Dysferlinopathy in the Jews of the Caucasus: A frequent mutation in the dysferlin gene-Reference-Cited by-同舟云学术

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Dysferlinopathy in the Jews of the Caucasus: A frequent mutation in the dysferlin gene

Published:2007-12 Issue:11-12 Volume:17 Page:950-954
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Leshinsky-Silver E.,Argov Z.,Rozenboim L.,Cohen S.,Tzofi Z.,Cohen Y.,Wirguin Y.,Dabby R.,Lev D.,Sadeh M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference15 articles.

1. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B;Bashir;Nat Genet,1998

2. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998

3. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12–14;Bejaoui;Neurology,1995

4. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy;Aoki;Neurology,2001

5. Dysferlin is a plasma membrane protein and is expressed early in human development;Anderson;Hum Mol Genet,1999

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1. The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments;Biomolecules;2024-02-21

2. High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil;Current Genomics;2023-09

3. Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan;Molecular Genetics & Genomic Medicine;2023-08-08

4. Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India;Journal of Neuromuscular Diseases;2022-07-01

5. Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia;Frontiers in Neuroscience;2022-02-22

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