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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12–13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expandedExpand
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Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
Potassium channel mutations have been described in episodic neurological diseases. We report that K+ channel mutations cause disease phenotypes with neurodevelopmental and neurodegenerative features.Expand
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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA expression libraries, usingExpand
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Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features
Patients with spinocerebellar ataxia 3 (SCA3) and Machado‐Joseph disease (MJD) carry an expanded CAG repeat in the MJDl gene. One hundred twenty families of different geographic origin with autosomalExpand
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Neurodegenerative Genetics The underlying genetics of neurodegenerative disorders tend not to be well understood. Novarino et al. (p. 506; see the Perspective by Singleton) investigated theExpand
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Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
To test the hypothesis that the frequencies of normal alleles (ANs) with a relatively large number of CAG repeats (large ANs) are related to the prevalences of the dominant spinocerebellar ataxiasExpand
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Spectrin mutations cause spinocerebellar ataxia type 5
We have discovered that β-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and twoExpand
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Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
A POLYGLUTAMINE expansion (encoded by a CAG repeat) in specific proteins causes neurodegeneration in Huntington's disease (HD) and four other disorders1–6, by an unknown mechanism thought to involveExpand
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Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of theExpand
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Hereditary spastic paraplegias: an update
Purpose of reviewHereditary spastic paraplegias are a genetically heterogeneous group of diseases. Recent advances concerning their nosology and molecular bases have greatly improved the geneticExpand
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