User profiles for M. A. Pericak-Vance
Margaret Pericak-VanceProfessor 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 …
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 …
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, …
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 Pericak–Vance… - 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 …
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
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 …
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 …
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 …
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 …
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
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 …
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…
onset familial and sporadic forms of Alzheimer's disease (AD). Risk for AD increased from 20…