Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
about
The PHR proteins: intracellular signaling hubs in neuronal development and axon degenerationThe nuclear envelope: an intriguing focal point for neurogenetic diseaseHeterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.Ataxia.Nuclear envelope: positioning nuclei and organizing synapsesA novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.Atypical presentation of late-onset Tay-Sachs diseaseA variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type IRare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.Systematic review of autosomal recessive ataxias and proposal for a classification.Multiple Isoforms of Nesprin1 Are Integral Components of Ciliary Rootlets.Diseases of the Nucleoskeleton.Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles
P2860
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P2860
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
@en
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
@nl
type
label
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
@en
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
@nl
prefLabel
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
@en
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
@nl
P2093
P1433
P1476
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
@en
P2093
Akio Yoshizawa
Fukashi Udaka
Hideshi Kawakami
Hirofumi Maruyama
Hiroyuki Morino
Kazuto Nishinaka
Masakuni Kameyama
Ryosuke Miyamoto
Yuishin Izumi
P304
P356
10.1212/WNL.0B013E3182815529
P407
P577
2013-01-16T00:00:00Z