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UnknownFunctional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Not available
S-EPMC11203308 | biostudies-literature
UnknownLong-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study.
Not available
S-EPMC5571945 | biostudies-literature
UnknownDisease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Not available
S-EPMC12678052 | biostudies-literature
UnknownBulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
Not available
S-EPMC11414798 | biostudies-literature
UnknownObjective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Not available
S-EPMC9369031 | biostudies-literature
UnknownSafety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.
Not available
S-EPMC12741558 | biostudies-literature
UnknownEplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
Not available
S-EPMC10540057 | biostudies-literature
UnknownCongenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Not available
S-EPMC11531845 | biostudies-literature
UnknownNationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.
Not available
S-EPMC12313827 | biostudies-literature
UnknownMedical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database.
Not available
S-EPMC12577294 | biostudies-literature
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