Ontology highlight
ABSTRACT:
SUBMITTER: Xi Z
PROVIDER: S-EPMC4005900 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Xi Zhengrui Z Zinman Lorne L Grinberg Yakov Y Moreno Danielle D Sato Christine C Bilbao Juan M JM Ghani Mahdi M Hernández Isabel I Ruiz Agustín A Boada Mercè M Morón Francisco J FJ Lang Anthony E AE Marras Connie C Bruni Amalia A Colao Rosanna R Maletta Raffaele G RG Puccio Gianfranco G Rainero Innocenzo I Pinessi Lorenzo L Galimberti Daniela D Morrison Karen E KE Moorby Catriona C Stockton Joanne D JD Masellis Mario M Black Sandra E SE Hazrati Lili-Naz LN Liang Yan Y van Haersma de With Jan J Fornazzari Luis L Villagra Roque R Rojas-Garcia Ricardo R Clarimón Jordi J Mayeux Richard R Robertson Janice J St George-Hyslop Peter P Rogaeva Ekaterina E
Archives of neurology 20121201 12
OBJECTIVE To estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), Alzheimer disease (AD), and Parkinson disease (PD). DESIGN The number of repeats was estimated by a 2-step genotyping strategy. For expansion carriers, we sequenced the repeat flanking regions and obtained APOE genotypes and MAPT H1/H2 haplotypes. SETTING Hospitals specializing in neurodegenerative disorders. SUBJECTS We analyzed 520 patients with ...[more]