A.J. van der Kooi MD PhD publications

foto

Publications MD PhD A.J. van der Kooi

Position
Medical Specialist
Main activities
Patient care, Research
Specialisation
Neuromuscular disorders, general neurology
Focus of research

The Department of Neurology performs clinical and translational research within three research themes: infection & inflammation, cerebrovascular disorders, and movement disorders. The themes are imbedded in the nine translational research programs of Amsterdam Neuroscience, the research institute of neuroscience investigators in the Amsterdam area. All staff members of the Department of Neurology are involved in research and collaborate within Neuroscience Amsterdam, with other academic and non-academic hospitals, and with international research groups.

Infection and inflammation. We perform clinical translational research in the field of neurological infections & inflammation. We perform prospective clinical cohort studies, randomized clinical trials, and experimental research, combining our clinical expertise with groundbreaking, translational approaches using clinical data, human samples, next generation sequencing, in vitro techniques, and mouse models in the era's of bacterial meningitis & encephalitis, infections after stroke, septic encephalopathy, and inflammatory diseases of peripheral nerves and muscles.

Neuromuscular disorders. Our neuromuscular centre is a NFU (Nederlandse federatie van universitaire medische centra) and ERN (European reference network) accredited center for neuromuscular diseases in general, and motor neuron disease (ALS), idiopathic inflammatory myopathy, poliomyelitis, hereditary neuropathies and inflammatory polyneuropathies in particular. Inflammatory diseases of peripheral nerves and muscles are the main focus of the neuromuscular research-line, within the research area neuro-infection and inflammation. The immune mediated neuropathies (e.g. GBS, CIDP, MMN) and idiopathic inflammatory myopathies (e.g. dermatomysositis, IBM) and critical illness neuropathy and myopathy are the specific diseases of interest. This research is patient-driven and translational. More specific, clinical trials, cohort studies and studies investigating immunological and genomic characterization of nerve and muscle inflammation are performed. From these studies we try to arrive at clinically relevant biomarkers of disease activity and predictors of response. For the critical illness neuromyopathies early predictors for disease and outcome are sought.
Improving the diagnostic and therapeutic options available to these patients are thus the starting point. The prevention of nerve and muscle damage and the improvement of the regenerative capacity are some of the key areas for the near future.

Since the completion of my Neurology training in 2000 I have been working as a neurologist, with a special interest in neuromuscular diseases and neuroimmunology. In daily practice, I see patients with all kinds of neuromuscular disease, such as motor neuron disease, myopathies and neuropathies. My specific area of interest is idiopathic inflammatory myopathies (myositis). Other areas of expertise include hereditary neuropathies and limb girdle muscular dystrophies, neurological manifestations of sarcoidosis and various inflammatory neuropathies (GBS, MMN, vasculitis).

Amsterdam UMC Research Institutes
AMC departments
All publications

2021

  • Kuitwaard K., Brusse E., Jacobs B. C., Vrancken A. F. J. E., Eftimov F., Notermans N. C., van der Kooi A. J., Fokkink W. -J. R., Nieboer D., Lingsma H. F., Merkies I. S. J., van Doorn P. A. Randomized trial of intravenous immunoglobulin maintenance treatment regimens in chronic inflammatory demyelinating polyradiculoneuropathy European journal of neurology 2021;28 (1):286-296 [PubMed]

