about
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1The diagnostic value of saccades in movement disorder patients: a practical guide and reviewSpinocerebellar ataxia: patient and health professional perspectives on whether and how patents affect access to clinical genetic testing.Autosomal recessive spino-olivo-cerebellar degeneration without ataxia.Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.Brain acetylcholinesterase activity is markedly reduced in dominantly-inherited olivopontocerebellar atrophy.Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.Genetic and clinical patterns of heritable cerebellar ataxias in adults. II. Clinical manifestationsHereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.Genetic aspects of autosomal dominant late onset cerebellar ataxia.Identification of the SCA21 disease gene: remaining challenges and promising opportunitiesExpanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model.Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect populationSpinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study.The inherited ataxias and the new genetics.Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxiaLinkage investigations in two families with hereditary ataxia.Familial extrapyramidal disease with peripheral neuropathy.Low leukocyte glutamate dehydrogenase activity does not correlate with a particular type of multiple system atrophy.Ophthalmologic findings of Boucher-Neuhäuser syndrome.Parkinsonism-physiology and pharmacology.
P2860
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P2860
description
1970 nî lūn-bûn
@nan
1970 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1970 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1970年の論文
@ja
1970年論文
@yue
1970年論文
@zh-hant
1970年論文
@zh-hk
1970年論文
@zh-mo
1970年論文
@zh-tw
1970年论文
@wuu
name
The olivopontocerebellar atrophies: a review.
@ast
The olivopontocerebellar atrophies: a review.
@en
The olivopontocerebellar atrophies: a review.
@nl
type
label
The olivopontocerebellar atrophies: a review.
@ast
The olivopontocerebellar atrophies: a review.
@en
The olivopontocerebellar atrophies: a review.
@nl
prefLabel
The olivopontocerebellar atrophies: a review.
@ast
The olivopontocerebellar atrophies: a review.
@en
The olivopontocerebellar atrophies: a review.
@nl
P1433
P1476
The olivopontocerebellar atrophies: a review.
@en
P2093
Konigsmark BW
P304
P407
P577
1970-05-01T00:00:00Z