A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy (Q33685709)

28 July 2017

title

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy (English)

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limb-girdle muscular dystrophy

28 July 2017

main subject

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Hanns Lochmüller

20

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Volker Straub

19

object named as

Volker Straub

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7

Patrick F Chinnery

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6

Gavin Hudson

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Debbie Hicks

1

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Anna Sarkozy

2

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Nuria Muelas

3

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Katrin Köehler

4

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Angela Huebner

5

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Rita Barresi

8

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Michelle Eagle

9

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Tuomo Polvikoski

10

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Geraldine Bailey

11

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James Miller

12

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Aleksander Radunovic

13

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Paul J Hughes

14

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Richard Roberts

15

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Sabine Krause

16

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Maggie C Walter

17

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Steven H Laval

18

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Kate Bushby

21

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28 July 2017

language of work or name

English

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publication date

1 January 2011

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28 July 2017

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28 July 2017

volume

134

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issue

Pt 1

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28 July 2017

page(s)

171-182

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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

TMEM16 proteins produce volume-regulated chloride currents that are reduced in mice lacking TMEM16A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

ANO2 is the cilial calcium-activated chloride channel that may mediate olfactory amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

New aspects on patients affected by dysferlin deficient muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

Phenotypic variability in siblings with calpainopathy (LGMD2A).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

Expression cloning of TMEM16A as a calcium-activated chloride channel subunit

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

TMEM16A confers receptor-activated calcium-dependent chloride conductance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

The 10 autosomal recessive limb-girdle muscular dystrophies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038512

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ294

Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ294

A new phenotype of dysferlinopathy with congenital onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ294

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ294

Limb–girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ294

Late onset in dysferlinopathy widens the clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ294

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21186264

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21186264

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21186264

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWQ294

1 reference

28 July 2017

1 reference

28 July 2017

1 reference