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Journal of Neuromuscular Diseases

IF3.4
Papers767
Citations1948
Journal Papers 737
Publication Date
An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participation
delete2026-09-29
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PREAI
deleteLizan Stinissen; Sanne A.J.H. van de Camp; Brentney Simon; Lindsay Goldberg; Baziel G.M. van Engelen; Kirsten E. Bevelander; Wija Oortwijn; Nicol C. Voermans;
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Adrenal insufficiency in individuals with Duchenne muscular dystrophy treated with glucocorticoids: Insights from the past, current challenges, and future directions
delete2026-09-22
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PREAI
deleteDavid R. Weber; Alexandra Ahmet; Kathi Kinnett; Maria-Elena Lautatzis; Hugh J. McMillan; Susan Apkon; Shipra Bansal; Robert W. Benjamin; Paula R. Clemens; Janet L. Crane; Melissa Fiscaletti; Carol Lam; Laura McAdam; Meilan M. Rutter; Nadia Merchant; Nat Nasomyont; Stefan Nicolau; Kim Phung; Nora Renthal; Mena Scavina; Julia Sorbara; Jaclyn Tamaroff; Cuixia Tian; Claire Wood; Tommaso Aversa; Luca Bello; Sabrina Corbetta; Francesca Cumbo; Luisa De Sanctis; Natascia Di Iorgi; Alberto Ferlin; Danilo Fintini; Eugenio Maria Mercuri; Chiara Panicucci; Gianluca Tornese; Rachel Schrader; Kathryn A. Selby; Aravindhan Veerapandiyan; Sze Choong Wong; Leanne M. Ward; Anne Marie Sbrocchi
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Delving into the clinical and genetic spectrum of NLSDM: A case study
delete2026-09-21
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PREAI
deleteDaniela Tavian; Barbara Risi; Laura Moro; Elena M. Pennisi; Alessandro Padovani; Corrado Angelini; Sara Missaglia; Massimiliano Filosto
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Cramps as the initial presentation of CANVAS/RFC1-related disorder
delete2026-09-18
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PREAI
deleteJoaquín Machado; Jocelyn Zwicker; Pierre R. Bourque; Hanns Lochmüller; Jodi Warman-Chardon; Alberto Aleman; Fien Oelbrandt; Ari Breiner
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Functional assessments used in routine care for duchenne muscular dystrophy in the United States: A survey of certified duchenne care centers
delete2026-09-09
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PREAI
deleteRuthwik Duvuru; Eric Camino; Rachel Schrader; Megan Freed; James Signorovitch; Jia Zhong; Shimin Bi; Susan J. Ward; Aravindhan Veerapandiyan
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X-linked myotubular myopathy, liver disease, and gene therapy
delete2026-09-09
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PREAI
deleteEmanuela Pannia; Sophie Karolczak; Rachel Stine; James J. Dowling
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Monomethylation of cytosolic 5′-nucleotidase 1A affects its recognition by inclusion body myositis autoantibodies
delete2026-09-02
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PREAI
deleteFleur Brinkman; Marian Barandica Graciani; Amrah Weijn; Filine Swets; Seher Al Bana; Chien-Yun Lee; Ger J. M. Pruijn
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Pembrolizumab-associated myasthenia gravis in thymic tumors: A single-center case series and comparative analysis
delete2026-09-01
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PREAI
deleteSoonwook Kwon; Soo Ryun Park; Hyunjin Ju; Yeon Hak Chung; Eun Kyoung Kim; Se-Hoon Lee; Ju-Hong Min
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Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome
delete2026-08-29
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PREAI
deleteKatharina Vill; Theresa Brunet; Melanie Brugger; Matias Wagner; Matthias Baumann; Ulrich Schatz; Astrid Pechmann; Iris Hannibal; Moritz Tacke; Cecilia Giunta; Walter Wohlgemuth; Moritz Wildgruber; Wolfgang Müller-Felber; Astrid Blaschek; Marianne Rohrbach; Veronika Huf
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Total body and appendicular lean mass by dual-energy X-ray absorptiometry are highly associated with muscle function and bone mineral density in Becker muscular dystrophy
delete2026-08-28
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PREAI
deleteRana Halloun; Stefan Jackowski; Maya Scharke; Utkarsh J. Dang; Fahd Alshammri; Jinhui Ma; Ken Gaither; Thomas Fuerst; Hugh J. McMillan; Kerry Siminoski; James MacDougall; Joanne Donovan; Leanne M. Ward
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Exon-skipping therapies for DMD in Kazakhstan: Progress and challenges
delete2026-08-27
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PREAI
deleteAltynshash Jaxybayeva; Bakhytkul Myrzaliyeva; Marzhan Lepessova; Latina Tekebayeva; Dinmukhamed Ayaganov
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Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland – part II – expert based recommendations for surveillance and management of side-effects
delete2026-08-27
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PREAI
