<i>PLA2G6</i>-associated Dystonia-Parkinsonism: Case Report and Literature Review

by Siamak Karkheiran, Gholam Ali Shahidi, Ruth H. Walker, Coro Paisan-Ruiz
Published 2015-07-01

Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

by Hossein Darvish, Luis J. Azcona, Abbas Tafakhori, Mona Ahmadi, Azadeh Ahmadifard, Coro Paisán-Ruiz
Published 2017-06-01

Mutation Resulting in Sortilin Deficiency and p75 Upregulation in a Family With Essential Tremor

by Elena Sánchez, Alberto Bergareche, Catharine E. Krebs, Ana Gorostidi, Vladimir Makarov, Javier Ruiz-Martinez, Alejo Chorny, Adolfo Lopez de Munain, Jose Felix Marti-Masso, Coro Paisán-Ruiz
Published 2015-08-01

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

by Michael A Nalls, Javier Simon-Sanchez, J Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B Harris, Luigi Ferrucci, John Hardy, Andrew B Singleton
Published 2009-03-01