(Q42036972)

15 October 2017

Calpainopathy-a survey of mutations and polymorphisms (English)

1 reference

15 October 2017

Adolfo López de Munain

1 reference

ORCID Public Data File 2021

Robert Pogue

1 reference

ORCID Public Data File 2021

author name string

Richard I

1

1 reference

15 October 2017

Roudaut C

2

1 reference

15 October 2017

Saenz A

3

1 reference

15 October 2017

Pogue R

4

1 reference

15 October 2017

Grimbergen JE

5

1 reference

15 October 2017

Anderson LV

6

1 reference

15 October 2017

Beley C

7

1 reference

15 October 2017

Cobo AM

8

1 reference

15 October 2017

de Diego C

9

1 reference

15 October 2017

Eymard B

10

1 reference

15 October 2017

Gallano P

11

1 reference

15 October 2017

Ginjaar HB

12

1 reference

15 October 2017

Lasa A

13

1 reference

15 October 2017

Pollitt C

14

1 reference

15 October 2017

Topaloglu H

15

1 reference

15 October 2017

Urtizberea JA

16

1 reference

15 October 2017

de Visser M

17

1 reference

15 October 2017

van der Kooi A

18

1 reference

15 October 2017

Bushby K

19

1 reference

15 October 2017

Bakker E

20

1 reference

15 October 2017

Lopez de Munain A

21

1 reference

15 October 2017

Fardeau M

22

1 reference

15 October 2017

Beckmann JS

23

1 reference

15 October 2017

language of work or name

English

0 references

publication date

1 June 1999

1 reference

American Journal of Human Genetics

15 October 2017

1 reference

15 October 2017

64

1 reference

15 October 2017

6

1 reference

15 October 2017

1524-1540

1 reference

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Protein for Lp82 calpain is expressed and enzymatically active in young rat lens

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Cloning and expression of mRNA for calpain Lp82 from rat lens: splice variant of p94.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Scanning from an independently specified branch point defines the 3' splice site of mammalian introns

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Exon definition may facilitate splice site selection in RNAs with multiple exons

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

How neutral are synonymous codon mutations?

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377896

A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10330340

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Calpain-3 deficiency causes a mild muscular dystrophy in childhood

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10330340

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10330340

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302426

1 reference

15 October 2017

1 reference

15 October 2017

PubMed publication ID

10330340

1 reference