Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. (Q34381818)

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16 January 2020

title

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation (English)

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16 January 2020

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6

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16 January 2020

Ohad Birk

12

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16 January 2020

author name string

Miora Feinstein

1

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16 January 2020

Barak Markus

2

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16 January 2020

Iris Noyman

3

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16 January 2020

Hannah Shalev

4

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16 January 2020

Hagit Flusser

5

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16 January 2020

Keren Liani-Leibson

7

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16 January 2020

Zamir Shorer

8

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16 January 2020

Idan Cohen

9

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16 January 2020

Shareef Khateeb

10

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16 January 2020

Sara Sivan

11

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16 January 2020

language of work or name

English

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publication date

18 November 2010

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American Journal of Human Genetics

16 January 2020

published in

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volume

87

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16 January 2020

issue

6

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16 January 2020

page(s)

820-828

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Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

16 January 2020

cites work

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6 July 2018

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

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Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

6 July 2018

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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway

6 July 2018

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Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

6 July 2018

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Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton

6 July 2018

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PLA2G6 mutation underlies infantile neuroaxonal dystrophy

6 July 2018

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A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

6 July 2018

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"Heads and tails" of intermediate filament phosphorylation: multiple sites and functional insights.

6 July 2018

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Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein

6 July 2018

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Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

6 July 2018

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Neurofilament phosphoforms: surrogate markers for axonal injury, degeneration and loss

6 July 2018

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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

6 July 2018

1 reference

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A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

6 July 2018

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SMART, a simple modular architecture research tool: identification of signaling domains

6 July 2018

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Characterization of a novel tumor-derived cytokine. Endothelial-monocyte activating polypeptide II

6 July 2018

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Easy calculations of lod scores and genetic risks on small computers

6 July 2018

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6 July 2018

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6 July 2018

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Structural separation of different extracellular activities in aminoacyl-tRNA synthetase-interacting multi-functional protein, p43/AIMP1.

6 July 2018

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12 December 2020

Aminoacyl-tRNA synthetase-interacting multi-functional protein 1/p43: an emerging therapeutic protein working at systems level

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12 December 2020

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

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12 December 2020

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

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12 December 2020

10.1016/J.AJHG.2010.10.016

Identifiers

DOI

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16 January 2020

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16 January 2020

PubMed publication ID

21092922

1 reference