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dominant cerebellar ataxia type 1 maps to chromo- and clinical correlations in spinocerebellar ataxia type 3 and some 14q24.3-qter: evidence for the existence of a fourth locus. Machado - Joseph disease . Ann ...
and pathological features, similar to those described in patients from the Haudebourg family, a core prototype of HAC, are indistinguishable from those of Machado - Joseph disease . It would then be possible ...
(SCA)1 to Machado ‐ Joseph disease (MJD)/SCA3, SCA6, SCA7, SCA10, SCA12, SCA17 and dentatorubral‐pallidoluysian atrophy (DRPLA). We registered the clinical characteristics and frequency of each type ...
=AbstractYIsashikiYKiiNOhbaMNakagawaRetinopathy associated with Machado - Joseph disease ( spinocerebellar ataxia 3) with CAG trinucleotide repeat expansion.Am J Ophthalmol.2001;131:808-810.http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?db=m ...
.YKawaguchiTOkamotoMTaniwakiCAG expansions in a novel gene for Machado - Joseph disease at chromosome 14q32.1.Nat Genet.1994;8:221-228.OZhuchenkoJBaileyPBonnenAutosomal dominant cerebellar ataxia (SCA6) associated with small ...
Abstract The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group of rare movement disorders characterized by progressive cerebellar ataxia variably associated ...
and biological effects depending on repeat length. Increasing C9orf72 repeat number has been associated with a small but significantly increased risk for clinically defined Parkinson’s disease . These results ...
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