✦ LIBER ✦

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes

✍ Scribed by Shweta Singh; Subramaniam Ganesh

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 208 KB
Volume: 30
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20954

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Lafora disease in the Indian population:

Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin

✍ Shweta Singh; Parthasarathy Satishchandra; Susarla Krishna Shankar; Subramaniam 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 344 KB

## Communicated by Claude Feréc Lafora disease (LD) is a fatal form of teenage-onset autosomal recessive progressive myoclonus epilepsy. LD is more common among geographic isolates and in populations with a higher rate of consanguinity. Mutations in two genes, EPM2A encoding laforin phosphatase, a

Multiple endocrine neoplasia type 1 (MEN

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene

✍ Manuel C. Lemos; Rajesh V. Thakker 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 300 KB

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of tumors of the parathyroids, pancreas, and anterior pituitary. The MEN1 gene, which was identified in 1997, consists of 10 exons that encode a 610-amino acid protein referred to as menin. M