Publications by authors named "Hillary Lipe"

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Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials.

JAMA Neurol· January 2016

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Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Ying-Zhang Chen, Mark M Matsushita, Peggy Robertson, Mark Rieder, Santhosh Girirajan, Hillary Lipe

Arch Neurol· May 2012

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A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
Dong-Hui Chen, Wendy H Raskind, William W Parson, Joshua A Sonnen, Tiffany Vu, Hillary Lipe

J Neurol Sci· September 2010

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Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.
Wendy H Raskind, Mark Matsushita, Beate Peter, Jeffrey Biberston, John Wolff, Hillary Lipe

Am J Med Genet B Neuropsychiatr Genet· June 2009

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Late onset Huntington Disease: clinical and genetic characteristics of 34 cases.
Hillary Lipe, Thomas Bird

J Neurol Sci· January 2009

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Geriatric neurogenetics: oxymoron or reality?
Thomas D Bird, Hillary P Lipe, Ellen J Steinbart

Arch Neurol· April 2008

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Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease).
Suman Jayadev, Sara Michelson, Hillary Lipe, Thomas Bird

J Neurol Sci· December 2006

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Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.
Julie A Hodapp, Gregory T Carter, Hillary P Lipe, Sara J Michelson, George H Kraft

Arch Neurol· January 2006

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Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.
Dong-Hui Chen, Mark Matsushita, Shirley Rainier, Brandon Meaney, Lisa Tisch, Hillary Lipe

Arch Neurol· April 2005

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Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.
Corrine O Smith, Hillary P Lipe, Thomas D Bird

Arch Neurol· June 2004

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Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
Dong-Hui Chen, Zoran Brkanac, Christophe L M J Verlinde, Xiao-Jian Tan, Laura Bylenok, Hillary Lipe

Am J Hum Genet· April 2003

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A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.
Zoran Brkanac, Laura Bylenok, Magali Fernandez, Mark Matsushita, Hillary Lipe

Arch Neurol· August 2002

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Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.
Dong-Hui Chen, Hillary P Lipe, Zhen Qin, Thomas D Bird

J Neurol Sci· April 2002

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