(Q57398255)

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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

scientific article published in November 1998

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5 December 2019

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 (English)

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5 December 2019

limb-girdle muscular dystrophy

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based on heuristic

inferred from title

Jacques S Beckmann

object named as

Jacques S. Beckmann

16

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5 December 2019

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Hisaomi Kawai

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5 December 2019

Masashi Akaike

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5 December 2019

Makoto Kunishige

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5 December 2019

Toshio Inui

4

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5 December 2019

Katsuhito Adachi

5

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5 December 2019

Chiyomi Kimura

6

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5 December 2019

Masakazu Kawajiri

7

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5 December 2019

Yoshihiko Nishida

8

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5 December 2019

Itsuro Endo

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5 December 2019

Setsuko Kashiwagi

10

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5 December 2019

Hiroshi Nishino

11

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5 December 2019

Tsutomu Fujiwara

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5 December 2019

Shiro Okuno

13

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5 December 2019

Carinne Roudaut

14

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5 December 2019

Isabelle Richard

15

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5 December 2019

Kazuo Miyoshi

17

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5 December 2019

Toshio Matsumoto

18

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5 December 2019

publication date

November 1998

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1 November 1998

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5 December 2019

Muscle and Nerve

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5 December 2019

21

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5 December 2019

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5 December 2019

1493-1501

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5 December 2019

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

1 reference

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21 January 2018

Localization and inhibition of calcium-activated neutral protease (CANP) in primate skeletal muscle and peripheral nerve

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

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21 January 2018

In vitro digestion of dystrophin by calcium-dependent proteases, calpains I and II

1 reference

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21 January 2018

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199811%2921%3A11%3C1493%3A%3AAID-MUS19%3E3.0.CO%3B2-1

21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

“Mini-mental state”

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

1 reference

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21 January 2018

Thiol protease and cathepsin D activities in selected tissues and cultured cells from normal and dystrophic mice

1 reference

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21 January 2018

Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures

1 reference

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21 January 2018

Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199811%2921%3A11%3C1493%3A%3AAID-MUS19%3E3.0.CO%3B2-1

21 January 2018

Lysosomal enzyme activities in skeletal muscle of patients with neuromuscular diseases

1 reference

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21 January 2018

Elevations of cathepsin B and cathepsin L activities in forelimb and hind limb muscles of genetically dystrophic mice

1 reference

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21 January 2018

Degradation of alpha-actinin during Ca2+-sensitive proteolysis of myofibrils

1 reference

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21 January 2018

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

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21 January 2018

Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

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21 January 2018

New era of calpain research. Discovery of tissue-specific calpains

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21 January 2018

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A).

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Calcium activated neutral protease--structure-function relationship and functional implications

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21 January 2018

Identifiers

10.1002/(SICI)1097-4598(199811)21:11<1493::AID-MUS19>3.0.CO;2-1

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5 December 2019

PubMed publication ID

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Europe PubMed Central

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5 December 2019

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