(Q34242488)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Next generation sequencing for molecular diagnosis of neuromuscular diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Johann Bohm

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Jean Muller

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Cécile Pizot

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Christine Tranchant

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Nicolas Levy

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Jean-Louis Mandel

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

12

Frédéric Plewniak

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

9

Vincent Laugel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

13

Serge Vicaire

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

7

Bernard Jost

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

15

Jamel Chelly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

17

Valérie Biancalana

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1

Nasim Vasli

1 reference

29 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

Stéphanie Le Gras

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Andoni Echaniz-Laguna

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Rafaelle Bernard

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Jocelyn Laporte

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

publication date

18 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

published in

Acta Neuropathologica

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

volume

124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

page(s)

273-283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00401-012-0982-8

29 January 2020

exact match

0 references

cites work

Understanding the contribution of synonymous mutations to human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

SVA: software for annotating and visualizing sequenced human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

PHAST and RPHAST: phylogenetic analysis with space/time models

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Integrative genomics viewer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Massively parallel sequencing and rare disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Massively parallel sequencing of ataxia genes after array-based enrichment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Targeted capture and massively parallel sequencing of 12 human exomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

What's new in congenital myopathies?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

The complete genome of an individual by massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

The diploid genome sequence of an individual human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

SIFT: Predicting amino acid changes that affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Human non-synonymous SNPs: server and survey

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Improved splice site detection in Genie

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Population frequencies of inherited neuromuscular diseases—A world survey

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400754

Pilot trial of salbutamol in central core and multi-minicore diseases

6 July 2018

1 reference

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Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0982-8

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0982-8

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-0982-8

The 2011 version of the gene table of neuromuscular disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22526018

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22526018

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00401-012-0982-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22526018%20AND%20SRC:MED&resulttype=core&format=json