Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing - Wikidata - wikimedia - TriplyDB

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

http://www.wikidata.org/entity/Q36909537

about

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Recent advances in the genetic neuropathies.DCTN1-related neurodegeneration: Perry syndrome and beyond.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.Establishing diagnostic criteria for Perry syndrome.Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

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Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

http://www.wikidata.org/entity/Q36909537

description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

@zh

2016年论文

@zh-cn

name

Identification of Genetic Caus ...... Targeted Gene Panel Sequencing

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type

label

Identification of Genetic Caus ...... Targeted Gene Panel Sequencing

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prefLabel

Identification of Genetic Caus ...... Targeted Gene Panel Sequencing

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MOLCELLS.2016.2288

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Molecules and Cells

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Identification of Genetic Caus ...... Targeted Gene Panel Sequencing

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P2093

Byung-Ok Choi

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Da Eun Nam

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Geon Kwak

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Ki Wha Chung

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Soo Hyun Nam

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Sun Hee Hwang

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Young Bin Hong

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Young Se Hyun

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P2860

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

Connexin32 and X-linked Charcot-Marie-Tooth disease

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

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

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

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382-388

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scholarly article

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10.14348/MOLCELLS.2016.2288

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5

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39

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2016-03-30T00:00:00Z

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27025386

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4870185

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