Showing results (1-10 of 10) with videos related to
Sort By:
Pageof 1
Handbook of Clinical Neurology|August 11, 2011
Spinocerebellar ataxia type 12Elizabeth O'Hearn, Susan E Holmes, Russell L MargolisActa Neurologica Taiwanica|April 20, 2005
Huntington's disease like-2: review and updateRussell L Margolis, Dobrila D Rudnicki, Susan E HolmesMovement Disorders : Official Journal of the Movement Disorder Society|June 16, 2004
Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutationAnthony P Nicholas, Elizabeth O'Hearn, Susan E Holmes, et al.Annals of Neurology|March 28, 2007
Huntington's disease--like 2 is associated with CUG repeat-containing RNA fociDobrila D Rudnicki, Susan E Holmes, Mark W Lin, et al.The Journal of Molecular Diagnostics : JMD|April 21, 2004
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assayClaudia Cagnoli, Chiara Michielotto, Tohru Matsuura, et al.Annals of Neurology|February 28, 2012
Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesisAna I Seixas, Susan E Holmes, Hiroshi Takeshima, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 5, 2015
Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12Elizabeth E O'Hearn, Hyon S Hwang, Susan E Holmes, et al.Human Mutation|August 21, 2010
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxiasClaudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, et al.Psychiatric Genetics|August 13, 2009
Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populationsHeather A Bruce, Nancy Sachs, Dobrila D Rudnicki, et al.Annals of Neurology|October 7, 2004
Huntington's Disease-like 2 (HDL2) in North America and JapanRussell L Margolis, Susan E Holmes, Adam Rosenblatt, et al.Pageof 1