Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. (Q36729177)

15 August 2017

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. (English)

1 reference

15 August 2017

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Xia Tian

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Wen-Chen Liang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Yanming Feng

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Jing Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Victor Wei Zhang

5

1 reference

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3 June 2020

Hsien-Da Huang

7

1 reference

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3 June 2020

Ching Wan Lam

8

1 reference

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3 June 2020

Ya-Yun Hsu

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Thy-Sheng Lin

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Wan-Tzu Chen

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Lee-Jun Wong

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Yuh-Jyh Jong

13

1 reference

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3 June 2020

publication date

13 August 2015

1 reference

15 August 2017

1 reference

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3 June 2020

volume

1

1 reference

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3 June 2020

issue

2

1 reference

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3 June 2020

page(s)

e14

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Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o

3 June 2020

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30 September 2017

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Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

30 September 2017

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The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review

30 September 2017

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Mutation update: the spectra of nebulin variants and associated myopathies

30 September 2017

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Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing

30 September 2017

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Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

30 September 2017

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Diagnostic approach to the congenital muscular dystrophies

30 September 2017

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Approach to the diagnosis of congenital myopathies

30 September 2017

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DNA testing for malignant hyperthermia: the reality and the dream

30 September 2017

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Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

30 September 2017

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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

30 September 2017

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Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

30 September 2017

1 reference

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Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

30 September 2017

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Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum

30 September 2017

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Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel

30 September 2017

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Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

30 September 2017

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Titin mutation segregates with hereditary myopathy with early respiratory failure

30 September 2017

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Next generation sequencing for molecular diagnosis of neuromuscular diseases.

30 September 2017

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Genetics of neuromuscular disorders

30 September 2017

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Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

30 September 2017

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Genetic evaluation of the floppy infant

30 September 2017

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Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

30 September 2017

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A method and server for predicting damaging missense mutations

30 September 2017

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Centronuclear myopathies: a widening concept

30 September 2017

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

30 September 2017

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

30 September 2017

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Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

30 September 2017

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Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

30 September 2017

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

28 June 2018

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28 June 2018

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5 September 2018

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Atypical phenotypes in titinopathies explained by second titin mutations

5 September 2018

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Gender differences in penetrance and phenotype in hypokalemic periodic paralysis

5 September 2018

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Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

5 September 2018

1 reference

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Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

5 September 2018

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Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations

4 December 2018

1 reference

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The 2012 version of the gene table of monogenic neuromuscular disorders

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066551

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066551

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066551

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/NXG.0000000000000015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

PubMed publication ID

27066551

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27066551%20AND%20SRC:MED&resulttype=core&format=json