(Q36406750)

14 August 2017

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients (English)

1 reference

limb-girdle muscular dystrophy

14 August 2017

0 references

1 reference

16

Nereo Bresolin

1 reference

14 August 2017

14

Stefania Corti

1 reference

14 August 2017

15

Maurizio Moggio

1 reference

14 August 2017

4

Monica Sciacco

1 reference

14 August 2017

8

Patrizia Ciscato

1 reference

14 August 2017

12

Andreina Bordoni

1 reference

14 August 2017

Francesca Magri

1

1 reference

14 August 2017

Roberto Del Bo

2

1 reference

14 August 2017

Maria Grazia D'Angelo

3

1 reference

14 August 2017

Sandra Gandossini

5

1 reference

14 August 2017

Alessandra Govoni

6

1 reference

14 August 2017

Laura Napoli

7

1 reference

14 August 2017

Francesco Fortunato

9

1 reference

14 August 2017

Erika Brighina

10

1 reference

14 August 2017

Sara Bonato

11

1 reference

14 August 2017

Valeria Lucchini

13

1 reference

14 August 2017

Giacomo Pietro Comi

17

1 reference

14 August 2017

27 June 2012

1 reference

14 August 2017

Neuromuscular Disorders

1 reference

14 August 2017

22

1 reference

14 August 2017

11

1 reference

14 August 2017

934-943

1 reference

Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

A new distal myopathy with mutation in anoctamin 5.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500692

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

21 September 2018

1 reference

12 December 2020

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

1 reference

12 December 2020

Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy

1 reference

12 December 2020

Sarcoglycan deficiency in a large Italian population of myopathic patients

1 reference

12 December 2020

Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

1 reference

12 December 2020

10.1016/J.NMD.2012.05.001

Identifiers

DOI

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

22742934

1 reference