(Q35852103)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations (English)

1 reference

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6 March 2020

1

1 reference

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6 March 2020

Giorgio Tasca

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Jan L De Bleecker

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Corrado Angelini

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Sabrina Sacconi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Enzo Ricci

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Kathleen Claes

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Vincenzo Nigro

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Giuseppina Di Fruscio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Lucia Ruggiero

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Sandra Janssens

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Marc Delpech

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Olimpia Musumeci

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Antonio Toscano

9

1 reference

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6 March 2020

Lucio Santoro

12

1 reference

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6 March 2020

Luisa Politano

15

1 reference

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6 March 2020

publication date

30 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

25

1 reference

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6 March 2020

issue

7

1 reference

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6 March 2020

page(s)

533-541

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

6 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

ANO5-muscular dystrophy: clinical, pathological and molecular findings

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Next generation sequencing (NGS) strategies for the genetic testing of myopathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

CNVs of noncoding cis-regulatory elements in human disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Disease-targeted sequencing: a cornerstone in the clinic

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Predicting functional effect of human missense mutations using PolyPhen-2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Enhancer chip: detecting human copy number variations in regulatory elements

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Diagnostic strategy for limb-girdle muscular dystrophies.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Next-generation sequencing: ready for the clinics?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

A map of human genome variation from population-scale sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

A new distal myopathy with mutation in anoctamin 5.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

MutationTaster evaluates disease-causing potential of sequence alterations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

dbSNP: the NCBI database of genetic variation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Improved splice site detection in Genie

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

Muscle MRI findings in limb girdle muscular dystrophy type 2L

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4502439

14 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25891276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25891276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NMD.2015.03.011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

25891276

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25891276%20AND%20SRC:MED&resulttype=core&format=json