Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.
about
Structural basis for conformational switching and GTP loading of the large G protein atlastinThe fragile-X premutation: a maturing perspective.Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneityJapanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaPrevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refugeSocial economic costs and health-related quality of life in patients with degenerative cerebellar ataxia in SpainMutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosaProgression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients.Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partnersPrevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.Hereditary "pure" spastic paraplegia: a study of nine families.Pure hereditary spastic paraplegia.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.Hereditary spastic paraparesis: a review of new developments.Milestones in ataxiaIdentification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeatThe prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.Population based study of late onset cerebellar ataxia in south east Wales.Hereditary Cerebellar Ataxias: A Korean Perspective.Clinical aspects of hereditary ataxias.The genetics of hereditary spastic paraplegia and implications for drug therapy.The coexistence of multiple sclerosis and hereditary spastic paraparesis in a patient.Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).Degenerative Ataxias: challenges in clinical research.Recent advances in clinical neurogenetics.An update on Spino-cerebellar ataxiasClinical aspects of CAG repeat diseases.The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.The role of oxidative stress in Friedreich's ataxia.Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia.
P2860
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P2860
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh-hant
name
Hereditary ataxias and paraple ...... miological and clinical study.
@en
Hereditary ataxias and paraple ...... miological and clinical study.
@nl
type
label
Hereditary ataxias and paraple ...... miological and clinical study.
@en
Hereditary ataxias and paraple ...... miological and clinical study.
@nl
prefLabel
Hereditary ataxias and paraple ...... miological and clinical study.
@en
Hereditary ataxias and paraple ...... miological and clinical study.
@nl
P2093
P356
P1433
P1476
Hereditary ataxias and paraple ...... miological and clinical study.
@en
P2093
P304
P356
10.1093/BRAIN/114.2.855
P407
P478
114 ( Pt 2)
P577
1991-04-01T00:00:00Z