Neuromuscular disorders : NMD

Keyphrases

Publications

volume 43, 2024

Nicol C Voermans, Anne T M Dittrich, Sara Liguori, Chiara Panicucci, Antimo Moretti, David R Weber, Leanne M Ward, null null
274th ENMC international workshop: Recommendations for optimizing bone strength in neuromuscular disorders. Hoofddorp, The Netherlands, 19-21 January 2024. Neuromuscular disorders : NMD 43 (2024)
Leandre A la Fontaine, Johanna E Bruijnes, Fran Hp Smulders, Carla Gorissen-Brouwers, Ilse Ea Karnebeek, Hilde Mh Braakman, Sylvia Klinkenberg, Karlien Mul, Peter-Bram Ac 't Hoen, Sander Mj van Kuijk, Baziel Gm van Engelen, Ingemar Sj Merkies, Catharina G Faber
Comprehensive four-year disease progression assessment of myotonic dystrophy type 1. Neuromuscular disorders : NMD 43 (2024)
Juho Aaltio, Liliya Euro, Olli Tynninen, Hieu S Vu, Min Ni, Ralph J DeBerardinis, Anu Suomalainen, Pirjo Isohanni
Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD + deficiency. Neuromuscular disorders : NMD 43 (2024)
Esmee S B van Kleef, Sanne A J H van de Camp, Jan T Groothuis, Corrie E Erasmus, Michael A Gaytant, Bettine A H Vosse, Willemien de Weerd, Corien C Verschuuren-Bemelmans, Evita G Medici-Van den Herik, Carina Wallgren-Pettersson, Benno Küsters, Meyke Schouten, Baziel G M van Engelen, Coen A C Ottenheijm, Jonne Doorduin, Nicol C Voermans
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands. Neuromuscular disorders : NMD 43 (2024)
Kasper Holst Axelsen, Rebecca Kjær Andersen, Linda Kahr Andersen, John Vissing, Nanna Witting
Ocular versus generalized myasthenia gravis: a continuum associated with acetylcholine receptor antibody titers. Neuromuscular disorders : NMD 43 (2024)
Holly Borland, Ursula Moore, Heather Gordish Dressman, Anri Human, Anna G Mayhew, Heather Hilsden, Laura E Rufibach, Tina Duong, Elke Maron, Brittney DeWolf, Kristy Rose, Catherine Siener, Simone Thiele, Nieves Sanchez-Aguilera Práxedes, Aurélie Canal, Scott Holsten, Chikako Sakamoto, Irene Pedrosa-Hernández, Luca Bello, Lindsay N Alfano, Linda Pax Lowes, Meredith K James, Volker Straub
Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy. Neuromuscular disorders : NMD 43 (2024)

