𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism

✍ Scribed by Norman Kock; Birgitt Müller; Peter Vieregge; Peter P. Pramstaller; Karen Marder; Giovanni Abbruzzese; Paolo Martinelli; Anthony E. Lang; Helfried Jacobs; Johann Hagenah; Juliette Harris; Helen Meija-Santana; Stanley Fahn; Katja Hedrich; Martin Kann; Ulrike Gehlken; Biljana Culjkovic; Eberhard Schwinger; Zbigniew K. Wszolek; Christine Zühlke; Christine Klein

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
43 KB
Volume
52
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Lack of mutations in spinocerebellar ata
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism
✍ Chin-Hsien Lin; Wuh-Liang Hwu; Shu-Chuan Chiang; Chun-Hwei Tai; Ruey-Meei Wu 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB 👁 1 views

## Abstract Recent reports suggest that CAG triplet expansions of spinocerebellar ataxia type 2 and 3 (__SCA2__ and __SCA3__) genes are the cause of typical levodopa‐responsive Parkinson's disease (PD) in familial cases, several of which were ethnic Chinese. To investigate the role of __SCA2__ and

Mutation analysis of the BRCA1 and BRCA2
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease
✍ Kathleen Claes; Eva Machackova; Michel De Vos; Geert Mortier; Anne De Paepe; Lud 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 1 views

Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within thi