SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
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Multiple Isoforms of Nesprin1 Are Integral Components of Ciliary Rootlets.Next-generation sequencing in neuromuscular diseases.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.A recessive ataxia diagnosis algorithm for the next generation sequencing era.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.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.ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairmentNesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles
P2860
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P2860
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年學術文章
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name
SYNE1 ataxia is a common reces ...... s: a large multi-centre study.
@en
SYNE1 ataxia is a common reces ...... s: a large multi-centre study.
@nl
type
label
SYNE1 ataxia is a common reces ...... s: a large multi-centre study.
@en
SYNE1 ataxia is a common reces ...... s: a large multi-centre study.
@nl
prefLabel
SYNE1 ataxia is a common reces ...... s: a large multi-centre study.
@en
SYNE1 ataxia is a common reces ...... s: a large multi-centre study.
@nl
P2093
P2860
P50
P356
P1433
P1476
SYNE1 ataxia is a common reces ...... es: a large multi-centre study
@en
P2093
Alexandra Durr
Caterina Mariotti
Claudia Stendel
Constanze Gallenmüller
Dagmar Timmann
Elisa Sarto
Jonathan Baets
Katrien Smets
Lorenzo Nanetti
Ludger Schöls
P2860
P304
P356
10.1093/BRAIN/AWW079
P407
P577
2016-04-17T00:00:00Z