2020

  • Lim Johan, Raaphorst Joost, van der Kooi Anneke J. Comment on “Systematic retrospective study on 64 patients anti-Mi2 dermatomyositis: A classic skin rash with a necrotizing myositis and high risk of malignancy” Journal of the American Academy of Dermatology 2020;83 (6):e459-e460 [PubMed]
  • Mantegazza Renato, O'Brien Fanny L., Yountz Marcus, Howard James F., Gabriel Mazia Claudio, Wilken Miguel, Barroso Fabio, Saba Juliet, Rugiero Marcelo, Bettini Mariela, Chaves Marcelo, Vidal Gonzalo, Dalila Garcia Alejandra, de Bleecker Jan, van den Abeele Guy, de Koning Kathy, de Mey Katrien, Mercelis Rudy, Mahieu D. lphine, Wagemaekers Linda, van Damme Philip, Depreitere Annelies, Schotte Caroline, Smetcoren Charlotte, Stevens Olivier, van Daele Sien, Vandenbussche Nicolas, Vanhee Annelies, Verjans Sarah, Vynckier Jan, D’Hont Ann, Tilkin Petra, Alves de Siqueira Carvalho Alzira, Dias Brockhausen Igor, Feder David, Ambrosio Daniel, César Pamela, Paula Melo Ana, Martins Ribeiro Renata, Rocha Rosana, Bezerra Rosa Bruno, Veiga Thabata, Augusto da Silva Luiz, Santos Engel Murilo, Gonçalves Geraldo Jordana, da Penha Ananias Morita Maria, Nogueira Coelho Erica, Paiva Gabriel, Pozo Marina, Prando Natalia, Torres Debora Dada Martineli, Fernanda Butinhao Cristiani, Duran Gustavo, Augusto Suriane Fialho Tomás, Gomes da Silva Tamires Cristina, Gonçalves Luiz Otavio Maia, Eduardo Pazetto Lucas, Renata Cubas Volpe Luciana, Souza Duca Luciana, Friedrich Maurício André Gheller, Guerreiro Alexandre, Mohr Henrique, Pereira Martins Maurer, da Cruz Pacheco Daiane, Ferreira Luciana, Paula Macagnan Ana, Pinto Graziela, de Cassia Santos Aline, Souza Bulle Oliveira Acary, Amaral de Andrade Ana Carolina, Annes Marcelo, Duarte Silva Liene, Cavalcante Lino Valeria, Pinto Wladimir, Assis Natália, Carrara Fernanda, Miranda Carolina, Souza Iandra, Fernandes Patrícia, Siddiqi Zaeem, Phan Cecile, Narayan Jeffrey, Blackmore Derrick, Mallon Ashley, Roderus Rikki, Watt Elizabeth, Vohanka Stanislav, Bednarik Josef, Chmelikova Magda, Cierny Marek, Toncrova Stanislava, Junkerova Jana, Kurkova Barbora, Reguliova Katarina, Zapletalova Olga, Pitha Jiri, Novakova Iveta, Tyblova Michaela, Jurajdova Ivana, Wolfova Marcela, Andersen Henning, Harbo Thomas, Vinge Lotte, Krogh Susanne, Mogensen Anita, Vissing John, Højgaard Joan, Witting Nanna, Mette Ostergaard Autzen Anne, Pedersen Jane, Erälinna Juha-Pekka, Laaksonen Mikko, Oksaranta Olli, Harrison Tuula, Eriksson Jaana, Rozsa Csilla, Horvath Melinda, Lovas Gabor, Matolcsi Judit, Szabo Gyorgyi, Jakab Gedeonne, Szabadosne Brigitta, Vecsei Laszlo, Dezsi Livia, Varga Edina, Konyane Monika, Antonini Giovanni, di Pasquale Antonella, Garibaldi Matteo, Morino Stefania, Troili Fernanda, Fionda Laura, Pasquale Antonella, Evoli Amelia, Emilio Alboini Paolo, D’Amato Valentina, Iorio Raffaele, Inghilleri Maurizio, Fionda Laura, Frasca Vittorio, Giacomelli Elena, Gori Maria, Lopergolo Diego, Onesti Emanuela, Frasca Vittorio, Gabriele Maria, Saccà Francesco, Filla Alessandro, Costabile Teresa, Marano Enrico, Fasanaro Angiola, Marsili Angela, Puorro Giorgia, Antozzi Carlo, Bonanno Silvia, Camera Giorgia, Locatelli Alberta, Maggi Lorenzo, Pasanisi Maria, Campanella Angela, Uzawa Akiyuki, Kanai Tetsuya, Kawaguchi Naoki, Mori Masahiro, Kaneko Yoko, Kanzaki Akiko, Kobayashi Eri, Murai Hiroyuki, Masaki Katsuhisa, Matsuse Dai, Matsushita Takuya, Uehara Taira, Shimpo Misa, Jingu Maki, Kikutake Keiko, Nakamura Yumiko, Sano Yoshiko, Utsugisawa Kimiaki, Nagane Yuriko, Kamegamori Ikuko, Tsuda Tomoko, Fujii Yuko, Futono Kazumi, Ozawa Yukiko, Mizugami Aya, Saito Yuka, Samukawa Makoto, Suzuki Hidekazu, Morikawa Miyuki, Kamakura Sachiko, Miyawaki Eriko, Okumura Meinoshin, Funaka Soichiro, Kawamura Tomohiro, Nakamori Masayuki, Takahashi Masanori, Taichi Namie, Hasuike Tomoya, Higuchi Eriko, Kobayashi Hisako, Osakada Kaori, Shiraishi Hirokazu, Miyazaki Teiichiro, Motomura Masakatsu, Mukaino Akihiro, Yoshimura Shunsuke, Asada Shizuka, Yoshida Seiko, Amamoto Shoko, Kobashikawa Tomomi, Koga Megumi, Maeda Yasuko, Takada Kazumi, Takada Mihoko, Tsurumaru Masako, Yamashita Yumi, Suzuki Yasushi, Akiyama Tetsuya, Narikawa Koichi, Tano Ohito, Tsukita Kenichi, Kurihara Rikako, Meguro Fumie, Fukuda Yusuke, Sato Miwako, Imai Tomihiro, Tsuda Emiko, Shimohama Shun, Hayashi Takashi, Hisahara Shin, Imai Tomihiro, Kawamata Jun, Murahara Takashi, Saitoh Masaki, Shimohama Shun, Suzuki Shuichiro, Yamamoto Daisuke, Ishiyama Yoko, Ishiyama Naoko, Noshiro Mayuko, Takeyama Rumi, Uwasa Kaori, Yasuda Ikuko, van der Kooi Anneke, de Visser Marianne, Gibson Tamar, Kim Byung-Jo, Nyoung Lee Chang, Seo Koo Yong, Youl Seok Hung, Nam Kang Hoo, Ra HyeJin, Joon Kim Byoung, Bin Cho Eun, Choi MiSong, Lee HyeLim, Min Ju-Hong, Seok Jinmyoung, Lee JiEun, Koh Da Yoon, Kwon JuYoung, Park SangAe, Haw Choi Eun, Hong Yoon-Ho, Ahn So-Hyun, Lim Koo Dae, Lim Jae-Sung, Won Shin Chae, Ye Hwang Ji, Kim Miri, Min Kim Seung, Jeong Ha-Neul, Jung JinWoo, Kim Yool-hee, Seok Lee Hyung, Young Shin Ha, Bi Hwang Eun, Shin Miju, Casasnovas Carlos, Antonia Alberti Aguilo Maria, Homedes-Pedret Christian, Julia Palacios Natalia, Diez Porras Laura, Velez Santamaria Valentina, Lazaro Ana, Gamez Carbonell Josep, Sune Pilar, Salvado Figueras Maria, Gili Gisela, Mazuela Gonzalo, Illa Isabel, Cortes Vicente Elena, Diaz-Manera Jordi, Antonio Querol Gutiérrez Luis, Rojas Garcia Ricardo, Vidal Nuria, Arribas-Ibar Elisabet, Diez Tejedor Exuperio, Gomez Salcedo Pilar, Fernandez-Fournier Mireya, Lopez Ruiz Pedro, Rodriguez de Rivera Francisco Javier, Fernandez-Fournier Mireya, Sastre Maria, Piehl Fredrik, Hietala Albert, Bjarbo Lena, Sengun Ihsan, Meherremova Arzu, Ozcelik Pinar, Balkan Bengu, Tuga Celal, Ugur Muzeyyen, Erdem-Ozdamar Sevim, Bekircan-Kurt Can Ebru, Pinar Acar Nazire, Yilmaz Ezgi, Caliskan Yagmur, Orsel Gulsah, Efendi Husnu, Aydinlik Seda, Cavus Hakan, Kutlu Ayse, Becerikli Gulsah, Semiz Cansu, Tun Ozlem, Terzi Murat, Dogan Baki, Kazim Onar Musa, Sen Sedat, Kirbas Cavdar Tugce, Veske Adife, Norwood Fiona, Dimitriou Aikaterini, Gollogly Jakit, Mahdi-Rogers Mohamed, Seddigh Arshira, Sokratous Giannis, Maier Gal, Sohail Faisal, Jacob Saiju, Sadalage Girija, Torane Pravin, Brown Claire, Shah Amna, Sathasivam Sivakumar, Arndt Heike, Davies Debbie, Watling Dave, Amato Anthony, Cochrane Thomas, Salajegheh Mohammed, Roe Kristen, Amato Katherine, Toska Shirli, Wolfe Gil, Silvestri Nicholas, Patrick Kara, Zakalik Karen, Katz Jonathan, Miller Robert, Engel Marguerite, Forshew Dallas, Bravver Elena, Brooks Benjamin, Sanjak Mohammed, Plevka Sarah, Burdette Maryanne, Cunningham Scott, Kramer Megan, Nemeth Joanne, Schommer Clara, Scott Tierney, Juel Vern, Guptill Jeffrey, Hobson-Webb Lisa, Massey Janice, Beck Kate, Carnes Donna, Loor John, Anderson Amanda, Pascuzzi Robert, Bodkin Cynthia, Kincaid John, Snook Riley, Guingrich Sandra, Micheels Angela, Chaudhry Vinay, Corse Andrea, Mosmiller Betsy, Kelley Andrea, Ho Doreen, Srinivasan Jayashri, Vytopil Michal, Jara Jordan, Ventura Nicholas, Carter Cynthia, Donahue Craig, Herbert Carol, Scala Stephanie, Weiner Elaine, Alam Sharmeen, McKinnon Jonathan, Haar Laura, McKinnon Naya, Alcon Karan, McKenna Kaitlyn, Sattar Nadia, Daniels Kevin, Jeffery Dennis, Freimer Miriam, Chad Hoyle Joseph, Kissel John, Agriesti Julie, Chelnick Sharon, Mezache Louisa, Pineda Colleen, Muharrem Filiz, Karam Chafic, Khoury Julie, Marburger Tessa, Kaur Harpreet, Dimitrova Diana, Gilchrist James, Agrawal Brajesh, Elsayed Mona, Kohlrus Stephanie, Ardoin Angela, Darnell Taylor, Golden Laura, Lokaitis Barbara, Seelbach Jenna, Muppidi Srikanth, Goyal Neelam, Sakamuri Sarada, So Yuen T., Paulose Shirley, Pol Sabrina, Welsh Lesly, Bhavaraju-Sanka Ratna, Tobon Gonzalez Alejandro, Dishman Lorraine, Jones Floyd, Gonzalez Anna, Padilla Patricia, Saklad Amy, Silva Marcela, Nations Sharon, Trivedi Jaya, Hopkins Steve, Kazamel Mohamed, Alsharabati Mohammad, Lu Liang, Nozaki Kenkichi, Mumfrey-Thomas Sandi, Woodall Amy, Mozaffar Tahseen, Cash Tiyonnoh, Goyal Namita, Roy Gulmohor, Mathew Veena, Maqsood Fatima, Minton Brian, James Jones H., Rosenfeld Jeffrey, Garcia Rebekah, Echevarria Laura, Garcia Sonia, Pulley Michael, Aranke Shachie, Ross Berger Alan, Shah Jaimin, Shabbir Yasmeen, Smith Lisa, Varghese Mary, Shabbir Yasmeen, Gutmann Laurie, Gutmann Ludwig, Jerath Nivedita, Nance Christopher, Swenson Andrea, Olalde Heena, Kressin Nicole, Sieren Jeri, Barohn Richard, Dimachkie Mazen, Glenn Melanie, McVey April, Pasnoor Mamatha, Statland Jeffery, Wang Yunxia, Liu Tina, Emmons Kelley, Jenci Nicole, Locheke Jerry, Fondaw Alex, Johns Kathryn, Rico Gabrielle, Walsh Maureen, Herbelin Laura, Hafer-Macko Charlene, Kwan Justin, Zilliox Lindsay, Callison Karen, Young Valerie, DiSanzo Beth, Naunton Kerry, Benatar Michael, Bilsker Martin, Sharma Khema, Cooley Anne, Reyes Eliana, Michon Sara-Claude, Sheldon Danielle, Steele Julie, Karam Chafic, Traub Rebecca, Chopra Manisha, Vu Tuan, Katzin Lara, McClain Terry, Harvey Brittany, Hart Adam, Huynh Kristin, Beydoun Said, Chilingaryan Amaiak, Doan Victor, Droker Brian, Gong Hui, Karimi Sanaz, Lin Frank, McClain Terry, Polaka Krishna, Shah Akshay, Tran Anh, Akhter Salma, Malekniazi Ali, Tandan Rup, Hehir Michael, Waheed Waqar, Lucy Shannon, Weiss Michael, Distad Jane, Strom Susan, Downing Sharon, Kim Bryan, Bertorini Tulio, Arnold Thomas, Henderson Kendrick, Pillai Rekha, Liu Ye, Wheeler Lauren, Hewlett Jasmine, Vanderhook Mollie, Nowak Richard, Dicapua Daniel, Keung Benison, Kumar Aditya, Patwa Huned, Robeson Kimberly, Yang Irene, Nye Joan, Vu Hong Consistent improvement with eculizumab across muscle groups in myasthenia gravis Annals of clinical and translational neurology 2020;7 (8):1327-1339 [PubMed]
  • ten Dam Leroy, de Visser Marianne, Ginjaar Hendrika B., van Duyvenvoorde Hermine A., van Koningsbruggen Silvana, van der Kooi Antje J. Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey Journal of neuromuscular diseases 2020
  • ten Dam Leroy Limb girdle muscular dystrophies 2020. 189p. ISBN 9789464161168. [UvA Dissertations Online] University of Amsterdam. (Supervisor: de Visser Marianne; Co-supervisor: van der Kooi Antje J.)
  • Vissing John, Jacob Saiju, Fujita Kenji P., O’Brien Fanny, Howard James F., Mazia Claudio Gabriel, Wilken Miguel, Barroso Fabio, Saba Juliet, Rugiero Marcelo, Bettini Mariela, Chaves Marcelo, Vidal Gonzalo, Garcia Alejandra Dalila, de Bleecker Jan, van den Abeele Guy, de Koning Kathy, de Mey Katrien, Mercelis Rudy, Mahieu D. lphine, Wagemaekers Linda, van Damme Philip, Depreitere Annelies, Schotte Caroline, Smetcoren Charlotte, Stevens Olivier, van Daele Sien, Vandenbussche Nicolas, Vanhee Annelies, Verjans Sarah, Vynckier Jan, D’Hont Ann, Tilkin Petra, Alves de Siqueira Carvalho Alzira, Dias Brockhausen Igor, Feder David, Ambrosio Daniel, César Pamela, Melo Ana Paula, Martins Ribeiro Renata, Rocha Rosana, Rosa Bruno Bezerra, Veiga Thabata, da Silva Luiz Augusto, Santos Engel Murilo, Gonçalves Geraldo Jordana, da Penha Ananias Morita Maria, van der Kooi Anneke, de Visser Marianne, Liu Ye ‘Minimal symptom expression’ in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab Journal of neurology 2020;267 (7):1991-2001 [PubMed]
  • Alonso-Pérez Jorge, González-Quereda Lidia, Bello Luca, Guglieri Michela, Straub Volker, Gallano Pia, Semplicini Claudio, Pegoraro Elena, Zangaro Vittoria, Nascimento Andrés, Ortez Carlos, Comi Giacomo Pietro, Dam Leroy Ten, de Visser Marianne, van der Kooi A. J., Garrido Cristina, Santos Manuela, Schara Ulrike, Gangfuß Andrea, Løkken Nicoline, Storgaard Jesper Helbo, Vissing John, Schoser Benedikt, Dekomien Gabriele, Udd Bjarne, Palmio Johanna, D'Amico Adele, Politano Luisa, Nigro Vincenzo, Bruno Claudio, Panicucci Chiara, Sarkozy Anna, Abdel-Mannan Omar, Alonso-Jimenez Alicia, Claeys Kristl G., Gomez-Andrés David, Munell Francina, Costa-Comellas Laura, Haberlová Jana, Rohlenová Marie, Elke De Vos, de Bleecker Jan L., Dominguez-González Cristina, Tasca Giorgio, Weiss Claudia, Deconinck Nicolas, Fernández-Torrón Roberto, López de Munain Adolfo, Camacho-Salas Ana, Melegh B. la, Hadzsiev Kinga, Leonardis Lea, Koritnik Blaz, Garibaldi Matteo, de Leon-Hernández Juan Carlos, Malfatti Edoardo, Fraga-Bau Arturo, Richard Isabelle, Illa Isabel, Díaz-Manera Jordi New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy Brain 2020;143 (9):2696-2708 [PubMed]
  • Verboon Christine, van den Berg Bianca, Cornblath David R, Venema Esmee, Gorson Kenneth C, Lunn Michael P, Lingsma Hester, Van den Bergh Peter, Harbo Thomas, Bateman Kathleen, Pereon Yann, Sindrup Søren H, Kusunoki Susumu, Miller James, Islam Zhahirul, Hartung Hans-Peter, Chavada Govindsinh, Jacobs Bart C, Hughes Richard A C, van Doorn Pieter A, Eftimov Filip, van der Kooi A. J. Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: The non-randomised ISID study Journal of neurology, neurosurgery, and psychiatry 2020;91 (2):113-121 [PubMed]
  • Beeldman Emma, Govaarts Rosanne, de Visser Marianne, Klein Twennaar Michelle, van der Kooi Anneke J., van den Berg Leonard H., Veldink Jan H., Pijnenburg Yolande A. L., de Haan Rob J., Schmand Ben A., Raaphorst Joost Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis Journal of neurology, neurosurgery, and psychiatry 2020;91 (7):779-780 [PubMed]
  • Villar-Quiles Rocio N., von der Hagen Maja, Métay Corinne, Gonzalez Victoria, Donkervoort Sandra, Bertini Enrico, Castiglioni Claudia, Chaigne Denys, Colomer Jaume, Cuadrado Maria Luz, de Visser Marianne, Desguerre Isabelle, Eymard Bruno, Goemans Nathalie, Kaindl Angela, Lagrue Emmanuelle, Lütschg J. rg, Malfatti Edoardo, Mayer Michèle, Merlini Luciano, Orlikowski David, Reuner Ulrike, Salih Mustafa A., Schlotter-Weigel Beate, Stoetter Mechthild, Straub Volker, Topaloglu Haluk, Urtizberea J. Andoni, van der Kooi Anneke, Wilichowski Ekkehard, Romero Norma B., Fardeau Michel, Bönnemann Carsten G., Estournet Brigitte, Richard Pascale, Quijano-Roy Susana, Schara Ulrike, Ferreiro Ana The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series Neurology 2020;95 (11):e1512-e1527 [PubMed]

