Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
about
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsInfantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and TwinkyRecessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyMutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresThe mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.Recent advances in hereditary spinocerebellar ataxias.Mitochondrial deficiency in Cockayne syndrome.Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.Biomarkers for mitochondrial respiratory chain disorders.Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Mitochondrial epilepsy in pediatric and adult patients.The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar AtaxiaNeuronal intranuclear hyaline inclusion disease with rapidly progressive neurological symptoms.Pirkko Santavuori (1933-2004).Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
P2860
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P2860
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
1994年學術文章
@zh-hant
name
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
@en
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
@nl
type
label
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
@en
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
@nl
prefLabel
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
@en
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
@nl
P2093
P1476
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
@en
P2093
P356
10.1016/0022-510X(94)90156-2
P577
1994-01-01T00:00:00Z