𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2

✍ Scribed by Tohru Matsuura; H. Sasaki; Ichiro Yabe; Koji Hamada; Takeshi Hamada; Masayo Shitara; Kunio Tashiro

Publisher
Springer
Year
1999
Tongue
English
Weight
58 KB
Volume
246
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Somatic mosaicism of the CAG repeat expa
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease
✍ GΓ©raldine Cancel; Isabelle Gourfinkel-An; Giovanni Stevanin; Olivier Didierjean; πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 159 KB πŸ‘ 1 views

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

Comparative studies of the CAG repeats i
Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene
✍ Limprasert, Pornprot; Nouri, Nassim; Nopparatana, Chamnong; Deininger, Prescott πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 42 KB πŸ‘ 2 views

The CAG repeat tract at the autosomal dominant spinocerebellar ataxia type 1 (SCA1) locus was analyzed in SCA1 families and French-Acadian, African-American, Caucasian, Greenland Inuit, and Thai populations. The normal alleles had 9-37 repeats, whereas disease alleles contained 44-64 repeats. The CA

Spinocerebellar ataxia type 2 (SCA 2) in
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion
✍ Babovic-Vuksanovic, Dusica; Snow, Karen; Patterson, Marc C.; Michels, Virginia V πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 16 KB πŸ‘ 2 views

Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. The onset of symptoms is usually