2019

  • ten Dam Leroy, Frankhuizen Wendy S., Linssen Wim H. J. P., Straathof Chiara S., Niks Erik H., Faber Karin, Fock Annemarie, Kuks Jan B., Brusse Esther, de Coo René, Voermans Nicol, Verrips Aad, Hoogendijk Jessica E., van der Pol Ludo, Westra Dineke, de Visser Marianne, van der Kooi Anneke J., Ginjaar Ieke Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients Clinical genetics 2019;96 (2):126-133 [PubMed]
  • ten Dam Leroy, de Visser Marianne, van der Kooi Antje J. Beeldvorming bij spierziekten IMAGO 2019;5
  • Lucke Ilse M., Wieske Luuk, van der Kooi Anneke J., van Schaik Ivo N., Eftimov Filip, Verhamme Camiel Diagnosis and treatment response in the asymmetric variant of chronic inflammatory demyelinating polyneuropathy Journal of the peripheral nervous system 2019;24 (2):174-179 [PubMed]
  • Lim J., Eftimov F., Raaphorst J., Aronica E., van der Kooi A. J. Diagnostic value of additional histopathological fascia examination in idiopathic inflammatory myopathies European journal of neurology 2019;26 (12):1494-1496 [PubMed]
  • Platteel Anouk C. M., Wevers Brigitte A., Lim Johan, Bakker Jaap A., Bontkes Hetty J., Curvers Joyce, Damoiseaux Jan, Heron Michiel, de Kort Gijs, Limper Maarten, van Lochem Ellen G., Mulder A. H. Leontine, Saris Christiaan G. J., van der Valk Hester, van der Kooi Anneke J., van Leeuwen Ester M. M., Veltkamp Marcel, Schreurs Marco W. J., Meek Bob, Hamann D. rte Frequencies and clinical associations of myositis-related antibodies in The Netherlands: A one-year survey of all Dutch patients Journal of Translational Autoimmunity 2019;2 [PubMed]
  • Wienke Judith, Bellutti Enders Felicitas, Lim Johan, Mertens Jorre S, van den Hoogen Luuk L, Wijngaarde Camiel A, Yeo Joo Guan, Meyer Alain, Otten Henny G, Fritsch-Stork Ruth D E, Kamphuis Sylvia S M, Hoppenreijs Esther P A H, Armbrust Wineke, van den Berg J Merlijn, Hissink Muller Petra C E, Tekstra Janneke, Hoogendijk Jessica E, Deakin Claire T, de Jager Wilco, van Roon Joël A G, van der Pol W Ludo, Nistala Kiran, Pilkington Clarissa, de Visser Marianne, Arkachaisri Thaschawee, Radstake Timothy R D J, van der Kooi Anneke J, Nierkens Stefan, Wedderburn Lucy R, van Royen-Kerkhof Annet, van Wijk Femke Galectin-9 and CXCL10 as Biomarkers for Disease Activity in Juvenile Dermatomyositis: A Longitudinal Cohort Study and Multicohort Validation Arthritis & rheumatology (Hoboken, N.J.) 2019;71 (8):1377-1390 [PubMed]
  • Bunschoten Carina, Eftimov Filip, van der Pol W. -Ludo, Jacobs Bart C., van Doorn P. A., Brusse E., Drenthen J., Arends S., Broers M. C., van Schaik I. N., van der Kooi A. J., Verhamme C., Adrichem M. E., van Lieverloo G. G. A., Lucke I. M., Bus S. R. M., van den Berg L. H., Notermans N. C., Vrancken A. F. J. E., Goedee H. S., Franssen H. International chronic inflammatory demyelinating polyneuropathy outcome study (ICOS): Protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome Journal of the peripheral nervous system 2019;24 (1):34-38 [PubMed]
  • Lucke Ilse M., Adrichem Max E., Wieske Luuk, van der Kooi Anneke J., Verhamme Camiel, van Schaik Ivo N., Eftimov Filip Intravenous immunoglobulins in patients with clinically suspected chronic immune-mediated neuropathy Journal of the neurological sciences 2019;397:141-145 [PubMed]
  • Westra Dineke, Schouten Meyke I., Stunnenberg Bas C., Kusters Benno, Saris Christiaan G. J., Erasmus Corrie E., van Engelen Baziel G., Bulk Saskia, Verschuuren-Bemelmans Corien C., Gerkes E. H., de Geus Christa, van der Zwaag P. A., Chan Sophelia, Chung Brian, Barge-Schaapveld Daniela Q. C. M., Kriek Marjolein, Sznajer Yves, van Spaendonck-Zwarts Karin, van der Kooi Anneke J., Krause Amanda, Schönewolf-Greulich Bitten, de Die-Smulders Christine, Sallevelt Suzanne C. E. H., Krapels Ingrid P. C., Rasmussen Magnhild, Maystadt Isabelle, Kievit Anneke J. A., Witting Nanna, Pennings Maartje, Meijer Rowdy, Gillissen Christian, Kamsteeg Erik-Jan, Voermans Nicol C. Panel-based exome sequencing for neuromuscular disorders as a diagnostic service Journal of neuromuscular diseases 2019;6 (2):241-258 [PubMed]
  • Naumann Marcel, Peikert Kevin, Günther Rene, van der Kooi Anneke J., Aronica Eleonora, Hübers Annemarie, Danel Veronique, Corcia Philippe, Pan-Montojo Francisco, Cirak Sebahattin, Haliloglu G. knur, Ludolph Albert C., Goswami Anand, Andersen Peter M., Prudlo Johannes, Wegner Florian, van Damme Philip, Weishaupt Jochen H., Hermann Andreas Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis Annals of clinical and translational neurology 2019;6 (12):2384-2394 [PubMed]
  • Lim Johan, ten Dam Leroy, Baars Paul A., van der Kooi Anneke J. Recurrent focal myositis developing into a generalised idiopathic inflammatory myopathy with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies BMJ case reports 2019;12 (11) [PubMed]
  • Lim J., Eftimov F., Raaphorst J., Aronica E., van der Kooi A. J. Response to: Diagnostic value of additional histopathological fascia examination in idiopathic inflammatory myopathies European journal of neurology 2019;26:e95 [PubMed]
  • Lim Johan, Rietveld Anke, de Bleecker Jan L., Badrising Umesh A., Saris Christiaan G. J., van der Kooi Anneke J., de Visser Marianne Seronegative patients form a distinctive subgroup of immune-mediated necrotizing myopathy Neurology® neuroimmunology & neuroinflammation 2019;6 (1):e513 [PubMed]

2018

  • ten Dam Leroy, de Visser Marianne, van der Kooi Antje J. Beeldvorming bij spierziekten Nervus 2018;3
  • Visser Anne E, Rooney James P K, D'Ovidio Fabrizio, Westeneng Henk-Jan, Vermeulen Roel C H, Beghi Ettore, Chiò Adriano, Logroscino Giancarlo, Hardiman Orla, Veldink Jan H, van den Berg Leonard H, van der Kooi Anneke J. Multicentre, cross-cultural, population-based, case-control study of physical activity as risk factor for amyotrophic lateral sclerosis Journal of neurology, neurosurgery, and psychiatry 2018;89 (8):797-803 [PubMed]
  • Lim J., van Royen-Kerkhof A., Jonkers R. E., Starink M. V., Voskuyl A. E., van der Kooi A. J. Myositis is meer dan een spierziekte Nederlands tijdschrift voor geneeskunde 2018;162:D2312 [PubMed]
  • Kuitwaard K., Fokkink W. J. R., Brusse E., Vrancken A. F. J. E., Eftimov F., Notermans N. C., van der Kooi A. J., Merkies I. S. J., Jacobs B. C., van Doorn P. A. Protocol of a dose response trial of IV immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy (DRIP study) Journal of the peripheral nervous system 2018;23 (1):5-10 [PubMed]

2017

  • de Vries Bálint S., Rustemeijer Laura M. M., van der Kooi Anneke J., Raaphorst Joost, Schröder Carin D., Nijboer Tanja C. W., Hendrikse Jeroen, Veldink Jan H., van den Berg Leonard H., van Es Michael A. A case series of PLS patients with frontotemporal dementia and overview of the literature Amyotrophic lateral sclerosis and frontotemporal degeneration 2017;18 (7-8):534-548 [PubMed]
  • Visser Anne E., Seelen Meinie, Hulsbergen Alexander, de Graaf Joris, van der Kooi Anneke J., Raaphorst Joost, Veldink Jan H., van den Berg Leonard H. Exploring the fitness hypothesis in ALS: a population-based case-control study of parental cause of death and lifespan Journal of neurology, neurosurgery, and psychiatry 2017;88 (7):550-556 [PubMed]
  • McLaughlin Russell L., Schijven Dick, van Rheenen Wouter, van Eijk Kristel R., O'Brien Margaret, Kahn René S., Ophoff Roel A., Goris An, Bradley Daniel G., Al-Chalabi Ammar, van den Berg Leonard H., Luykx Jurjen J., Hardiman Orla, Veldink Jan H., Shatunov Aleksey, Dekker Annelot M., Diekstra Frank P., Pulit Sara L., van der Spek Rick A. A., van Doormaal Perry T. C., Sproviero William, Jones Ashley R., Nicholson Garth A., Rowe Dominic B., Pamphlett Roger, Kiernan Matthew C., Bauer Denis, Kahlke Tim, Williams Kelly, Eftimov Filip, Fogh Isabella, Ticozzi Nicola, Lin Kuang, Millecamps Stéphanie, Salachas François, Meininger Vincent, de Carvalho Mamede, Pinto Susana, Mora Jesus S., Rojas-García Ricardo, Polak Meraida, Chandran Siddharthan, Colville Shuna, Swingler Robert, Morrison Karen E., Shaw Pamela J., Hardy John, van der Kooi Anneke J., Weber Markus, de Haan Lieuwe Genetic correlation between amyotrophic lateral sclerosis and schizophrenia Nature communications 2017;8:14774 [PubMed]
  • Al-Chalabi Ammar, Andersen Peter M., Chandran Siddharthan, Chio Adriano, Corcia Philippe, Couratier Philippe, Danielsson Olof, de Carvalho Mamede, Desnuelle Claude, Grehl Torsten, Grosskreutz Julian, Holmøy Trygve, Ingre Caroline, Karlsborg Merete, Kleveland Grethe, Koch Jan Christoph, Koritnik Blaz, KuzmaKozakiewicz Magdalena, Laaksovirta Hannu, Ludolph Albert, McDermott Christopher, Meyer Thomas, Mitre Ropero Bernardo, Mora Pardina Jesus, Nygren Ingela, Petri Susanne, Povedano Panades Mónica, Salachas Francois, Shaw Pamela, Silani Vincenzo, Staaf Gert, Svenstrup Kirsten, Talbot Kevin, Tysnes Ole-Bjørn, van Damme Philip, van der Kooi Anneke, Weber Markus, Weydt Patrick, Wolf Joachim, Hardiman Orla, van den Berg Leonard H. July 2017 ENCALS statement on edaravone Amyotrophic lateral sclerosis and frontotemporal degeneration 2017;18 (7-8):471-474 [PubMed]
  • Kuitwaard Krista, Fokkink Willem-Jan R., Brusse Esther, Vrancken Alexander F. J. E., Eftimov Filip, Notermans Nicolette C., van der Kooi Anneke J., Merkies Ingemar S. J., Jacobs Bart C., van Doorn Pieter A. Maintenance IV immunoglobulin treatment in chronic inflammatory demyelinating polyradiculoneuropathy Journal of the peripheral nervous system 2017;22 (4):425-432 [PubMed]
  • Visser Anne E., Pazoki Raha, Pulit Sara L., van Rheenen Wouter, Raaphorst Joost, van der Kooi Anneke J., Ricaño-Ponce Isis, Wijmenga Cisca, Otten Henny G., Veldink Jan H., van den Berg Leonard H. No association between gluten sensitivity and amyotrophic lateral sclerosis Journal of neurology 2017;264 (4):694-700 [PubMed]
  • Howard James F., Utsugisawa Kimiaki, Benatar Michael, Murai Hiroyuki, Barohn Richard J., Illa Isabel, Jacob Saiju, Vissing John, Burns Ted M., Kissel John T., Muppidi Srikanth, Nowak Richard J., O'Brien Fanny, Wang Jing-Jing, Mantegazza Renato, Mazia Claudio Gabriel, Wilken Miguel, Ortea Carolina, Saba Juliet, Rugiero Marcelo, Bettini Mariela, Vidal Gonzalo, Garcia Alejandra Dalila, Lamont Phillipa, Leong Wai-Kuen, Boterhoven Heidi, Fyfe Beverly, Roberts Leslie, Jasinarachchi Mahi, Willlems Natasha, Wanschitz Julia, Löscher Wolfgang, de Bleecker Jan, van den Abeele Guy, de Koning Kathy, de Mey Katrien, Mercelis Rudy, Wagemaekers Linda, Mahieu Delphine, van Damme Philip, Smetcoren Charlotte, Stevens Olivier, Verjans Sarah, D'Hondt Ann, Tilkin Petra, Alves de Siqueira Carvalho Alzira, Hasan Rosa, Dias Brockhausen Igor, Feder David, van der Kooi Anneke Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study Lancet neurology 2017;16 (12):976-986 [PubMed]

