An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d
β¦ LIBER β¦
Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion
β Scribed by P. J. Tuite; E. A. Rogaeva; P. H. St George-Hyslop; Dr A. E. Lang
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 476 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0364-5134
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β¦ Synopsis
Alternating hemiplegia syndrome: electroencephalogram, brain mapping and brain perfusion SPECT scan study in a Chinese girl. J. Child Neurol Bode H, Wick H. Abnormal #cerebral haemodynamics during attacks of alternating hemiplegia of childhood. Child New Syst Zupanc ML, Dobkin JA, Perlman SB. '"I-Iodoamphetamine SPECT brain imaging in alternating hemiplegia. Pediatr Neurol Siemes H, Cordes M. Single-photon emission computed tomography-investigations of alternating hemiplegia of childhood.
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