Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
about
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairmentNesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles
P2860
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
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
Homozygous SYNE1 mutation caus ...... enotype-phenotype correlation.
@en
Homozygous SYNE1 mutation caus ...... enotype-phenotype correlation.
@nl
type
label
Homozygous SYNE1 mutation caus ...... enotype-phenotype correlation.
@en
Homozygous SYNE1 mutation caus ...... enotype-phenotype correlation.
@nl
prefLabel
Homozygous SYNE1 mutation caus ...... enotype-phenotype correlation.
@en
Homozygous SYNE1 mutation caus ...... enotype-phenotype correlation.
@nl
P2093
P2860
P356
P1476
Homozygous SYNE1 mutation caus ...... enotype-phenotype correlation.
@en
P2093
Birgit Krabichler
Elisabeth Steichen-Gersdorf
Johannes Zschocke
Matthias Baumann
Reginald E Bittner
Thomas Müller
Ulrike Weber
Wolfgang M Schmidt
P2860
P2888
P304
P356
10.1038/EJHG.2016.144
P577
2016-10-26T00:00:00Z