𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genotyping and prenatal diagnosis of a large spinocerebellar ataxia pedigree in northeastern China

✍ Scribed by DONG-HUA CAO; XIAO-LI LIU; GUANG-BIN QIU

Book ID
107586251
Publisher
Indian Academy of Sciences
Year
2011
Tongue
English
Weight
734 KB
Volume
90
Category
Article
ISSN
0022-1333

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Prenatal diagnosis of Machado-Joseph dis
Prenatal diagnosis of Machado-Joseph disease/spinocerebellar ataxia type 3 in Taiwan: Early detection of expanded ataxin-3
✍ Hui-Fang Tsai; Chin-San Liu; Gin-Den Chen; Mei-Ling Lin; Chuan Li; Yi-Yun Chen; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 142 KB

## Abstract Machado‐Joseph disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a translated CAG repeat expansion. Here, we present the first prenatal diagnosis of MJD in Taiwan in a woman whose husba

Spinocerebellar ataxia type 10: Frequenc
Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients
✍ HΓ©lio A.G. Teive; Renato P. Munhoz; Salmo Raskin; Walter O. Arruda; Luciano de P πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 958 KB

## Abstract Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and e

Spinocerebellar ataxia: Variable age of
Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred
✍ Dr. Huda Y. Zoghbi; Marilyn S. Pollack; Leslie A. Lyons; Robert E. Ferrell; Step πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 517 KB

We studied a seven-generation kindred with autosomal dominant spinocerebellar ataxia (SCA) to assess linkage relationships to multiple human leukocyte antigen (HLA) loci on the short arm of chromosome 6. Age at onset, clinical features, and course of the disease are described. Although the mean age