volume 42, 2024

Brendan Putko, Alan Pestronk, Gregory P Van Stavern, Cecile L Phan, Grayson Beecher, Teerin Liewluck
Ophthalmoparesis as an unusual manifestation of anti-3‑hydroxy-3-methyl-glutaryl-coenzyme A reductase antibody-associated myopathies. Neuromuscular disorders : NMD 42 (2024)
Lein Dofash, Krishnan Lyengar, Nolette Pereira, Jevin Parmar, Chiara Folland, Nigel Laing, Peter B Kang, Anita Cairns, Matthew Lynch, Mark Davis, Gianina Ravenscroft
Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy. Neuromuscular disorders : NMD 42 (2024)
Rebecca Finnegan, Adnan Manzur, Pinki Munot, Anil Dhawan, Archana Murugan, Anirban Majumdar, Elizabeth Wraige, Vasantha Gowda, Maria Vanegas, Marion Main, Emer O'Reilly, Giovanni Baranello, Francesco Muntoni, Mariacristina Scoto
Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1. Neuromuscular disorders : NMD 42 (2024)
Paula Panos-Basterra, Julian Theuriet, Aleksandra Nadaj-Pakleza, Armelle Magot, Beatrice Lannes, Pascale Marcorelles, Anthony Behin, Marion Masingue, Florence Caillon, Yannis Malek, Tanguy Fenouil, Joaquim Bas, Rita Menassa, Laurence Michel-Calemard, Nathalie Streichenberger, Jean-Philippe Simon, Francoise Bouhour, Teresinha Evangelista, Corinne Métay, Antoine Pegat, Tanya Stojkovic, Gorka Fernández-Eulate
Defining the landscape of TIA1 and SQSTM1 digenic myopathy. Neuromuscular disorders : NMD 42 (2024)
Johanna C W Deenen, Corinne G C Horlings, Nicol C Voermans, Pieter A van Doorn, Catharina G Faber, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Leo H Visser, Ria H A Broekgaarden, Anja M C Horemans, Jan J G M Verschuuren, André L M Verbeek, Baziel G M van Engelen
Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands. Neuromuscular disorders : NMD 42 (2024)
Lein Dofash, Krishnan Lyengar, Nolette Pereira, Jevin Parmar, Chiara Folland, Nigel Laing, Peter B Kang, Anita Cairns, Matthew Lynch, Mark Davis, Gianina Ravenscroft
Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy. Neuromuscular disorders : NMD 42 (2024)
Juerd Wijntjes, Christiaan Saris, Jonne Doorduin, Nens van Alfen, Baziel van Engelen, Karlien Mul
Improving Heckmatt muscle ultrasound grading scale through Rasch analysis. Neuromuscular disorders : NMD 42 (2024)
Juerd Wijntjes, Christiaan Saris, Jonne Doorduin, Nens van Alfen, Baziel van Engelen, Karlien Mul
Improving Heckmatt muscle ultrasound grading scale through Rasch analysis. Neuromuscular disorders : NMD 42 (2024)
Johanna C W Deenen, Corinne G C Horlings, Nicol C Voermans, Pieter A van Doorn, Catharina G Faber, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Leo H Visser, Ria H A Broekgaarden, Anja M C Horemans, Jan J G M Verschuuren, André L M Verbeek, Baziel G M van Engelen
Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands. Neuromuscular disorders : NMD 42 (2024)
Rebecca Finnegan, Adnan Manzur, Pinki Munot, Anil Dhawan, Archana Murugan, Anirban Majumdar, Elizabeth Wraige, Vasantha Gowda, Maria Vanegas, Marion Main, Emer O'Reilly, Giovanni Baranello, Francesco Muntoni, Mariacristina Scoto
Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1. Neuromuscular disorders : NMD 42 (2024)
Lein Dofash, Krishnan Lyengar, Nolette Pereira, Jevin Parmar, Chiara Folland, Nigel Laing, Peter B Kang, Anita Cairns, Matthew Lynch, Mark Davis, Gianina Ravenscroft
Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy. Neuromuscular disorders : NMD 42 (2024)
Paula Panos-Basterra, Julian Theuriet, Aleksandra Nadaj-Pakleza, Armelle Magot, Beatrice Lannes, Pascale Marcorelles, Anthony Behin, Marion Masingue, Florence Caillon, Yannis Malek, Tanguy Fenouil, Joaquim Bas, Rita Menassa, Laurence Michel-Calemard, Nathalie Streichenberger, Jean-Philippe Simon, Francoise Bouhour, Teresinha Evangelista, Corinne Métay, Antoine Pegat, Tanya Stojkovic, Gorka Fernández-Eulate
