Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy (Q34169437)

31 July 2017

title

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy (English)

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31 July 2017

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NISC Comparative Sequencing Program

31 July 2017

Davut Pehlivan

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Charles Searby

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Ya-Ming Hou

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Kevin Talbot

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object named as

NISC Comparative Sequencing Program

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31 July 2017

Leslie G Biesecker

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31 July 2017

Eric D Green

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31 July 2017

Anthony Antonellis

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31 July 2017

James C Mullikin

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31 July 2017

Stephan Züchner

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31 July 2017

James R Lupski

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31 July 2017

Praveen F Cherukuri

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31 July 2017

Heather M McLaughlin

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31 July 2017

Reiko Sakaguchi

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31 July 2017

Cuiping Liu

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31 July 2017

Takao Igarashi

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31 July 2017

Kristine Chu

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31 July 2017

Ram Iyer

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31 July 2017

Pedro Cruz

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31 July 2017

Nancy F Hansen

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31 July 2017

Thomas E Wilson

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31 July 2017

Victor Ionasescu

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31 July 2017

Garth Nicholson

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31 July 2017

Kinga Szigeti

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31 July 2017

language of work or name

English

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publication date

1 October 2010

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American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

560-566

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Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

31 July 2017

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28 July 2018

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A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

28 July 2018

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28 July 2018

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28 July 2018

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Crystal structure of tetrameric form of human lysyl-tRNA synthetase: Implications for multisynthetase complex formation

28 July 2018

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Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

28 July 2018

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An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

28 July 2018

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Intermediate forms of Charcot-Marie-Tooth neuropathy: a review

28 July 2018

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Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

28 July 2018

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

28 July 2018

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Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

28 July 2018

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SIFT: Predicting amino acid changes that affect protein function

28 July 2018

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

28 July 2018

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Human non-synonymous SNPs: server and survey

28 July 2018

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The human lysyl-tRNA synthetase gene encodes both the cytoplasmic and mitochondrial enzymes by means of an unusual alternative splicing of the primary transcript

28 July 2018

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Charcot-Marie-Tooth disease and related inherited neuropathies

28 July 2018

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Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

28 July 2018

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

28 July 2018

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Aminoacyl-tRNA synthetases

28 July 2018

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Sorting out the inherited neuropathies.

28 July 2018

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Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons

28 October 2018

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Prediction of protein stability changes for single-site mutations using support vector machines

28 October 2018

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Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

28 October 2018

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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

28 October 2018

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Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions

28 October 2018

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

28 October 2018

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In VitroCharacterization of the Interaction between HIV-1 Gag and Human Lysyl-tRNA Synthetase

28 October 2018

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Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name

9 December 2018

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12 December 2020

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations

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12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

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12 December 2020

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations

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12 December 2020

Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes

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10.1016/J.AJHG.2010.09.008

Identifiers

DOI

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31 July 2017

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31 July 2017

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