2016

  • Draak T. H. P., Gorson K. C., Vanhoutte E. K., van Nes S. I., van Doorn P. A., Cornblath D. R., van den Berg L. H., Faber C. G., Merkies I. S. J., Barreira A. A., Bennett D., van den Bergh P. Y. K., Bombelli F., Bril V., Campanella A., Cats E. A., Costa R., Devigili G., Franques J., Gallia F., Hadden R. D., Hahn A. F., Hughes R. A. C., Illa I., Katzberg H., van der Kooi A. J., Lauria G., Léger J.-M., Lewis R. A., Lunn M. P. T., Nobile-Orazio E., Notermans N. C., Padua L., Ludo van der Pol W., Pouget J., Querol L., Raaphorst J., Reilly M. M., van Schaik I. N., de Visser M. Correlation of the patient's reported outcome Inflammatory-RODS with an objective metric in immune-mediated neuropathies European journal of neurology 2016;23 (7):1248-1253 [PubMed]
  • Straathof Chiara S. M., van Heusden Dave, Ippel Pieternella F., Post Jan G., Voermans Nicol C., de Visser Marianne, Brusse Esther, van den Bergen Janneke C., van der Kooi Anneke J., Verschuuren Jan J. G. M., Ginjaar Hendrika B. Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples Muscle & nerve 2016;53 (1):44-48 [PubMed]
  • Draak Thomas H. P., Gorson Kenneth C., Vanhoutte Els K., van Nes Sonja I., van Doorn Pieter A., Cornblath David R., van den Berg Leonard H., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Bombelli F., Bril V., Campanella A., Cats E. A., Cornblath D. R., Costa R., de Visser M., Devigili G., van Doorn P. A., Faber C. G., Franques J., Gallia F., Gorson K. C., Hadden R. D., Hahn A. F., Hughes R. A. C., Illa I., Katzberg H., Lauria G., Léger J.-M., Lewis R. A., Lunn M. P. T., Merkies I. S. J., Nobile-Orazio E., Notermans N. C., Padua L., Pouget J., Querol L., Raaphorst J., Reilly M. M., van den Berg L. H., van den Bergh P. Y. K., van der Kooi A. J., van der Pol W. L., van Nes S. I., van Schaik I. N. Does ability to walk reflect general functionality in inflammatory neuropathies? Journal of the peripheral nervous system 2016;21 (2):74-81 [PubMed]
  • van Rheenen Wouter, Shatunov Aleksey, Dekker Annelot M., McLaughlin Russell L., Diekstra Frank P., Pulit Sara L., van der Spek Rick A. A., Võsa Urmo, de Jong Simone, Robinson Matthew R., Yang Jian, Fogh Isabella, van Doormaal Perry Tc, Tazelaar Gijs H. P., Koppers Max, Blokhuis Anna M., Sproviero William, Jones Ashley R., Kenna Kevin P., van Eijk Kristel R., Harschnitz Oliver, Schellevis Raymond D., Brands William J., Medic Jelena, Menelaou Androniki, Vajda Alice, Ticozzi Nicola, Lin Kuang, Rogelj Boris, Vrabec Katarina, Ravnik-Glavač Metka, Koritnik Blaž, Zidar Janez, Leonardis Lea, Grošelj Leja Dolenc, Millecamps Stéphanie, Salachas François, Meininger Vincent, de Carvalho Mamede, Pinto Susana, Mora Jesus S., Rojas-García Ricardo, Polak Meraida, Chandran Siddharthan, Colville Shuna, Swingler Robert, Morrison Karen E., Shaw Pamela J., Hardy John, Orrell Richard W., Pittman Alan, Sidle Katie, Fratta Pietro, Malaspina Andrea, Topp Simon, Petri Susanne, Abdulla Susanne, Drepper Carsten, Sendtner Michael, Meyer Thomas, Ophoff Roel A., Staats Kim A., Wiedau-Pazos Martina, Lomen-Hoerth Catherine, van Deerlin Vivianna M., Trojanowski John Q., Elman Lauren, McCluskey Leo, Basak A. Nazli, Tunca Ceren, Hamzeiy Hamid, Parman Yesim, Meitinger Thomas, Lichtner Peter, Radivojkov-Blagojevic Milena, Andres Christian R., Maurel Cindy, Bensimon Gilbert, Landwehrmeyer Bernhard, Brice Alexis, Payan Christine A. M., Saker-Delye Safaa, Dürr Alexandra, Wood Nicholas W., Tittmann Lukas, Lieb Wolfgang, Franke Andre, Rietschel Marcella, Cichon Sven, Nöthen Markus M., Amouyel Philippe, Tzourio Christophe, Dartigues Jean-François, Uitterlinden Andre G., Rivadeneira Fernando, Estrada Karol, Hofman Albert, Curtis Charles, Blauw Hylke M., van der Kooi Anneke J., de Visser Marianne, Goris An, Weber Markus, Shaw Christopher E., Smith Bradley N., Pansarasa Orietta, Cereda Cristina, del Bo Roberto, Comi Giacomo P., D'alfonso Sandra, Bertolin Cinzia, Sorarù Gianni, Mazzini Letizia, Pensato Viviana, Gellera Cinzia, Tiloca Cinzia, Ratti Antonia, Calvo Andrea, Moglia Cristina, Brunetti Maura, Arcuti Simona, Capozzo Rosa, Zecca Chiara, Lunetta Christian, Penco Silvana, Riva Nilo, Padovani Alessandro, Filosto Massimiliano, Muller Bernard, Stuit Robbert Jan, Blair Ian, Zhang Katharine, McCann Emily P., Fifita Jennifer A., Nicholson Garth A., Rowe Dominic B., Pamphlett Roger, Kiernan Matthew C., Grosskreutz Julian, Witte Otto W., Ringer Thomas, Prell Tino, Stubendorff Beatrice, Kurth Ingo, Hübner Christian A., Leigh P. Nigel, Casale Federico, Chio Adriano, Beghi Ettore, Pupillo Elisabetta, Tortelli Rosanna, Logroscino Giancarlo, Powell John, Ludolph Albert C., Weishaupt Jochen H., Robberecht Wim, van Damme Philip, Franke Lude, Pers Tune H., Brown Robert H., Glass Jonathan D., Landers John E., Hardiman Orla, Andersen Peter M., Corcia Philippe, Vourc'h Patrick, Silani Vincenzo, Wray Naomi R., Visscher Peter M., de Bakker Paul I. W., van Es Michael A., Pasterkamp R. Jeroen, Lewis Cathryn M., Breen Gerome, Al-Chalabi Ammar, van den Berg Leonard H., Veldink Jan H. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis Nature genetics 2016;48 (9):1043-1048 [PubMed]
  • van der Tol Linda, Verhamme Camiel, van Schaik Ivo N., van der Kooi Anneke J., Hollak Carla E. M., Biegstraaten Marieke In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease JIMD reports 2016;28:95-103 [PubMed]
  • Dekker Annelot M., Seelen Meinie, van Doormaal Perry T. C., van Rheenen Wouter, Bothof Reinoud J. P., van Riessen Tim, Brands William J., van der Kooi Anneke J., de Visser Marianne, Voermans Nicol C., Pasterkamp R. Jeroen, Veldink Jan H., van den Berg Leonard H., van Es Michael A. Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers Neurobiology of aging 2016;39:220.e9-220.15 [PubMed]
  • ten Dam L., van der Kooi A. J., Verhamme C., Wattjes M. P., de Visser M. Muscle imaging in inherited and acquired muscle diseases European journal of neurology 2016;23 (4):688-703 [PubMed]
  • Kenna Kevin P., van Doormaal Perry T. C., Dekker Annelot M., Ticozzi Nicola, Kenna Brendan J., Diekstra Frank P., van Rheenen Wouter, van Eijk Kristel R., Jones Ashley R., Keagle Pamela, Shatunov Aleksey, Sproviero William, Smith Bradley N., van Es Michael A., Topp Simon D., Kenna Aoife, Miller Jack W., Fallini Claudia, Tiloca Cinzia, McLaughlin Russell L., Vance Caroline, Troakes Claire, Colombrita Claudia, Mora Gabriele, Calvo Andrea, Verde Federico, Al-Sarraj Safa, King Andrew, Calini Daniela, de Belleroche Jacqueline, Baas Frank, van der Kooi Anneke J., de Visser Marianne, ten Asbroek Anneloor L. M. A., Sapp Peter C., McKenna-Yasek Diane, Polak Meraida, Asress Seneshaw, Muñoz-Blanco José Luis, Strom Tim M., Meitinger Thomas, Morrison Karen E., Lauria Giuseppe, Williams Kelly L., Leigh P. Nigel, Nicholson Garth A., Blair Ian P., Leblond Claire S., Dion Patrick A., Rouleau Guy A. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis Nature genetics 2016;48 (9):1037-1042 [PubMed]
  • Leonhard Sonja E., Fritz Daan, Eftimov Filip, van der Kooi Anneke J., van de Beek Diederik, Brouwer Matthijs C. Neurosarcoidosis in a Tertiary Referral Center: A Cross-Sectional Cohort Study Medicine 2016;95 (14):e3277 [PubMed]
  • van Dijk Stefan, van der Kooi Anneke J., Aronica Eleonora, van Gulik Thomas M., Busch Olivier R., Besselink Marc G. Paraneoplastic Necrotizing Autoimmune Myopathy in a Patient Undergoing Laparoscopic Pancreatoduodenectomy for Distal Cholangiocarcinoma Case reports in gastroenterology 2016;10 (3):525-530 [PubMed]
  • Deenen Johanna C. W., van Doorn Pieter A., Faber Catharina G., van der Kooi Anneke J., Kuks Jan B. M., Notermans Nicolette C., Visser Leo H., Horlings Corinne G. C., Verschuuren Jan J. G. M., Verbeek André L. M., van Engelen Baziel G. M. The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands Neuromuscular disorders 2016;26 (7):447-452 [PubMed]
  • Govaarts Rosanne, Beeldman Emma, Kampelmacher Mike J., van Tol Marie-Jose, van den Berg Leonard H., van der Kooi Anneke J., Wijkstra Peter J., Zijnen-Suyker Marianne, Cobben Nicolle A. M., Schmand Ben A., de Haan Rob J., de Visser Marianne, Raaphorst Joost The frontotemporal syndrome of ALS is associated with poor survival Journal of neurology 2016;263 (12):2476-2483 [PubMed]

