Distal Myopathies
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical)
Reference58 articles.
1. Distal myopathies – new genetic entities expand diagnostic challenge;Udd;Neuromuscul Disord,2012
2. Distal myopathies;Udd;Curr Neurol Neurosci Rep,2014
3. Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion;Felice;Muscle Nerve,2001
4. Vladimir Karlovich Roth (1848-1916): the founder of neuromuscular diseases studies in Russia;Kazakov;Acta Myol,2014
5. A lecture on myopathy and a distal form: delivered at the National Hospital for the Paralyzed and Epileptic;Gowers;Br Med J,1902
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1. A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases;Gene;2024-11
2. A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene;Frontiers in Neurology;2023-09-27
3. Late‐onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often‐misdiagnosed disorder;Muscle & Nerve;2023-08-28
4. Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review;Genes;2023-01-12
5. A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores;CNS Neuroscience & Therapeutics;2021-06-25
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