(Q28239044)

Daphne M van Beek

9

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Nicole I Wolf

Nicole I Wolf

1

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Richard J Rodenburg

Richard J Rodenburg

3

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Petra Pouwels

4

Petra J W Pouwels

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Jolanda H Schieving

5

Jolanda H Schieving

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author name string

Gajja S Salomons

2

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Terry G J Derks

6

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Johanna M Fock

7

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Patrick Rump

8

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Marjo S van der Knaap

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

10

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language of work or name

English

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publication date

July 2014

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published in

Annals of Neurology

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volume

76

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issue

1

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page(s)

134-9

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cites work

1 reference

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

21 January 2018

1 reference

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

21 January 2018

1 reference

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

21 January 2018

1 reference

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

Identification and analysis of inherited retinal disease genes

21 January 2018

1 reference

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

21 January 2018

1 reference

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

Two forms of human cytoplasmic arginyl-tRNA synthetase produced from two translation initiations by a single mRNA.

21 January 2018

1 reference

An important role for the multienzyme aminoacyl-tRNA synthetase complex in mammalian translation and cell growth

21 January 2018

1 reference

A three-dimensional working model of the multienzyme complex of aminoacyl-tRNA synthetases based on electron microscopic placements of tRNA and proteins

21 January 2018

1 reference

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

21 January 2018

1 reference

MSC p43 required for axonal development in motor neurons.

21 January 2018

1 reference

GARS axonopathy: not every neuron's cup of tRNA

21 January 2018

1 reference

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

21 January 2018

1 reference

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

21 January 2018

1 reference

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

21 January 2018

1 reference

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

Aminoacyl-tRNA synthetase complexes: beyond translation

21 January 2018

1 reference

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24167

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

24777941

1 reference

Consolidated OpenCitations Corpus – April 2017