H
Hillary Lipe
Researcher at University of Washington
Publications - 42
Citations - 2140
Hillary Lipe is an academic researcher from University of Washington. The author has contributed to research in topics: Spinocerebellar ataxia & Age of onset. The author has an hindex of 28, co-authored 41 publications receiving 2032 citations. Previous affiliations of Hillary Lipe include Veterans Health Administration & University of Washington Medical Center.
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Journal ArticleDOI
Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia
Dong Hui Chen,Zoran Brkanac,Christophe L. M. J. Verlinde,Xiao Jian Tan,Laura Bylenok,David Nochlin,Mark Matsushita,Hillary Lipe,John Wolff,John Wolff,Magali Fernandez,Patrick J. Cimino,Thomas D. Bird,Wendy H. Raskind,Wendy H. Raskind +14 more
TL;DR: A nonepisodic autosomal dominant spinocerebellar ataxia not caused by a nucleotide repeat expansion is reported that is, to the authors' knowledge, the first such SCA and suggests that there may be a common pathway for PKC gamma-related and polyglutamine-related neurodegeneration.
Journal ArticleDOI
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
Valerie A. Street,Craig L. Bennett,Jeff Goldy,Andrew J. Shirk,Kleopas A. Kleopa,Bruce L. Tempel,Hillary Lipe,Steven S. Scherer,Thomas D. Bird,Phillip F. Chance +9 more
TL;DR: Mutations in LITAF may account for a significant proportion of CMT1 patients with previously unknown molecular diagnosis and may define a new mechanism of peripheral nerve perturbation leading to demyelinating neuropathy.
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Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A.
William D. Graf,Phillip F. Chance,M. William Lensch,Lilly J. Eng,Hillary Lipe,Thomas D. Bird +5 more
TL;DR: A general predisposition for vincristine‐related neuropathy has been observed in persons with a family history of hereditary neuropathies.
Journal ArticleDOI
Autosomal dominant familial dyskinesia and facial myokymia: Single exome sequencing identifies a mutation in adenylyl cyclase 5
Ying Zhang Chen,Mark Matsushita,Peggy D. Robertson,Mark J. Rieder,Santhosh Girirajan,Francesca Antonacci,Hillary Lipe,Evan E. Eichler,Evan E. Eichler,Deborah A. Nickerson,Thomas D. Bird,Thomas D. Bird,Wendy H. Raskind,Wendy H. Raskind +13 more
TL;DR: The power of a single exome sequence combined with linkage information to identify causative genes for rare autosomal dominant mendelian diseases is demonstrated and FDFM likely results from a missense mutation in ADCY5.
Journal Article
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I)
Phillip F. Chance,Thomas D. Bird,Peter O'Connell,Hillary Lipe,Jean Marc Lalouel,Mark Leppert +5 more
TL;DR: DNA segregation patterns of DNA markers from the pericentromeric regions of chromosomes 1 and 17 were studied in seven pedigrees segregating an autosomal dominant gene for Charcot-Marie-Tooth neuropathy type I and implicate the existence of a third autosomal locus, in addition to a locu on chromosome 17, and a probable locus on chromosome 1.