The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach-Reference-Cited by-同舟云学术

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The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

Published:2001-04 Issue:3 Volume:11 Page:287-296
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Pollitt C.,Anderson L.V.B.,Pogue R.,Davison K.,Pyle A.,Bushby K.M.D.

Publisher

Elsevier BV

Subject

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

Reference19 articles.

1. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage;Beckmann;C R Acad Sci Ser III,1991

2. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A;Richard;Cell,1995

3. Calpainopathy a survey of mutations and polymorphisms;Richard;Am J Hum Genet,1999

4. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Réunion Island;Fardeau;Brain,1996

5. Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Réunion Island and French metropolitan communities;Fardeau;Neuromusc Disord,1996

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1. Loss of Calpain 3 dysregulates store‐operated calcium entry and its exercise response in mice;The FASEB Journal;2024-07-19

2. Loss of calpain 3 dysregulates store-operated calcium entry and its exercise response in mice;2024-01-15

3. A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort;Turkish Journal of Medical Sciences;2024-01-01

4. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12

5. LGMDR1 with Prominent Limb–Joint Contractures and Inflammatory Changes Misdiagnosed as Scleromyositis with a Novel CAPN3 Mutation: A Case Report;US Neurology;2023

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