✦ LIBER ✦

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts

✍ Scribed by Michael C. Kruer; Reema Paudel; Wendy Wagoner; Lynn Sanford; Eleanna Kara; Allison Gregory; Tom Foltynie; Andrew Lees; Kailash Bhatia; John Hardy; Susan J. Hayflick; Henry Houlden

Book ID: 116774262
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 275 KB
Volume: 523
Category: Article
ISSN: 0304-3940
DOI: 10.1016/j.neulet.2012.06.036

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

PANK2 gene analysis confirms genetic het

PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease

✍ M.M. Matarin; A.B. Singleton; H. Houlden 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 159 KB

α-Synuclein accumulation in a case of ne

α-Synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies

✍ Manuela Neumann; Silke Adler; Oliver Schlüter; Elisabeth Kremmer; Reiner Benecke 📂 Article 📅 2000 🏛 Springer-Verlag 🌐 English ⚖ 269 KB

Mutational analysis of GIGYF2, ATP13A2 a

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease

✍ Adriana Vaz dos Santos; Cristiane Pinheiro Pestana; Karen Rafaella da Silva Dini 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 144 KB

Mutation analysis of Parkin, PINK1, DJ-1

Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism

✍ Ji-Feng Guo; Bin Xiao; Bing Liao; Xue-Wei Zhang; Li-Luo Nie; Yu-Hu Zhang; Lu She 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB 👁 1 views

## Abstract Autosomal recessive early‐onset Parkinsonism (AREP) has been associated with mutations in the __Parkin__, __PINK1__, __DJ‐1__, and __ATP13A2__ genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and