deleteAndreas Ziegler; Claudia Weiß; Katharina Vill; Matthias Baumann; Günther Bernert; Astrid Blaschek; Astrid Eisenkölbl; Marina Flotats-Bastardas; Johannes Friese; Dorothea Holzwarth; Claudia Ganter; Klaus Goldhahn; Andreas Hahn; Maja von der Hagen; Hans Hartmann; Oswald Hasselmann; Veronka Horber; Ralf A Husain; Sabine Illsinger; David Jacquier; Jessika Johannsen; Cornelia Köhler; Heike Kölbel; Michael Kolodzig; Andrea Klein; Astrid Pechmann; Arpad von Moers; Wolfgang Müller-Felber; Christian Rauscher; Gudrun Schreiber; Oliver Schwartz; Joachim Sproß; Georg M Stettner; Corinna Stoltenburg; Eva Stumpe; Regina Trollmann; Gerd Wiegand; Ekkehard Wilichowski; Ulrike Schara; Janbernd Kirschner; Carsten Müller-Tidow; Georg Friedrich Hoffmann; Peter Dreger; Maria-Luisa Schubert; Andreas Ziegler; Stefan Kölker; Thomas Opladen; Ulrike Schara-Schmidt; Nina Rademacher; Bastian von Tresckow; Christian Reinhardt; Marcel Teichert; Veronka Horber; Hendrik Rosewich; Samuel Gröschel; Wolfgang Bethge; Claudia Lengerke; Bärbel Entrich; Claudia Weiß; Angela M. Kaindl; Joanna Schneider; Lisa-Valerie Bitzan; Antonia Busse; Lars Bullinger; Olaf Penack; Maja von der Hagen; Martin Smitka; Josephine Schädlich; Malte von Bonin; Martin Bornhäuser; Raphael Teipel; Astrid Blaschek; Katharina Vill; Wolfgang Müller-Felber; Moritz Tacke; Fabian Hauck; Christoph Klein; Veit Bücklein; Marion Subklewe; Michael von Bergwelt; Regina Trollmann; Fabian Müller; Andreas Mackensen; Dennis Bene; Jessika Johannsen; Ania C. Muntau; Jonas Denecke; Francis Ayuketang Ayuk; Silke Heidenreich; Gesine Bug; Hubert Serve; Julia Riemann; Eva Wagner-Drouet; Beate Hauptrock; Oliver Schwartz; Hélène Guillemot; Heymut Omran; Simon Call; Matthias Stelljes; Georg Lenz; Anna Ossami Saidy; Bertram Glaß; Aleksandar Radujkovic; Sascha Dietrich; Ben-Niklas Bärmann; Friedrich Stölzel; Claudia Baldus; Natalie Schub; Sabine Illsinger; Dieter Haffner; Hans Hartmann; Astrid Pechmann; Janbernd Kirschner; Lutz Hein; Dorothea Holzwarth; Alexandra Klotz; Franziska Busch; Lisa Allenstein; Gabriel Dworschak; Andreas A. Hahn; Bernd A. Neubauer; Marina Flotats-Bastardas; Michael Zemlin; Klaus Goldhahn; Arpad von Moers; Ellen Knierim; Christian Friese; Gudrun Schreiber; Bernd Wilken; Cornelia Köhler; Thomas Lücke; Christoph Hanefeld; Sebahattin Cirak; Antje Westhoff; Kübra Erden; Lisa Benedikter; Sandra Zinke; Gerald Wulf; Wolfram Jung; Justin Hasenkamp
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Biallelic SIGMAR1 variants in early-onset distal hereditary motor neuropathy: A Japanese case series
delete2026-08-25
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PREAI
deleteKento Kodama; Masahiro Ando; Yujiro Higuchi; Jun-Hui Yuan; Akiko Yoshimura; Makoto Samukawa; Motomasa Suzuki; Shunsuke Ogaya; Yuka Kawata; Naoki Gamo; Shin Hisahara; Chikashi Yano; Risa Nagatomo; Takahiro Hobara; Fumikazu Kojima; Yu Hiramatsu; Satoshi Nozuma; Yusuke Sakiyama; Jun Mitsui; Shoji Tsuji; Hiroshi Takashima
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Anti-SRP immune-mediated necrotizing myopathy from childhood to adulthood: A case series highlighting rituximab-responsive disease
delete2026-08-19
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PREAI
deleteSeon-Jae Ahn; Jee Min Kim; Han Sang Lee; Seungbok Lee; Narae Kim; Soo Yeon Kim; Hye Jin Yoo; Eun Na Kim; Jae-Kyung Won; Jin Sook Lee; Jangsup Moon; Jong-Hee Chae
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Clinicopathological and serological spectrum of idiopathic inflammatory myopathies: Experience from a neuromuscular referral center in Cyprus
delete2026-08-18
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PREAI
deleteTasos Tsokkos; Eleni Zamba-Papanicolaou; Revekka Papacharalambous; Christodoulos Taliadoros; Kleopas A. Kleopa
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Longitudinal overview of symptomatic and immunosuppressive drugs in LEMS
delete2026-08-17
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PREAI
deleteWisse R. Bakker; Linda Remijn-Nelissen; Teun van Gelder; Romina Shahini; Jan J. G. M. Verschuuren; Martijn R. Tannemaat
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Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study
delete2026-08-14
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PREAI
deleteOlga Prikhodko; Tatyana A. Vetter; Sophie Colombo; Chris Freitag; Dominique Nijkamp; Louise Eyler; Leen Thielemans; Jonathan Baets; Mads Stemmerik; John Vissing; Ros Quinlivan; Michela Guglieri; Federica Montagnese; Benedikt Schoser; Frederik Braun; Ulrike Schara; Kris E. Leeuwenberg; Nens van Alfen; Michael W. Lawlor; Belinda S Cowling; Nicol C. Voermans
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Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status
delete2026-08-05
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deleteGeorge Umemoto; Yoichi Hatamoto; Hajime Arahata; Shinsuke Fujioka; Yukiya Tanoue; Yosuke Yamada; Rie Tomiga-Takae; Yasuki Higaki
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Prospective study of efgartigimod in severe myasthenia gravis exacerbations requiring ventilatory or enteral support
delete2026-08-04
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PREAI
deleteShahar Shelly; Ayal Rosenberg; Mohamad Zoabi; Saliba Makhoul; Roni Ramon-Gonen; Gil I. Wolfe
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