about
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxinPhenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large familyA novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migrainePopulation genetics of wild-type CAG repeats in the Machado-Joseph disease gene in PortugalNeuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype studyExclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesSenataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesImplementation and Outcomes of a Collaborative Multi-Center Network Aimed at Web-Based Cognitive Training - COGWEB Network.Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.A rehabilitation tool designed for intensive web-based cognitive training: description and usability study.Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.The potential of motion quantification systems in the automatic evaluation of motor function after stroke.CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients.Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia.Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.Causes of death in Machado-Joseph disease: a case-control study in the Azores (Portugal).Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studiesAsian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph DiseaseLinkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins
P50
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P106
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7006153343
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0000-0002-3461-230X