2015

  • Nieuwenhuis Marieke B. B., van der Salm Sandra M. A., Verhoeff Joost J. C., van der Kooi Anneke J., Slavujecvic-Letic Ivana, Pals Steven T., Vos Josephine M. I. A 43-Year-Old Female with Multifocal Cerebral Lesions. Histiocytic Sarcoma Brain pathology (Zurich, Switzerland) 2015;25 (3):371-372 [PubMed]
  • Beeldman Emma, van der Kooi Anneke J., de Visser Marianne, van Maarle Merel C., van Ruissen Fred, Baas Frank A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations Amyotrophic lateral sclerosis and frontotemporal degeneration 2015;16 (5-6):410-411 [PubMed]
  • Verschuur Constant Valentijn Michiel, van der Kooi Anneke Jeltje, Troost Dirk Anti-aquaporin 4 related paraneoplastic neuromyelitis optica in the presence of adenocarcinoma of the lung Clinical neuropathology 2015;34 (4):232-236 [PubMed]
  • Draak Thomas H. P., Vanhoutte Els K., van Nes Sonja I., Gorson Kenneth C., van der Pol W.-Ludo, Notermans Nicolette C., Nobile-Orazio Eduardo, Lewis Richard A., Léger Jean-Marc, van den Bergh Peter Y. K., Lauria Giuseppe, Bril Vera, Katzberg Hans, Lunn Michael P. T., Pouget Jean, van der Kooi Anneke J., Hahn Angelika F., van den Berg Leonard H., van Doorn Pieter A., Cornblath David R., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F., Lauria G. Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses Journal of the peripheral nervous system 2015;20 (3):277-288 [PubMed]
  • Huisman Mark H. B., Seelen Meinie, van Doormaal Perry T. C., de Jong Sonja W., de Vries Jeanne H. M., van der Kooi Anneke J., de Visser Marianne, Schelhaas H. Jurgen, van den Berg Leonard H., Veldink Jan H. Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis JAMA Neurology 2015;72 (10):1155-1162 [PubMed]
  • Draak Thomas H. P., Pruppers Mariëlle H. J., van Nes Sonja I., Vanhoutte Els K., Bakkers Mayienne, Gorson Kenneth C., van der Pol W.-Ludo, Lewis Richard A., Notermans Nicolette C., Nobile-Orazio Eduardo, Léger Jean-Marc, van den Bergh Peter Y. K., Lauria Giuseppe, Bril Vera, Katzberg Hans, Lunn Michael P. T., Pouget Jean, van der Kooi Anneke J., van den Berg Leonard H., van Doorn Pieter A., Cornblath David R., Hahn Angelika F., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G. Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar Journal of the peripheral nervous system 2015;20 (3):269-276 [PubMed]
  • Vanhoutte Els K., Draak Thomas H. P., Gorson Kenneth C., van Nes Sonja I., Hoeijmakers Janneke G. J., van der Pol W.-Ludo, Notermans Nicolette C., Lewis Richard A., Nobile-Orazio Eduardo, Léger Jean-Marc, van den Bergh Peter Y. K., Lauria Giuseppe, Bril Vera, Katzberg Hans, Lunn Michael P. T., Pouget Jean, van der Kooi Anneke J., Hahn Angelika F., van Doorn Pieter A., Cornblath David R., van den Berg Leonard H., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F. Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison Journal of the peripheral nervous system 2015;20 (3):289-295 [PubMed]
  • Wieske Luuk, van der Kooi Anneke J., Witteveen Esther, Bouwes Aline, Schultz Marcus J., van Schaik Ivo N., Horn Janneke Intraepidermal nerve fiber density in intensive care unit-acquired weakness-an observational pilot study Journal of critical care 2015;30 (4):819-821
  • Pruppers Mariëlle H. J., Draak Thomas H. P., Vanhoutte Els K., van der Pol W.-Ludo, Gorson Kenneth C., Léger Jean-Marc, Nobile-Orazio Eduardo, Lewis Richard A., van den Berg Leonard H., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., van der Kooi A. J., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F., Lauria G., Nobile-Orazio E., Padua L., Cornblath D. R., Gorson K. C., Lewis R. A., Illa I., Querol L., van Nes S. I. Outcome measures in MMN revisited: further improvement needed Journal of the peripheral nervous system 2015;20 (3):306-318 [PubMed]
  • Raaphorst J., van Tol M. J., de Visser M., van der Kooi A. J., Majoie C. B., van den Berg L. H., Schmand B., Veltman D. J. Prose memory impairment in amyotrophic lateral sclerosis patients is related to hippocampus volume European journal of neurology 2015;22 (3):547-554 [PubMed]
  • Vanhoutte Els K., Faber Catharina G., van Nes Sonja I., Cats Elisabeth A., van der Pol W.-Ludo, Gorson Kenneth C., van Doorn Pieter A., Cornblath David R., van den Berg Leonard H., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., van der Kooi A. J., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F., Lauria G., Nobile-Orazio E., Padua L., Cornblath D. R., Gorson K. C., Lewis R. A., Illa I., Querol L., van Nes S. I. Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS(C)) Journal of the peripheral nervous system 2015;20 (3):296-305 [PubMed]
  • Vanhoutte Els K., Hermans Mieke C. E., Faber Catharina G., Gorson Kenneth C., Merkies Ingemar S. J., Thonnard Jean-L., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., van der Kooi A. J., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F., Lauria G., Nobile-Orazio E., Padua L., Cornblath D. R., Gorson K. C., Lewis R. A., Illa I., Querol L., van Nes S. I. Rasch-ionale for neurologists Journal of the peripheral nervous system 2015;20 (3):260-268 [PubMed]
  • Jaeger Bregje, de Visser Marianne, Aronica Eleonora, van der Kooi Anneke J. Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies Neuromuscular disorders 2015;25 (6):457-460 [PubMed]
  • ten Dam Leroy, Brusse Esther, van der Kooi Antje J. Richtlijn diagnostiek bij limb-girdle spierzwakte Tijdschrift voor neurologie en neurochirurgie 2015;116:96

2014

  • Brehm Merel-Anne, Kempen Jiska C. E., van der Kooi Anneke J., de Groot Imelda J. M., van den Bergen Janneke C., Verschuuren Jan J. G. M., Niks Erik H., Harlaar Jaap Age-related longitudinal changes in metabolic energy expenditure during walking in boys with Duchenne muscular dystrophy PLoS ONE 2014;9 (12):e115200 [PubMed]
  • Schade van Westrum Steven M., Dekker Lukas R. C., de Voogt Willem G., Wilde Arthur A. M., Ginjaar Ieke B., de Visser Marianne, van der Kooi Anneke J. Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study Muscle & nerve 2014;50 (6):909-913 [PubMed]
  • Draak Thomas H. P., Vanhoutte Els K., van Nes Sonja I., Gorson Kenneth C., van der Pol W. Ludo, Notermans Nicolette C., Nobile-Orazio Eduardo, Léger Jean-Marc, van den Bergh Peter Y. K., Lauria Giuseppe, Bril Vera, Katzberg Hans, Lunn Michael P. T., Pouget Jean, van der Kooi Anneke J., Hahn Angelika F., Doorn Pieter A. van, Cornblath David R., van den Berg Leonard H., Faber Catharina G., Merkies Ingemar S. J. Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness Neurology 2014;83 (23):2124-2132 [PubMed]
  • van den Bergen J. C., Schade van Westrum S. M., Dekker L., van der Kooi A. J., de Visser M., Wokke B. H. A., Straathof C. S., Hulsker M. A., Aartsma-Rus A., Verschuuren J. J., Ginjaar H. B. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy Journal of neurology, neurosurgery, and psychiatry 2014;85 (1):92-98 [PubMed]
  • ten Dam Leroy, van der Kooi Anneke J., Rövekamp Fleur, Linssen Wim H. J. P., de Visser Marianne Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies Neuromuscular disorders 2014;24 (12):1097-1102 [PubMed]
  • van der Kooi A. J., de Visser M. Idiopathic inflammatory myopathies Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn 2014;119:495-512 [PubMed]
  • Seelen Meinie, Visser Anne E., Overste Daniel J., Kim Hong J., Palud A., Wong Tsz H., van Swieten John C., Scheltens Philip, Voermans Nicol C., Baas Frank, de Jong J. M. B. V., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., Taylor J. Paul, van Es Michael A., van den Berg Leonard H. No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy Neurobiology of aging 2014;35 (8):1956.e9-1956.e11 [PubMed]
  • van Paassen Barbara W., van der Kooi Anneke J., van Spaendonck-Zwarts Karin Y., Verhamme Camiel, Baas Frank, de Visser Marianne PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies Orphanet journal of rare diseases 2014;9 (1):38 [PubMed]
  • Raaphorst Joost, van Tol Marie-José, Groot Paul F. C., Altena Ellemarije, van der Werf Ysbrand D., Majoie Charles B., van der Kooi Anneke J., van den Berg Leonard H., Schmand Ben, de Visser Marianne, Veltman Dick J. Prefrontal involvement related to cognitive impairment in progressive muscular atrophy Neurology 2014;83 (9):818-825 [PubMed]
  • Seelen Meinie, van Doormaal Perry T. C., Visser Anne E., Huisman Mark H. B., Roozekrans Margot H. J., de Jong Sonja W., van der Kooi Anneke J., de Visser Marianne, Voermans Nicol C., Veldink Jan H., van den Berg Leonard H. Prior medical conditions and the risk of amyotrophic lateral sclerosis Journal of neurology 2014;261 (10):1949-1956 [PubMed]
  • Kempen J. C. E., Harlaar J., van der Kooi A. J., de Groot I. J. M., van den Bergen J. C., Niks E. H., Verschuuren J. J. G. M., Brehm M. A. Reliability of the walking energy cost test and the six-minute walk test in boys with Duchenne muscular dystrophy Neuromuscular disorders 2014;24 (3):216-221 [PubMed]
  • Seelen Meinie, Vermeulen Roel C. H., van Dillen Levien S., van der Kooi Anneke J., Huss Anke, de Visser Marianne, van den Berg Leonard H., Veldink Jan H. Residential exposure to extremely low frequency electromagnetic fields and the risk of ALS Neurology 2014;83 (19):1767-1769 [PubMed]
  • Zutt R., van der Kooi A. J., Linthorst G. E., Wanders R. J. A., de Visser M. Rhabdomyolysis: review of the literature Neuromuscular disorders 2014;24 (8):651-659 [PubMed]

2013

  • Vanhoutte Els K., Faber Catharina G., Merkies Ingemar S. J., van den Bergh P., Bril V., van Doorn P. A., Faber C. G., Gorson K., Hahn A., Hughes R. A. C., van der Kooi A., Lauria G., Leger J. M., Lewis R., Lunn M., Merkies I. S. J., Nobile-Orazio E., Notermans N. C., Querol L., van Schaik I., Zollinger Daniel, Zitterstein Annelies, van Engelen Baziel, Barreira A. A., Bennett D., van den Berg P., Cornblath D. R., Devigili G., Hadden R. D., Illa I., Padua L., Pouget J., Reilly M. M., de Visser M., van Nes S. I., Walk D. 196th ENMC international workshop: Outcome measures in inflammatory peripheral neuropathies 8-10 February 2013, Naarden, The Netherlands Neuromuscular disorders 2013;23 (11):924-933 [PubMed]
  • van der Kooi Anneke J., ten Dam Leroy, Frankhuizen Wendy S., Straathof Chiara S. M., van Doorn Pieter A., de Visser Marianne, Ginjaar Ieke B. ANO5 mutations in the Dutch limb girdle muscular dystrophy population Neuromuscular disorders 2013;23 (6):456-460 [PubMed]
  • Schade van Westrum Steven, Dekker Lukas, de Haan Rob, Endert Erik, Ginjaar Ieke, de Visser Marianne, van der Kooi Anneke Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers BMC neurology 2013;13:88 [PubMed]
  • de Jong Sonja, Huisman Mark, Sutedja Nadia, van der Kooi Anneke, de Visser Marianne, Schelhaas Jurgen, van der Schouw Yvonne, Veldink Jan, van den Berg Leonard Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis Journal of neurology 2013;260 (2):507-512 [PubMed]
  • van Rijsingen Ingrid A. W., Nannenberg Eline A., Arbustini Eloisa, Elliott Perry M., Mogensen Jens, Hermans-van Ast Johanna F., van der Kooi Anneke J., van Tintelen J. Peter, van den Berg Maarten P., Grasso Maurizia, Serio Alessandra, Jenkins Sharon, Rowland Camilla, Richard Pascale, Wilde Arthur A. M., Perrot Andreas, Pankuweit Sabine, Zwinderman Aeilko H., Charron Philippe, Christiaans Imke, Pinto Yigal M. Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers European journal of heart failure 2013;15 (4):376-384 [PubMed]
  • van Rheenen Wouter, Diekstra Frank P., van Doormaal Perry T. C., Seelen Meinie, Kenna Kevin, McLaughlin Russell, Shatunov Aleksey, Czell David, van Es Michael A., van Vught Paul W. J., van Damme Philip, Smith Bradley N., Waibel Stefan, Schelhaas H. Jurgen, van der Kooi Anneke J., de Visser Marianne, Weber Markus, Robberecht Wim, Hardiman Orla, Shaw Pamela J., Shaw Christopher E., Morrison Karen E., Al-Chalabi Ammar, Andersen Peter M., Ludolph Albert C., Veldink Jan H., van den Berg Leonard H. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis Neurobiology of aging 2013;34 (5):1517.e5-1517.e7 [PubMed]
  • van Rijsingen Ingrid A. W., Bakker Annemieke, Azim Donija, Hermans-van Ast Johanna F., van der Kooi Anneke J., van Tintelen J. Peter, van den Berg Maarten P., Christiaans Imke, Lekanne dit Deprez Ronald H., Wilde Arthur A. M., Zwinderman Aeilko H., Meijers Joost C. M., Grootemaat Anita E., Nieuwland Rienk, Pinto Yigal M., Pinto-Sietsma Sara-Joan Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications International journal of cardiology 2013;168 (1):472-477 [PubMed]
  • Huisman Mark H. B., Seelen Meinie, de Jong Sonja W., Dorresteijn Kirsten R. I. S., van Doormaal Perry T. C., van der Kooi Anneke J., de Visser Marianne, Schelhaas Helenius Jurgen, van den Berg Leonard H., Veldink Jan Herman Lifetime physical activity and the risk of amyotrophic lateral sclerosis Journal of neurology, neurosurgery, and psychiatry 2013;84 (9):976-981 [PubMed]
  • de Jong Sonja W., Huisman Mark H. B., Hennekam Eric A. M., Sutedja Nadia A., van der Kooi Anneke J., de Visser Marianne, Schelhaas H. Jurgen, Fischer Kathelijn, Veldink Jan H., van den Berg Leonard H. Parental age and the risk of amyotrophic lateral sclerosis Amyotrophic lateral sclerosis and frontotemporal degeneration 2013;14 (3):224-227 [PubMed]
  • ten Dam Leroy, van der Kooi Anneke J., van Wattingen Menno, de Haan Rob J., de Visser Marianne Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Author response Neurology 2013;80 (24):2275-2276 [PubMed]
  • ten Dam Leroy, van der Kooi Anneke J., van Wattingen Menno, de Haan Rob J., de Visser Marianne Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Author response. Neurology 2013;80 (24):2276-2277 [PubMed]
  • Kuitwaard Krista, van Doorn Pieter A., Vermeulen Marinus, van den Berg Leonard H., Brusse Esther, van der Kooi Anneke J., van der Pol W.-Ludo, van Schaik Ivo N., Notermans Nicolette, Tio-Gillen Anne P., van Rijs Wouter, van Gelder Teun, Jacobs Bart C. Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy Journal of neurology, neurosurgery, and psychiatry 2013;84 (8):859-861 [PubMed]
  • van Rijsingen Ingrid A. W., van der Kooi Anneke J., Pinto Yigal M. Sudden cardiac death in dilated cardiomyopathy and skeletal muscular dystrophyin: Ihor Gussak, Charles Antzelevitch, Arthur A. M. Wilde, Brian D. Powell, Michael J. Ackerman, Win-Kuang Shen, editors. Electrical Diseases of the Heart. Volume 2: Diagnosis and Treatment. London: Springer; 2013. p. 25-40, ISBN 9781447149774
  • Raaphorst J., Tuijp J., Verweij L., Westermann E. J. A., van der Kooi A. J., Gaytant M. A., van den Berg L. H., de Visser M., Kampelmacher M. J. Treatment of respiratory impairment in patients with motor neuron disease in the Netherlands: patient preference and timing of referral European journal of neurology 2013;20 (12):1524-1530 [PubMed]