Defining the landscape of TIA1 and SQSTM1 digenic myopathy. Neuromuscular disorders : NMD 42 (2024)
Hippolyte Lequain, Nathalie Streichenberger, Laure Gallay, Mathieu Gerfaud-Valentin, Tanguy Fenouil, Maxime Bonjour, Karine Le Roux, Yvan Jamilloux, Pascal Leblanc, Pascal Sève
Granulomatous myositis: characteristics and outcome from a monocentric retrospective cohort study. Neuromuscular disorders : NMD 42 (2024)
Brendan Putko, Alan Pestronk, Gregory P Van Stavern, Cecile L Phan, Grayson Beecher, Teerin Liewluck
Ophthalmoparesis as an unusual manifestation of anti-3‑hydroxy-3-methyl-glutaryl-coenzyme A reductase antibody-associated myopathies. Neuromuscular disorders : NMD 42 (2024)
Johanna C W Deenen, Corinne G C Horlings, Nicol C Voermans, Pieter A van Doorn, Catharina G Faber, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Leo H Visser, Ria H A Broekgaarden, Anja M C Horemans, Jan J G M Verschuuren, André L M Verbeek, Baziel G M van Engelen
Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands. Neuromuscular disorders : NMD 42 (2024)
Rebecca Finnegan, Adnan Manzur, Pinki Munot, Anil Dhawan, Archana Murugan, Anirban Majumdar, Elizabeth Wraige, Vasantha Gowda, Maria Vanegas, Marion Main, Emer O'Reilly, Giovanni Baranello, Francesco Muntoni, Mariacristina Scoto
Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1. Neuromuscular disorders : NMD 42 (2024)
Juerd Wijntjes, Christiaan Saris, Jonne Doorduin, Nens van Alfen, Baziel van Engelen, Karlien Mul
Improving Heckmatt muscle ultrasound grading scale through Rasch analysis. Neuromuscular disorders : NMD 42 (2024)
Hippolyte Lequain, Nathalie Streichenberger, Laure Gallay, Mathieu Gerfaud-Valentin, Tanguy Fenouil, Maxime Bonjour, Karine Le Roux, Yvan Jamilloux, Pascal Leblanc, Pascal Sève
Granulomatous myositis: characteristics and outcome from a monocentric retrospective cohort study. Neuromuscular disorders : NMD 42 (2024)
Brendan Putko, Alan Pestronk, Gregory P Van Stavern, Cecile L Phan, Grayson Beecher, Teerin Liewluck
Ophthalmoparesis as an unusual manifestation of anti-3‑hydroxy-3-methyl-glutaryl-coenzyme A reductase antibody-associated myopathies. Neuromuscular disorders : NMD 42 (2024)
Paula Panos-Basterra, Julian Theuriet, Aleksandra Nadaj-Pakleza, Armelle Magot, Beatrice Lannes, Pascale Marcorelles, Anthony Behin, Marion Masingue, Florence Caillon, Yannis Malek, Tanguy Fenouil, Joaquim Bas, Rita Menassa, Laurence Michel-Calemard, Nathalie Streichenberger, Jean-Philippe Simon, Francoise Bouhour, Teresinha Evangelista, Corinne Métay, Antoine Pegat, Tanya Stojkovic, Gorka Fernández-Eulate
Defining the landscape of TIA1 and SQSTM1 digenic myopathy. Neuromuscular disorders : NMD 42 (2024)
Juerd Wijntjes, Christiaan Saris, Jonne Doorduin, Nens van Alfen, Baziel van Engelen, Karlien Mul
Improving Heckmatt muscle ultrasound grading scale through Rasch analysis. Neuromuscular disorders : NMD 42 (2024)
Hippolyte Lequain, Nathalie Streichenberger, Laure Gallay, Mathieu Gerfaud-Valentin, Tanguy Fenouil, Maxime Bonjour, Karine Le Roux, Yvan Jamilloux, Pascal Leblanc, Pascal Sève
Granulomatous myositis: characteristics and outcome from a monocentric retrospective cohort study. Neuromuscular disorders : NMD 42 (2024)
Lein Dofash, Krishnan Lyengar, Nolette Pereira, Jevin Parmar, Chiara Folland, Nigel Laing, Peter B Kang, Anita Cairns, Matthew Lynch, Mark Davis, Gianina Ravenscroft
Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy. Neuromuscular disorders : NMD 42 (2024)
Juerd Wijntjes, Christiaan Saris, Jonne Doorduin, Nens van Alfen, Baziel van Engelen, Karlien Mul
Improving Heckmatt muscle ultrasound grading scale through Rasch analysis. Neuromuscular disorders : NMD 42 (2024)

