Mutations in PEX10 are a cause of autosomal recessive ataxia.
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The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisZellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey.Childhood cerebellar ataxia.Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesClinical utility gene card for: Zellweger syndrome spectrum.Ataxia in children: early recognition and clinical evaluation.Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios.Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 genePeroxisome deficiency but not the defect in ether lipid synthesis causes activation of the innate immune system and axonal loss in the central nervous systemZellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.Peroxisome biogenesis disorders.
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P2860
Mutations in PEX10 are a cause of autosomal recessive ataxia.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Mutations in PEX10 are a cause of autosomal recessive ataxia.
@en
Mutations in PEX10 are a cause of autosomal recessive ataxia.
@nl
type
label
Mutations in PEX10 are a cause of autosomal recessive ataxia.
@en
Mutations in PEX10 are a cause of autosomal recessive ataxia.
@nl
prefLabel
Mutations in PEX10 are a cause of autosomal recessive ataxia.
@en
Mutations in PEX10 are a cause of autosomal recessive ataxia.
@nl
P2093
P356
P1433
P1476
Mutations in PEX10 are a cause of autosomal recessive ataxia
@en
P2093
Hans R Waterham
Jacques Jaeken
Linda De Meirleir
Merel S Ebberink
Nathalie Goemans
Rudy Van Coster
P304
P356
10.1002/ANA.22035
P577
2010-08-01T00:00:00Z