2012

  • van der Beek Nadine A. M. E., de Vries Juna M., Hagemans Marloes L. C., Hop Wim C. J., Kroos Marian A., Wokke John H. J., de Visser Marianne, van Engelen Baziel G. M., Kuks Jan B. M., van der Kooi Anneke J., Notermans Nicolette C., Faber Karin G., Verschuuren Jan J. G. M., Reuser Arnold J. J., van der Ploeg Ans T., van Doorn Pieter A. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study Orphanet journal of rare diseases 2012;7 (1):88 [PubMed]
  • de Vries Juna M., van der Beek Nadine A. M. E., Hop Wim C. J., Karstens Francois P. J., Wokke John H., de Visser Marianne, van Engelen Baziel G. M., Kuks Jan B. M., van der Kooi Anneke J., Notermans Nicolette C., Faber Catharina G., Verschuuren Jan J. G. M., Kruijshaar Michelle E., Reuser Arnold J. J., van Doorn Pieter A., van der Ploeg Ans T. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study Orphanet journal of rare diseases 2012;7 (1):73 [PubMed]
  • van Blitterswijk Marka, van Es Michael A., Hennekam Eric A. M., Dooijes Dennis, van Rheenen Wouter, Medic Jelena, Bourque Pierre R., Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, de Bakker Paul I. W., Veldink Jan H., van den Berg Leonard H. Evidence for an oligogenic basis of amyotrophic lateral sclerosis Human molecular genetics 2012;21 (17):3776-3784 [PubMed]
  • van Blitterswijk Marka, Vlam Lotte, van Es Michael A., van der Pol W.-Ludo, Hennekam Eric A. M., Dooijes Dennis, Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. Genetic overlap between apparently sporadic motor neuron diseases PLoS ONE 2012;7 (11):e48983 [PubMed]
  • van Rheenen Wouter, van Blitterswijk Marka, Huisman Mark H. B., Vlam Lotte, van Doormaal Perry T. C., Seelen Meinie, Medic Jelena, Dooijes Dennis, de Visser Marianne, van der Kooi Anneke J., Raaphorst Joost, Schelhaas Helenius J., van der Pol W. Ludo, Veldink Jan H., van den Berg Leonard H. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases Neurology 2012;79 (9):878-882 [PubMed]
  • Verstraete Esther, Veldink Jan H., Huisman Mark H. B., Draak Tim, Uijtendaal Esther V., van der Kooi Anneke J., Schelhaas H. Jurgen, de Visser Marianne, van der Tweel Ingeborg, van den Berg Leonard H. Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial Journal of neurology, neurosurgery, and psychiatry 2012;83 (5):557-564 [PubMed]
  • Vanhoutte Els Karla, Faber Catharina Gerritdina, van Nes Sonja Ingrid, Jacobs Bart Casper, van Doorn Pieter Antoon, van Koningsveld Rinske, Cornblath David Reid, van der Kooi Anneke Jelly, Cats Elisabeth Aviva, van den Berg Leonard Hendrik, Notermans Nicolette Claudia, van der Pol Willem Lodewijk, Hermans Mieke Catharina Elisabeth, van der Beek Nadine Anna Maria Elisabeth, Gorson Kenneth Craig, Eurelings Marijke, Engelsman Jeroen, Boot Hendrik, Meijer Ronaldus Jacobus, Lauria Giuseppe, Tennant Alan, Merkies Ingemar Sergio José, Barreira A. A., Bennett D., van den Bergh P. Y. K., Bril V., Devigili G., Hadden R. D., Hahn A. F., Hartung H.-P., Hughes R. A. C., Illa I., Katzberg H., Léger J.-M., Lewis R. A., Lunn M. P. T., Nascimento O. J. M., Nobile-Orazio E., Padua L., Pouget J., Reilly M. M., van Schaik I., Smith B., de Visser M., Walk D. Modifying the Medical Research Council grading system through Rasch analyses Brain 2012;135 (5):1639-1649 [PubMed]
  • Vanhoutte Els Karla, Faber Catharina Gerritdina, Merkies Ingemar Sergio José, Barreira A. A., Bennett D., van den Bergh P. Y. K., Bril V., Devigili G., Hadden R. D., Hahn A. F., Hartung H.-P., Hughes R. A. C., Illa I., Katzberg H., van der Kooi A. J., Léger J.-M., Lewis R. A., Lunn M. P. T., Nobile-Orazio E., Padua L., Pouget J., Reilly M. M., van Schaik I., de Visser M. MRC sum-score in the ICU: good reliability does not necessarily reflect "true reliability" Muscle & nerve 2012;45 (5):767-8; author reply 768-9 [PubMed]
  • Vlam Lotte, Schelhaas Helenius J., van Blitterswijk Marka, van Vught Paul W. J., de Visser Marianne, van der Kooi Anneke J., van der Pol W.-Ludo, van den Berg Leonard H. Mutations in the TRPV4 Gene Are Not Associated With Sporadic Progressive Muscular Atrophy Archives of neurology 2012;69 (6):790-791 [PubMed]
  • van Blitterswijk Marka, van Vught Paul W. J., van Es Michael A., Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients Neurobiology of aging 2012;33 (5):1016.e1-1016.e7 [PubMed]
  • Scherrenberg L. A. M., Stalpers L. J. A., Grupstra H. F., van der Kooi A. J., Koning C. C. E. Radiotherapie voor speekselvloed bij amyotrofische laterale sclerose en de ziekte van Parkinson* Nederlands tijdschrift voor geneeskunde 2012;156 (7):A3868 [PubMed]
  • van Blitterswijk Marka, Blokhuis Anna, van Es Michael A., van Vught Paul W. J., Rowicka Paulina A., Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients Neurobiology of aging 2012;33 (8):1845.e1-1845.e3 [PubMed]
  • van Spaendonck-Zwarts K. Y., van der Kooi A. J., van den Berg M. P., Ippel E. F., Boven L. G., Yee W.-C., van den Wijngaard A., Brusse E., Hoogendijk J. E., Doevendans P. A., de Visser M., Jongbloed J. D. H., van Tintelen J. P. Recurrent and founder mutations in the Netherlands: the cardiac phenotype of founder mutations p.S13F and p.N342D Netherlands heart journal 2012;20 (5):219-228 [PubMed]
  • ten Dam Leroy, van der Kooi Anneke J., van Wattingen Menno, de Haan Rob J., de Visser Marianne Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies Neurology 2012;79 (16):1716-1723 [PubMed]
  • van Rijsingen Ingrid A. W., Arbustini Eloisa, Elliott Perry M., Mogensen Jens, Hermans-van Ast Johanna F., van der Kooi Anneke J., van Tintelen J. Peter, van den Berg Maarten P., Pilotto Andrea, Pasotti Michele, Jenkins Sharon, Rowland Camilla, Aslam Uzma, Wilde Arthur A. M., Perrot Andreas, Pankuweit Sabine, Zwinderman Aeilko H., Charron Philippe, Pinto Yigal M. Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers A European Cohort Study Journal of the American College of Cardiology 2012;59 (5):493-500 [PubMed]
  • de Jong Sonja W., Huisman Mark H. B., Sutedja Nadia A., van der Kooi Anneke J., de Visser Marianne, Schelhaas Helenius J., Fischer Kathelijn, Veldink Jan H., van den Berg Leonard H. Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study American journal of epidemiology 2012;176 (3):233-239 [PubMed]
  • van Doormaal Perry T. C., van Rheenen Wouter, van Blitterswijk Marka, Schellevis Raymond D., Schelhaas Helenius J., de Visser Marianne, van der Kooi Anneke J., Veldink Jan H., van den Berg Leonard H. UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands Neurobiology of aging 2012;33 (9):2233.e7-2233.e8 [PubMed]
  • van Blitterswijk Marka, van Es Michael A., Koppers Max, van Rheenen Wouter, Medic Jelena, Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient Neurobiology of aging 2012;33 (12):2950.e1-2950.e4 [PubMed]
  • Koppers Max, van Blitterswijk Marka M., Vlam Lotte, Rowicka Paulina A., van Vught Paul W. J., Groen Ewout J. N., Spliet Wim G. M., Engelen-Lee Jooyeon, Schelhaas Helenius J., de Visser Marianne, van der Kooi Anneke J., van der Pol W.-Ludo, Pasterkamp R. Jeroen, Veldink Jan H., van den Berg Leonard H. VCP mutations in familial and sporadic amyotrophic lateral sclerosis Neurobiology of aging 2012;33 (4):837.e7-837.13 [PubMed]

