ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

Item
http://www.wikidata.org/entity/Q57387330
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXThe c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.Arx is required for specification of the zona incerta and reticular nucleus of the thalamus.Development and validation of a multiplex-PCR assay for X-linked intellectual disability.Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.Complex single gene disorders and epilepsy.How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?A novel mutation in the OAR domain of the ARX gene.Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX
P2860

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

Item
http://www.wikidata.org/entity/Q57387330
description
im Januar 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 January 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2010
@uk
name
ARX polyalanine expansions are ...... epilepsy and/or hand dystonia
@en
ARX polyalanine expansions are ...... epilepsy and/or hand dystonia
@nl
type
label
ARX polyalanine expansions are ...... epilepsy and/or hand dystonia
@en
ARX polyalanine expansions are ...... epilepsy and/or hand dystonia
@nl
prefLabel
ARX polyalanine expansions are ...... epilepsy and/or hand dystonia
@en
ARX polyalanine expansions are ...... epilepsy and/or hand dystonia
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
ARX polyalanine expansions are ...... epilepsy and/or hand dystonia
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698