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Neuromuscular Disorders : NMD|February 6, 2018
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variantMafalda Bacalhau, Marta Simões, Mariana C Rocha, et al.
Neuromuscular Disorders : NMD|January 24, 2018
Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?N Angeard, E Huerta, A Jacquette, et al.
Neuromuscular Disorders : NMD|January 7, 2018
Low-level dystrophin expression attenuating the dystrophinopathy phenotypeMegan A Waldrop, Felecia Gumienny, Saleh El Husayni, et al.
Neuromuscular Disorders : NMD|January 7, 2018
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethicsRichard S Finkel, Eugenio Mercuri, Oscar H Meyer, et al.
Neuromuscular Disorders : NMD|May 18, 2022
Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?Gabriela de Carvalho Nunes, Karl Grenier, Chelsea Maedler Kron, et al.
Neuromuscular Disorders : NMD|May 26, 2022
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophyAnna G Mayhew, Dionne Moat, Michael P McDermott, et al.
Neuromuscular Disorders : NMD|July 3, 2021
The phenotypic and genotypic features of a Scottish cohort with McArdle diseaseSacha E Gandhi, Cheryl Longman, Richard K H Petty, et al.
Neuromuscular Disorders : NMD|July 10, 2021
Characteristics of VCP mutation-associated cardiomyopathyStephani C Wang, Charles D Smith, Dawn M Lombardo, et al.
Neuromuscular Disorders : NMD|July 2, 2021
Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2Diogo Reis Carneiro, Olinda Rebelo, Anabela Matos, et al.
Neuromuscular Disorders : NMD|July 2, 2021
Late onset Sandhoff disease presenting with lower motor neuron disease and stutteringJorge Alonso-Pérez, Ana Casasús, Álvaro Gimenez-Muñoz, et al.
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