volume 41, 2024

Sonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, Brit Stævnsbo Pedersen, Estephani Medeiros, John Vissing
Quality of life in hypokalemic periodic paralysis - a survey. Neuromuscular disorders : NMD 41 (2024)
Ryota Kuroiwa, Kazumoto Shibuya, Takeshi Inagaki, Takeru Nara, Marie Nemoto, Yuka Doi, Manato Yasuda, Akiyuki Uzawa, Yuki Shiko, Atsushi Murata, Yoshitaka Yamanaka, Satoshi Kuwabara
Reliability and validity of cough peak flow measurements in myasthenia gravis. Neuromuscular disorders : NMD 41 (2024)
I Acosta, M Hofer, D Hilton-Jones, W Squier, S Brady
Treatment resistance in inclusion body myositis: the role of mast cells. Neuromuscular disorders : NMD 41 (2024)
Sonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, Brit Stævnsbo Pedersen, Estephani Medeiros, John Vissing
Quality of life in hypokalemic periodic paralysis - a survey. Neuromuscular disorders : NMD 41 (2024)
Ryota Kuroiwa, Kazumoto Shibuya, Takeshi Inagaki, Takeru Nara, Marie Nemoto, Yuka Doi, Manato Yasuda, Akiyuki Uzawa, Yuki Shiko, Atsushi Murata, Yoshitaka Yamanaka, Satoshi Kuwabara
Reliability and validity of cough peak flow measurements in myasthenia gravis. Neuromuscular disorders : NMD 41 (2024)
Zohar Argov
Statins in hereditary myopathies: to give or not to give. Neuromuscular disorders : NMD 41 (2024)
P Kaminskiene, T Stojkovic, D Roos-Weil, P Reimbold, A Chanut, E Lacene, T Evangelista
Rapidly progressive myopathy: unveiling light chain amyloidosis as an initial manifestation of multiple myeloma: a case report and literature review. Neuromuscular disorders : NMD 41 (2024)
Marianela Schiava, Robert Muni Lofra, John P Bourke, Meredith K James, Jordi Díaz-Manera, Maha A Elseed, Jassi Michel-Sodhi, Dionne Moat, Michelle Mccallum, Anna Mayhew, Elisabetta Ghimenton, Carla Florencia Bolaño Díaz, Monika Malinova, Karen Wong, Mark Richardson, Giorgio Tasca, Emma Grover, Emma-Jayne Robinson, Stephanie Tanner, Gail Eglon, Laura Behar, Michelle Eagle, Catherine Turner, José Verdú-Díaz, Emma Heslop, Volker Straub, Chiara Marini Bettolo, Michela Guglieri
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy. Neuromuscular disorders : NMD 41 (2024)
Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Francesca Salmin, Allan M Glanzman, Jaqueline Montes, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Emilio Albamonte, Adele D'Amico, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, Valeria A Sansone, John Day, Giovanni Baranello, Maria Carmela Pera, Francesco Muntoni, Richard Finkel, Eugenio Mercuri
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA. Neuromuscular disorders : NMD 41 (2024)
Marianela Schiava, Robert Muni Lofra, John P Bourke, Meredith K James, Jordi Díaz-Manera, Maha A Elseed, Jassi Michel-Sodhi, Dionne Moat, Michelle Mccallum, Anna Mayhew, Elisabetta Ghimenton, Carla Florencia Bolaño Díaz, Monika Malinova, Karen Wong, Mark Richardson, Giorgio Tasca, Emma Grover, Emma-Jayne Robinson, Stephanie Tanner, Gail Eglon, Laura Behar, Michelle Eagle, Catherine Turner, José Verdú-Díaz, Emma Heslop, Volker Straub, Chiara Marini Bettolo, Michela Guglieri
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy. Neuromuscular disorders : NMD 41 (2024)
Masahiro Iguchi, Jyunichiro Honjo, Toshiyuki Yamamoto, Kazuaki Kanai
Baricitinib as a treatment for myasthenia gravis: a case report. Neuromuscular disorders : NMD 41 (2024)
I Acosta, M Hofer, D Hilton-Jones, W Squier, S Brady
Treatment resistance in inclusion body myositis: the role of mast cells. Neuromuscular disorders : NMD 41 (2024)
Danny R van der Woude, Renske I Wadman, Fay-Lynn Asselman, Marja A G C Schoenmakers, Inge Cuppen, W Ludo van der Pol, Bart Bartels
Exploring functional strength changes during nusinersen treatment in symptomatic children with SMA types 2 and 3. Neuromuscular disorders : NMD 41 (2024)
Danny R van der Woude, Renske I Wadman, Fay-Lynn Asselman, Marja A G C Schoenmakers, Inge Cuppen, W Ludo van der Pol, Bart Bartels
Exploring functional strength changes during nusinersen treatment in symptomatic children with SMA types 2 and 3. Neuromuscular disorders : NMD 41 (2024)
Masahiro Iguchi, Jyunichiro Honjo, Toshiyuki Yamamoto, Kazuaki Kanai
Baricitinib as a treatment for myasthenia gravis: A case report. Neuromuscular disorders : NMD 41 (2024)
Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Francesca Salmin, Allan M Glanzman, Jaqueline Montes, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Emilio Albamonte, Adele D'Amico, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, Valeria A Sansone, John Day, Giovanni Baranello, Maria Carmela Pera, Francesco Muntoni, Richard Finkel, Eugenio Mercuri
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA. Neuromuscular disorders : NMD 41 (2024)
P Kaminskiene, T Stojkovic, D Roos-Weil, P Reimbold, A Chanut, E Lacene, T Evangelista
Rapidly progressive myopathy: unveiling light Chain amyloidosis as an initial manifestation of multiple myeloma. A case report and literature review. Neuromuscular disorders : NMD 41 (2024)
Zohar Argov
Statins in hereditary myopathies: to give or not to give. Neuromuscular disorders : NMD 41 (2024)

volume 40, 2024

Monica Alcantara, Carolina Barnett-Tapia, Vera Bril, Shabber Mannan, Jafar Shabanpour, Sarah Riaz, Eduardo Ng, Clodagh Ryan, Hans Katzberg
Office-based respiratory assessment in patients with generalized myasthenia gravis. Neuromuscular disorders : NMD 40 (2024)
Laura Serra, Antonio Petrucci, Michela Bruschini, Annalisa Botta, Corrado Campisi, Carlo Caltagirone, Marco Bozzali
Different neuropsychological and brain volumetric profiles in a pair of identical twins with myotonic dystrophy type 1 indicate a non-genetic modulation of clinical phenotype. Neuromuscular disorders : NMD 40 (2024)