Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionInter-organelle ER-endolysosomal contact sites in metabolism and disease across evolutionMdm1/Snx13 is a novel ER-endolysosomal interorganelle tethering proteinHomozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breedEPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Systematic review of autosomal recessive ataxias and proposal for a classification.Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.Lysosomal Calcium in Neurodegeneration.Sorting nexin 3 mutation impairs development and neuronal function in Caenorhabditis elegans.Discovery and Roles of ER-Endolysosomal Contact Sites in Disease.Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.SNX14 mutations affect endoplasmic reticulum associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
P2860
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P2860
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@ast
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@en
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@nl
type
label
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@ast
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@en
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@nl
prefLabel
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@ast
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@en
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@nl
P2093
P2860
P50
P1476
Mutations in SNX14 cause a dis ...... ellectual disability syndrome.
@en
P2093
Andrew J Duncan
Anna C Thomas
Anna Straatmaan-Iwanowska
Bernadette Farren
Chela James
Chiara Bacchelli
Dagan Jenkins
Dawn Saunders
Deborah Morrogh
Estelle Chanudet
P2860
P304
P356
10.1016/J.AJHG.2014.10.007
P407
P577
2014-11-06T00:00:00Z