Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
about
The PHR proteins: intracellular signaling hubs in neuronal development and axon degenerationLINC complexes mediate the positioning of cone photoreceptor nuclei in mouse retinaHeterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.Past, present and future therapeutics for cerebellar ataxias.Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Diversity of ARSACS mutations in French-Canadians.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxiaSun1 deficiency leads to cerebellar ataxia in miceHereditary ataxias: overview.Multiple system atrophy of the cerebellar type: clinical state of the art.Diseases of the Nucleoskeleton.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.Drosophila Nesprin-1 controls glutamate receptor density at neuromuscular junctions.A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.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.SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles
P2860
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P2860
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
@en
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
@nl
type
label
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
@en
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
@nl
altLabel
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
@en
prefLabel
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
@en
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
@nl
P2093
P50
P356
P1433
P1476
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
@en
P2093
Danielle de Verteuil
Denis Brunet
François Gros-Louis
Nicolas Chrestian
Steve Verreault
P2860
P356
10.1002/ANA.21143
P407
P577
2007-07-01T00:00:00Z