2011

  • van Es Michael A., Schelhaas Helenius J., van Vught Paul W. J., Ticozzi Nicola, Andersen Peter M., Groen Ewout J. N., Schulte Claudia, Blauw Hylke M., Koppers Max, Diekstra Frank P., Fumoto Katsumi, Leclerc Ashley Lyn, Keagle Pamela, Bloem Bastiaan R., Scheffer Hans, van Nuenen Bart F. L., van Blitterswijk Marka, van Rheenen Wouter, Wills Anne-Marie, Lowe Patrick P., Hu Guo-Fu, Yu Wenhao, Kishikawa Hiroko, Wu David, Folkerth Rebecca D., Mariani Claudio, Goldwurm Stefano, Pezzoli Gianni, van Damme Philip, Lemmens Robin, Dahlberg Caroline, Birve Anna, Fernández-Santiago Rubén, Waibel Stefan, Klein Christine, Weber Markus, van der Kooi Anneke J., de Visser Marianne, Verbaan Dagmar, van Hilten Jacobus J., Heutink Peter, Hennekam Eric A. M., Cuppen Edwin, Berg Daniela, Brown Robert H., Silani Vincenzo, Gasser Thomas, Ludolph Albert C., Robberecht Wim, Ophoff Roel A., Veldink Jan H., Pasterkamp R. Jeroen, de Bakker Paul I. W., Landers John E., van de Warrenburg Bart P., van den Berg Leonard H. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis Annals of neurology 2011;70 (6):964-973 [PubMed]
  • Schade van Westrum S. M., Hoogerwaard E. M., Dekker L., Standaar T. S., Bakker E., Ippel P. F., Oosterwijk J. C., Majoor-Krakauer D. F., van Essen A. J., Leschot N. J., Wilde A. A. M., de Haan R. J., de Visser M., van der Kooi A. J. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy Neurology 2011;77 (1):62-66 [PubMed]
  • Raaphorst Joost, de Visser Marianne, van Tol Marie-José, Linssen Wim H. J. P., van der Kooi Anneke J., de Haan Rob J., van den Berg Leonard H., Schmand Ben Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy Journal of neurology, neurosurgery, and psychiatry 2011;82 (2):170-175 [PubMed]
  • van Spaendonck-Zwarts K. Y., van Hessem L., Jongbloed J. D. H., de Walle H. E. K., Capetanaki Y., van der Kooi A. J., van Langen I. M., van den Berg M. P., van Tintelen J. P. Desmin-related myopathy Clinical genetics 2011;80 (4):354-366 [PubMed]
  • Huisman M. H. B., de Jong S. W., Verwijs M. C., Schelhaas H. J., van der Kooi A. J., de Visser M., Veldink J. H., van den Berg L. H. Family history of neurodegenerative and vascular diseases in ALS: a population-based study Neurology 2011;77 (14):1363-1369 [PubMed]
  • van der Kooi A. J., de Visser M. Hereditary neuromuscular diseases and cardiac involvementin: H. F. Baars, J. J. van der Smagt, P. A. F. M. Doevendans, editors. Clinical Cardiogenetics. London: Springer-Verlag; 2011. p. 385-400, ISBN 9781849964708
  • Huisman Mark H. B., de Jong Sonja W., van Doormaal Perry T. C., Weinreich Stephanie S., Schelhaas H. Jurgen, van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology Journal of neurology, neurosurgery, and psychiatry 2011;82 (10):1165-1170 [PubMed]
  • de Vries Sara D. J., Verhamme Camiel, van Ruissen Fred, van Paassen Barbara W., Arts Willem F., Kerkhoff Henk, van Engelen Baziel G. M., Lammens Martin, de Visser Marianne, Baas Frank, van der Kooi Anneke J. The phenotype of the Gly94fsX222 PMP22 insertion Journal of the peripheral nervous system 2011;16 (2):113-118 [PubMed]
  • Engelen Marc, van der Kooi Anneke J., Kemp Stephan, Wanders Ronald J. A., Sistermans Erik A., Waterham Hans R., Koelman Johannes T. M., van Geel Björn M., de Visser Marianne X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy Journal of the peripheral nervous system 2011;16 (4):353-355 [PubMed]

2010

  • Ruts L., Drenthen J., Jacobs B. C., van Doorn P. A., Sinnige H. A. W., van der Kooi A. J., van Dijk G. W., Vermeij F. H., Badrising U. A., van Schaik I. N., Verhey J. C. B., Straver J. S., Linssen W. H. J. P., Zandbergen E. G. J., de Rijk M. C., van der Pol W. L., Blankevoort J. P., Oenema D. G., Feenstra B., Hofstee D. J., Beekman R., Faber C. G., Bernsen R. A. I. A. M., Oerlemans W. G. H., Keunen R. W. M., Verheul G. H. M., Snoek J. W., van der Ree T. C., Schuiling W. J., Jongen J. L. M., Visser L. H., Lassouw G. M. J., de Kwa I. H., Don J. A., Taphoorn M. J. B., Visscher F., Witteveen R. J. W., Verschuuren J. J. G. M., Leenders E. M., van Domburg P. H. M. F., Zuidgeest D. M. H., Vroon H. J., Groen R. J. Distinguishing acute-onset CIDP from fluctuating Guillain-Barre syndrome: a prospective study Neurology 2010;74 (21):1680-1686 [PubMed]
  • van der Kooi A. J. Neuromusculaire aandoeningenin: J. H. B. M. Willems, N. H. Th. Croon, J. W. Koten, editors. Handboek Arbeid en Belastbaarheid. Houten: Bohn Stafleu Van Loghum; 2010. p. 1-26
  • Gerards Mike, van den Bosch Bianca, Calis Chantal, Schoonderwoerd Kees, van Engelen Klaartje, Tijssen Marina, de Coo René, van der Kooi Anneke, Smeets Hubert Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy Mitochondrion 2010;10 (5):510-515 [PubMed]
  • Kuitwaard K., van den Berg L. H., Vermeulen M., Brusse E., Cats E. A., van der Kooi A. J., Notermans N. C., van der Pol W.-L., van Schaik I. N., van Nes S. I., Hop W. C. J., van Doorn P. A. Randomised controlled trial comparing two different intravenous immunoglobulins in chronic inflammatory demyelinating polyradiculoneuropathy Journal of neurology, neurosurgery, and psychiatry 2010;81 (12):1374-1379 [PubMed]
  • Zutt R., van der Kooi A. J., Linthorst G. E., Wanders R. J. A., Verschuuren J. J. G. M., de Visser M. Recidiverende rabdomyolyse: zoek naar de onderliggende aandoening Nederlands tijdschrift voor geneeskunde 2010;154 (43):A2290 [PubMed]

2009

  • van der Kooi A. J., de Visser M., Carillo-Nunez I. M. A clinical approachin: R. P. Lisak, D. D. Truong, W. M. Carrol, R. Bhidayasiri, editors. International neurology. S.l.: Wiley-Blackwell; 2009. p. 215-222, ISBN 9781405157384
  • van Schaik Sander M., Kwa V. I. H., van der Kooi A. J. Acquired rippling muscle disease associated with mild myasthenia gravis: a case report Journal of neurology 2009;256 (7):1187-1188 [PubMed]
  • van Es Michael A., van Vught Paul W. J., Veldink Jan H., Andersen Peter M., Birve Anna, Lemmens Robin, Cronin Simon, van der Kooi Anneke J., de Visser Marianne, Schelhaas Helenius J., Hardiman Orla, Ragoussis Ioannis, Lambrechts Diether, Robberecht Wim, Wokke John H. J., Ophoff Roel A., van den Berg Leonard H. Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis Amyotrophic lateral sclerosis 2009;10 (5-6):441-U274 [PubMed]
  • Horlings C. G. C., Küng U. M., van Engelen B. G. M., Voermans N. C., Hengstman G. J. D., van der Kooi A. J., Bloem B. R., Allum J. H. J. Balance control in patients with distal versus proximal muscle weakness Neuroscience 2009;164 (4):1876-1886 [PubMed]
  • van der Graaff M., Kuiper T., Zwinderman A., van de Warrenburg B., Poels P., Offeringa A., van der Kooi A., Speelman H., de Visser M. Clinical Identification of Dysarthria Types among Neurologists, Residents in Neurology and Speech Therapists European neurology 2009;61 (5):295-300 [PubMed]
  • van Es Michael A., Veldink Jan H., Saris Christiaan G. J., Blauw Hylke M., van Vught Paul W. J., Birve Anna, Lemmens Robin, Schelhaas Helenius J., Groen Ewout J. N., Huisman Mark H. B., van der Kooi Anneke J., de Visser Marianne, Dahlberg Caroline, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Zwarts Machiel J., van Doormaal Perry T. C., Rujescu Dan, Strengman Eric, Giegling Ina, Muglia Pierandrea, Tomik Barbara, Slowik Agnieszka, Uitterlinden Andre G., Hendrich Corinna, Waibel Stefan, Meyer Thomas, Ludolph Albert C., Glass Jonathan D., Purcell Shaun, Cichon Sven, Nöthen Markus M., Wichmann H.-Erich, Schreiber Stefan, Vermeulen Sita H. H. M., Kiemeney Lambertus A., Wokke John H. J., Cronin Simon, McLaughlin Russell L., Hardiman Orla, Fumoto Katsumi, Pasterkamp R. Jeroen, Meininger Vincent, Melki Judith, Leigh P. Nigel, Shaw Christopher E., Landers John E., Al-Chalabi Ammar, Brown Robert H., Robberecht Wim, Andersen Peter M., Ophoff Roel A., van den Berg Leonard H. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis Nature genetics 2009;41 (10):1083-U53 [PubMed]
  • Carillo-Nunez I. M., van der Kooi A. J., de Visser M. Limb girdle dystrophiesin: R. P. Lisak, D. D. Truong, W. M. Carrol, R. Bhidayasiri, editors. International neurology. S.l.: Wiley-Blackwell; 2009. p. 215-222, ISBN 9781405157384
  • Hijdra A., de Gans J., van der Kooi A. J., de Visser M. Neurologische aandoeningenin: A. E. Meinders, R. O. B. Gans, M. M. Levi, J. A. Romijn, P. Vermeij, editors. Therapie in de interne geneeskunde. Maarssen: Elsevier gezondheidzorg; 2009. p. 913-963, ISBN 9789035230422
  • Hijdra A., de Gans J., van der Kooi A. J., de Visser M. Neurologische aandoeningen [Hoofdstuk 13]in: A. E. Meinders, R. O. B. Gans, M. M. Levi, J. A. Romijn, P. Vermeij, editors. Therapie in de interne geneeskunde [5e druk]. Maarssen: Elsevier gezondheidzorg; 2009. p. 913-963, ISBN 9789035230422
  • Straathof Chiara S. M., Overweg-Plandsoen W. C. G. Truus, van den Burg Gert Jan, van der Kooi Anneke J., Verschuuren Jan J. G. M., de Groot Imelda J. M. Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy Journal of neurology 2009;256 (5):768-773 [PubMed]
  • Mahdi-Rogers M., Rutterford C., Hughes R. A. C., Léger J.-M., Nobile-Orazio E., van den Bergh P., van Doorn P., van Schaik I. N., Hadden R. D. M., Choy E., Reilly M., Winer J., Evers E., van Doorn P. A., Créange A., Gueguen A., Uzenot D., Behin A., Nicolas G., Pautot V., Uncini A., Manzoli C., Lauria G., Pareyson D., Casellato C., Sabatelli M., Conte A., Luigetti M., Briani C., Lucchetta M., Schenone A., Benedetti L., Fiorina E., Brusse E., van der Kooi A. J., Guiloff R. J., Rakowicz W. P., Lecky B. R. F., Dougan C. F., Marshall D., Davies N., Busby M., Lansbury A., Overell J., Willison H. J., Rajabally Y. A., Kendall B., Gow D., Nixon J., Kulkarni O. Randomised controlled trial of methotrexate for chronic inflammatory demyelinating polyradiculoneuropathy (RMC trial): a pilot, multicentre study Lancet neurology 2009;8 (2):158-164 [PubMed]
  • Trip Jeroen, Drost Gea, Ginjaar Ieke, Nieman Fred, van der Kooi A. J., de Visser Marianne, van Engelen Baziel G., Faber Catherina Redefining the clinical phenotypes of non-dystrophic myotonic syndromes Journal of neurology, neurosurgery, and psychiatry 2009;80 (6):647-652 [PubMed]
  • van der Graaff Maaike M., Grolman Wilko, Westermann Erik J., Boogaardt Hans C., Koelman Hans, van der Kooi Anneke J., Tijssen Marina A., de Visser Marianne Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature Archives of neurology 2009;66 (11):1329-1333 [PubMed]

