User profiles for M. A. Pericak-Vance

Margaret Pericak-Vance

Professor of Human Genetics, university of Miami
Verified email at med.miami.edu
Cited by 177196

Hypothesis: microtubule instability and paired helical filament formation in the Alzheimer disease brain are related to apolipoprotein E genotype

…, G Einstein, DE Schmechel, MA Pericak-Vance… - Experimental …, 1994 - Elsevier
PericakVance et al. also excluded this region in late-onset AD families but identified a … In
1991 Pericak-Vance et al. reported linkage/ association of late-onset AD families to a region of …

Multiple rare SAPAP3 missense variants in trichotillomania and OCD

…, KC Timpano, ML Cuccaro, MA Pericak-Vance… - Molecular …, 2009 - nature.com
Participants with higher psychopathy scores showed reduced activity specifically in the
amygdala during emotional moral decision-making (Figure 1, left). Furthermore, reduced …

Genetics and pathogenesis of multiple sclerosis

RL Zuvich, JL McCauley, MA Pericak-Vance… - Seminars in …, 2009 - Elsevier
Multiple sclerosis (MS) is an idiopathic autoimmune neurodegenerative disease. Like many
common diseases, MS has a genetic component; however, as with most complex diseases, …

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

…, C Smyth, NG Laing, E Soriano, MA PericakVance… - Nature, 1993 - nature.com
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the
cortex, brainstem and spinal cord 1,2 . Its cause is unknown and it is uniformly fatal, typically …

Complement factor H variant increases the risk of age-related macular degeneration

…, A Agarwal, EA Postel, MA Pericak-Vance - Science, 2005 - science.org
Age-related macular degeneration (AMD) is a leading cause of visual impairment and
blindness in the elderly whose etiology remains largely unknown. Previous studies identified …

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

…, HAR Da Silva, JL Haines, MA Pericak-Vance… - Nature, 1995 - nature.com
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic
linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive …

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

…, J Murrel, MK McCormick, MA Pericak-Vance… - Nature …, 1994 - nature.com
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized
by multisystemic vascular dysplasia and recurrent haemorrhage. Linkage for some …

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

…, Y Yoshinaga, JL Haines, MA Pericak-Vance… - Science, 2009 - science.org
Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent
of cases are inherited; most involve unidentified genes. We report here 13 mutations in …

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis

…, WA Kukull, R Mayeux, RH Myers, MA Pericak-Vance… - Jama, 1997 - jamanetwork.com
Objective. —To examine more closely the association between apolipoprotein E (APOE)
genotype and Alzheimer disease (AD) by age and sex in populations of various ethnic and …

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

…, GW Small, AD Roses, JL Haines, MA Pericak-Vance - Science, 1993 - science.org
The apolipoprotein E type 4 allele (APOE-ε4) is genetically associated with the common late
onset familial and sporadic forms of Alzheimer's disease (AD). Risk for AD increased from 20…