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Neuromuscular Disorders : NMD|March 6, 2015
Two novel nebulin variants in an adult patient with congenital nemaline myopathyAnne K Güttsches, Gabriele Dekomien, Kristl G Claeys, et al.
Neuromuscular Disorders : NMD|March 11, 2015
Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: evidence for a dysregulation at central levelMathias Poussel, Catherine Thil, Pierre Kaminsky, et al.
Neuromuscular Disorders : NMD|April 7, 2023
Amyloid-like IgM deposition neuropathy with multiple mononeuropathies and generalized neuropathyPannathat Soontrapa, Christopher J Klein, P James B Dyck, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measureValeria A Sansone, Alice Pirola, Andrea Lizio, et al.
Neuromuscular Disorders : NMD|March 30, 2021
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersenDrew MacCannell, Zdenek Berger, Lilly East, et al.
Neuromuscular Disorders : NMD|March 28, 2015
Skin features in myotonic dystrophy type 1: an observational studyA Campanati, M Giannoni, L Buratti, et al.
Neuromuscular Disorders : NMD|August 22, 2020
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patientsRanjini Srinivasan, Pomi Yun, Sarah Neuhaus, et al.
Neuromuscular Disorders : NMD|April 29, 2023
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related diseaseJuan Luis Restrepo-Vera, Patricia Muñoz-Cabello, Jordi Pérez-Rodon, et al.
Neuromuscular Disorders : NMD|July 14, 2020
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiencyGiulia Barcia, Sonia Khirani, Alessandro Amaddeo, et al.
Neuromuscular Disorders : NMD|August 20, 2020
Results of an open label feasibility study of sodium valproate in people with McArdle diseaseRenata S Scalco, Mads Stemmerik, Nicoline Løkken, et al.
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