(Q28281749)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731527%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

title

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731527%20AND%20SRC:MED&resulttype=core&format=json

limb-girdle muscular dystrophy

3 December 2019

main subject

Caenorhabditis elegans

0 references

spermatogenesis

0 references

1 reference

5

1 reference

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3 December 2019

Majlinda Lako

6

1 reference

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3 December 2019

Ibrahim Mahjneh

12

1 reference

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3 December 2019

Jacques S Beckmann

17

1 reference

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3 December 2019

Maria Rita Passos-Bueno

14

object named as

M R Passos-Bueno

1 reference

3 December 2019

R Bashir

1

1 reference

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3 December 2019

S Britton

2

1 reference

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3 December 2019

T Strachan

3

1 reference

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3 December 2019

S Keers

4

1 reference

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3 December 2019

I Richard

7

1 reference

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3 December 2019

S Marchand

8

1 reference

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3 December 2019

N Bourg

9

1 reference

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3 December 2019

Z Argov

10

1 reference

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3 December 2019

M Sadeh

11

1 reference

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3 December 2019

G Marconi

13

1 reference

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3 December 2019

E de S Moreira

15

1 reference

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3 December 2019

K Bushby

18

1 reference

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3 December 2019

M Zatz

16

1 reference

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3 December 2019

language of work or name

English

0 references

publication date

1 September 1998

1 reference

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3 December 2019

1 reference

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3 December 2019

volume

20

1 reference

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3 December 2019

issue

1

1 reference

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3 December 2019

page(s)

37-42

1 reference

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

3 December 2019

cites work

1 reference

7 January 2021

Muscular dystrophies: diseases of the dystrophin-glycoprotein complex

1 reference

7 January 2021

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

1 reference

7 January 2021

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

1 reference

7 January 2021

Caveolin-3 in muscular dystrophy

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region

1 reference

7 January 2021

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

1 reference

7 January 2021

Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14

1 reference

7 January 2021

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

1 reference

7 January 2021

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

7 January 2021

Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p

1 reference

7 January 2021

Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes

1 reference

7 January 2021

Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene.

1 reference

7 January 2021

Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13.

1 reference

7 January 2021

A large inbred Palestinian family with two forms of muscular dystrophy

1 reference

7 January 2021

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

1 reference

7 January 2021

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy

1 reference

7 January 2021

Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins

1 reference

7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

7 January 2021

Vesicle fusion from yeast to man

1 reference

7 January 2021

Viral and cellular membrane fusion proteins

1 reference

7 January 2021

SNAREpins: minimal machinery for membrane fusion

1 reference

7 January 2021

Structure of the first C2 domain of synaptotagmin I: a novel Ca2+/phospholipid-binding fold

1 reference

7 January 2021

Phosphorylation of dystrophin:effects on actin binding

1 reference

7 January 2021

Genetic counselling in facioscapulohumeral muscular dystrophy

1 reference

7 January 2021

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

1 reference

7 January 2021

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

1 reference

7 January 2021

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

1 reference

7 January 2021

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

1 reference

7 January 2021

The 1993-94 Généthon human genetic linkage map

1 reference

7 January 2021

A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage

1 reference

7 January 2021

Yeast artificial chromosome libraries containing large inserts from mouse and human DNA

1 reference

7 January 2021

Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries

1 reference

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

7 January 2021

A candidate gene for familial Mediterranean fever

1 reference

7 January 2021

Identifiers

DOI

10.1038/1689

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9731527%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017