Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.
about
Machado-Joseph Disease: from first descriptions to new perspectives.The gene for Machado-Joseph disease maps to human chromosome 14qMachado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.Hereditary spastic ataxia with congenital miosis: four cases in one family.Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutationAncestral origins of the Machado-Joseph disease mutation: a worldwide haplotype studySpinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families.Toward understanding Machado-Joseph diseaseA familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.Clinical aspects of hereditary ataxias.Brain MRI, lumbar CSF monoamine concentrations, and clinical descriptors of patients with spinocerebellar ataxia mutations.Delirium associated with Joseph diseaseCaring for Machado-Joseph disease: current understanding and how to help patients.Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease).Polyglutamine (PolyQ) diseases: genetics to treatments.Machado-Joseph disease of Azorean ancestry in Brazil: the Catarina kindred. Neurological, neuroimaging, psychiatric and neuropsychological findings in the largest known family, the "Catarina" kindred.A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10.Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients.An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients.Clinical aspects of CAG repeat diseases.The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study.Machado-Joseph disease in an American-Italian family.[Classification of hereditary cerebellar ataxias]DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus.Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3.The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients.Immunohistochemical study of neuronal intranuclear and cytoplasmic inclusions in Machado-Joseph disease.Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia.Flattened facial colliculus on magnetic resonance imaging in Machado-Joseph disease.Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3.Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.Neocortical atrophy in Machado-Joseph disease: a longitudinal neuroimaging study.Electrophysiological findings in a Danish family with Machado-Joseph disease.Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives.Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotypeMachado-Joseph disease in South Brazil: clinical and molecular characterization of kindredsNeuro-otological and Neuropathological Findings in two Cases with Machado-Joseph Disease
P2860
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P2860
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.
description
1972 nî lūn-bûn
@nan
1972年の論文
@ja
1972年学术文章
@wuu
1972年学术文章
@zh
1972年学术文章
@zh-cn
1972年学术文章
@zh-hans
1972年学术文章
@zh-my
1972年学术文章
@zh-sg
1972年學術文章
@yue
1972年學術文章
@zh-hant
name
Nigro-spino-dentatal degenerat ...... e clinico-pathological entity.
@en
Nigro-spino-dentatal degenerat ...... e clinico-pathological entity.
@nl
type
label
Nigro-spino-dentatal degenerat ...... e clinico-pathological entity.
@en
Nigro-spino-dentatal degenerat ...... e clinico-pathological entity.
@nl
prefLabel
Nigro-spino-dentatal degenerat ...... e clinico-pathological entity.
@en
Nigro-spino-dentatal degenerat ...... e clinico-pathological entity.
@nl
P1476
Nigro-spino-dentatal degenerat ...... e clinico-pathological entity.
@en
P2093
H H Schaumburg
P304
P356
10.1016/0022-510X(72)90137-2
P577
1972-10-01T00:00:00Z