2008

  • Sylva M., van der Kooi A. J., Grolman W. Dyspnoea due to vocal fold abduction paresis in anti-MuSK myasthenia gravis Journal of neurology, neurosurgery, and psychiatry 2008;79 (9):1083-1084 [PubMed]
  • van der Kooi A. J., van Langen I. M., Aronica E., van Doorn P. A., Wokke J. H. J., Brusse E., Langerhorst C. T., Bergin P., Dekker L. R. C., Deprez R. H. Lekanne dit, de Visser M. Extension of the clinical spectrum of Danon disease Neurology 2008;70 (16):1358-1359 [PubMed]
  • Tieleman Alide A., van Vliet Judith, Jansen Jan B. M. J., van der Kooi Anneke J., Borm George F., van Engelen Baziel G. M. Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2 Neuromuscular disorders 2008;18 (8):646-649 [PubMed]
  • Trip Jeroen, Drost Gea, Verbove Dennis J., van der Kooi Anneke J., Kuks Jan B. M., Notermans Nicolette C., Verschuuren Jan J., de Visser Marianne, van Engelen Baziel G. M., Faber Carin G., Ginjaar Ieke B. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia European journal of human genetics 2008;16 (8):921-929 [PubMed]
  • Monnier Nicole, Marty Isabelle, Faure Julien, Castiglioni Claudia, Desnuelle Claude, Sacconi Sabrina, Estournet Brigitte, Ferreiro Ana, Romero Norma, Laquerriere Annie, Lazaro Leila, Martin Jean-Jacques, Morava Eva, Rossi Annick, van der Kooi Anneke, de Visser Marianne, Verschuuren Corien, Lunardi Joël Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores Human mutation 2008;29 (5):670-678 [PubMed]
  • Voermans N. C., Minnema M., Lammens M., Schelhaas H. J., van der Kooi A., Lokhorst H. M., van Engelen B. G. Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant Neurology 2008;71 (7):532-534 [PubMed]
  • Titulaer M. J., Wirtz P. W., Kuks J. B. M., Schelhaas H. J., van der Kooi A. J., Faber C. G., van der Pol W. L., de Visser M., Sillevis Smitt P. A. E., Verschuuren J. J. G. M. The Lambert-Eaton myasthenic syndrome 1988-2008: A clinical picture in 97 patients Journal of neuroimmunology 2008;201:153-158 [PubMed]

2007

  • van der Kooi Anneke J., de Voogt Willem G., de Visser Marianne Cardiac involvement in Bethlem myopathy - Reply Archives of neurology 2007;64 (6):915-916
  • van Tintelen J. Peter, Hofstra Robert M. W., Katerberg Hilga, Rossenbacker Tom, Wiesfeld Ans C. P., Sarvaas Gideon J. du Marchie, Wilde Arthur A. M., van Langen Irene M., Nannenberg Eline A., van der Kooi Anneke J., Kraak Marian, van Gelder Isabelle C., van Veldhuisen Dirk Jan, Vos Yvonne, van den Berg Maarten P. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics American heart journal 2007;154 (6):1130 1130-9-1139 [PubMed]
  • van der Kooi A. J., Frankhuizen W. S., Barth P. G., Howeler C. J., Padberg G. W., Spaans F., Wintzen A. R., Wokke J. H. J., van Ommen G.-J. B., de Visser M., Bakker E., Ginjaar H. B. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families Neurology 2007;68 (24):2125-2128 [PubMed]
  • Grootenhuis Martha A., de Boone Judith, van der Kooi Anneke J. Living with muscular dystrophy: health related quality of life consequences for children and adults Health and quality of life outcomes 2007;5:31 [PubMed]
  • van Deutekom Judith C., Janson Anneke A., Ginjaar Ieke B., Frankhuizen Wendy S., Aartsma-Rus Annemieke, Bremmer-Bout Mattie, den Dunnen Johan T., Koop Klaas, van der Kooi Anneke J., Goemans Nathalie M., de Kimpe Sjef J., Ekhart Peter F., Venneker Edna H., Platenburg Gerard J., Verschuuren Jan J., van Ommen Gert-Jan B. Local dystrophin restoration with antisense oligonucleotide PRO051 New England journal of medicine 2007;357 (26):2677-2686 [PubMed]
  • van der Kooi A. J. Neuromusculaire aandoeningenin: J. H. B. M. Willems, N. H. Th. Croon, J. W. Koten, editors. Handboek Arbeid en Belastbaarheid. Houten: Bohn Stafleu Van Loghum; 2007. p. 1-26

2006

  • van der Kooi Anneke J., de Voogt Willem G., Bertini Enrico, Merlini Luciano, Talim F. Beril, Ben Yaou Rabah, Urtziberea Andoni, de Visser Marianne Cardiac and pulmonary investigations in Bethlem myopathy Archives of neurology 2006;63 (11):1617-1621 [PubMed]

2005

  • Lucioli S., Giusti B., Mercuri E., Vanegas O. Camacho, Lucarini L., Pietroni V., Urtizberea A., Ben Yaou R., de Visser M., van der Kooi A. J., Bönnemann C., Iannaccone S. T., Merlini L., Bushby K., Muntoni F., Bertini E., Chu M.-L., Pepe G. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy Neurology 2005;64 (11):1931-1937 [PubMed]
  • van Berlo Jop H., de Voogt Willem G., van der Kooi Anneke J., van Tintelen J. Peter, Bonne Gisèle, Yaou Rabah Ben, Duboc Denis, Rossenbacker Tom, Heidbüchel Hein, de Visser Marianne, Crijns Harry J. G. M., Pinto Yigal M. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? Journal of molecular medicine (Berlin, Germany) 2005;83 (1):79-83 [PubMed]
  • van Engelen B. G. M., Muchir A., Hutchison C. J., van der Kooi A. J., Bonne G., Lammens M. The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene Neurology 2005;64 (2):374-376 [PubMed]

2004

  • Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A. J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H. J., Mallet A., Wehnert M., Schwartz K., Bonne G. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations Muscle & nerve 2004;30 (4):444-450 [PubMed]
  • Wirtz P. W., van Dijk J. G., van Doorn P. A., van Engelen B. G. M., van der Kooi A. J., Kuks J. B., Twijnstra A., de Visser M., Visser L. H., Wokke J. H., Wintzen A. R., Verschuuren J. J. The epidemiology of the Lambert-Eaton myasthenic syndrome in the Netherlands Neurology 2004;63 (2):397-398 [PubMed]

2003

  • Bonne Gisèle, Yaou Rabah Ben, Béroud Christophe, Boriani Giuseppe, Brown Sue, de Visser Marianne, Duboc Denis, Ellis Juliet, Hausmanowa-Petrusewicz Irena, Lattanzi Giovanna, Merlini Luciano, Morris Glenn, Muntoni Francesco, Opolski Grzegorz, Pinto Yigal M., Sangiuolo Federica, Toniolo Daniela, Trembath Richard, van Berlo Jop H., van der Kooi Anneke J., Wehnert Manfred 108th ENMC international workshop, 3rd workshop of the myo-cluster project: euromen, 7th international emery-dreifuss muscular dystrophy (edmd) workshop, 13-15 september 2002, naarden, the netherlands Neuromuscular disorders 2003;13 (6):508-515 [PubMed]

2002

  • Bonne Gisèle, Capeau Jaqueline, de Visser Marianne, Duboc Denis, Merlini Luciano, Morris Glenn E., Muntoni Francesco, Recan Dominique, Sewry Caroline, Squarzoni Stefano, Stewart Colin, Talim Beril, van der Kooi Anneke, Worman Howard, Schwartz Ketty 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands Neuromuscular disorders 2002;12 (2):187-194 [PubMed]
  • Pepe Guglielmina, Bertini Enrico, Bonaldo Paolo, Bushby Kate, Giusti Betti, de Visser Marianne, Guicheney Pascale, Lattanzi Giovanna, Merlini Luciano, Muntoni Francesco, Nishino Ichizo, Nonaka Ikuya, Yaou Rabah Ben, Sabatelli Patrizia, Sewry Caroline, Topaloglu Haluk, van der Kooi Anneke Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands Neuromuscular disorders 2002;12 (10):984-993 [PubMed]
  • van der Kooi A. J., Bonne G., Eymard B., Duboc D., Talim B., van der Valk M., Reiss P., Richard P., Demay L., Merlini L., Schwartz K., Busch H. F. M., de Visser M. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy Neurology 2002;59 (4):620-623 [PubMed]

2001

  • Hoogerwaard E. M., Schouten Y., van der Kooi A. J., Gorgels J. P., de Visser M., Sanders G. T. Troponin T and troponin I in carriers of Duchenne and Becker muscular dystrophy with cardiac involvement Clinical chemistry 2001;47 (5):962-963 [PubMed]

2000

  • van der Kooi A. J., Visser M. C., Rosenberg N., van den Berg-Vos R., Wokke J. H., Bakker E., de Visser M. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases Journal of neurology, neurosurgery, and psychiatry 2000;69 (1):114-116 [PubMed]
  • Muchir A., Bonne G., van der Kooi A. J., van Meegen M., Baas F., Bolhuis P. A., de Visser M., Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) Human molecular genetics 2000;9 (9):1453-1459 [PubMed]
  • Ginjaar H. B., van der Kooi A. J., Ceelie H., Kneppers A. L., van Meegen M., Barth P. G., Busch H. F., Wokke J. H., Anderson L. V., Bönnemann C. G., Jeanpierre M., Bolhuis P. A., Moorman A. F., de Visser M., Bakker E., Ommen G. J. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy Journal of neurology 2000;247 (7):524-529 [PubMed]

1999

  • Richard I., Bourg N., Marchand S., Alibert O., Eymard B., van der Kooi A. J., Jackson C. E., Garcia C., Burgunder J. M., Legum C., de Visser M., Fardeau M., Beckmann J. S. A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies Neuromuscular disorders 1999;9 (8):555-563 [PubMed]
  • Richard I., Roudaut C., Saenz A., Pogue R., Grimbergen J. E., Anderson L. V., Beley C., Cobo A. M., de Diego C., Eymard B., Gallano P., Ginjaar H. B., Lasa A., Pollitt C., Topaloglu H., Urtizberea J. A., de Visser M., van der Kooi A., Bushby K., Bakker E., Lopez de Munain A., Fardeau M., Beckmann J. S. Calpainopathy-a survey of mutations and polymorphisms American journal of human genetics 1999;64 (6):1524-1540 [PubMed]

1998

  • van der Kooi A. J., de Visser M., van Meegen M., Ginjaar H. B., van Essen A. J., Jennekens F. G., Jongen P. J., Leschot N. J., Bolhuis P. A. A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy Neuromuscular disorders 1998;8 (5):305-308 [PubMed]
  • van der Kooi A. J., Ginjaar H. B., Busch H. F., Wokke J. H., Barth P. G., de Visser M. Limb girdle muscular dystrophy: a pathological and immunohistochemical reevaluation Muscle & nerve 1998;21 (5):584-590 [PubMed]
  • van der Kooi A. J., de Voogt W. G., Barth P. G., Busch H. F., Jennekens F. G., Jongen P. J., de Visser M. The heart in limb girdle muscular dystrophy Heart (British Cardiac Society) 1998;79 (1):73-77 [PubMed]

1997

  • van der Kooi A. J., van Meegen M., Ledderhof T. M., McNally E. M., de Visser M., Bolhuis P. A. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21 American journal of human genetics 1997;60 (4):891-895 [PubMed]

1996

  • van der Kooi A. J., Ledderhof T. M., de Voogt W. G., Res C. J., Bouwsma G., Troost D., Busch H. F., Becker A. E., de Visser M. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement Annals of neurology 1996;39 (5):636-642 [PubMed]
  • van der Kooi A. J., Barth P. G., Busch H. F., de Haan R., Ginjaar H. B., van Essen A. J., van Hooff L. J., Höweler C. J., Jennekens F. G., Jongen P., Oosterhuis H. J., Padberg G. W., Spaans F., Wintzen A. R., Wokke J. H., Bakker E., van Ommen G. J., Bolhuis P. A., de Visser M. The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands Brain 1996;119 ( Pt 5):1471-1480 [PubMed]

1994

  • van der Kooi A. J., de Visser M., Barth P. G. Limb girdle muscular dystrophy: reappraisal of a rejected entity Clinical neurology and neurosurgery 1994;96 (3):209-218 [PubMed]
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