Karen Nuytemans

发表

M. Pericak-Vance, D. Dykxhoorn, C. Geula, 2023, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Juan I. Young, M. Pericak-Vance, D. Dykxhoorn, 2022, bioRxiv.

Proof-of-Principle Study of Inflammasome Signaling Proteins as Diagnostic Biomarkers of the Inflammatory Response in Parkinson’s Disease

J. P. de Rivero Vaccari, C. Luca, K. Nuytemans, 2023, Pharmaceuticals.

Increased APOE ε4 expression is associated with the difference in Alzheimer's disease risk from diverse ancestral backgrounds

Juan I. Young, J. Haines, M. Pericak-Vance, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

J. Buxbaum, M. Pericak-Vance, G. Schellenberg, 2015, Neurology.

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa‐responsive dystonia

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2012, Movement disorders : official journal of the Movement Disorder Society.

Gaps in clinical research in frontotemporal dementia: A call for diversity and disparities–focused research

Y. Pijnenburg, A. Slachevsky, J. Yokoyama, 2023, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Eden R Martin, Arpit Mehta, Stephan Züchner, 2013, Neurology.

Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease

C. van Broeckhoven, S. Engelborghs, P. D. De Deyn, 2008, Human mutation.

Identification of TMEM230 mutations in familial Parkinson’s disease

M. Pericak-Vance, J. Jankovic, B. Ghetti, 2016, Nature Genetics.

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update

Marc Cruts, Karen Nuytemans, Christine Van Broeckhoven, 2010, Human mutation.

Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients

P. Deyn, C. Broeckhoven, S. Engelborghs, 2008, European Journal of Human Genetics.

Identifying differential regulatory control of APOE ɛ4 on African versus European haplotypes as potential therapeutic targets

Christopher D. Brown, Derek J Van Booven, Juan I. Young, 2022, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Converging evidence for differential regulatory control of APOEε4 on African versus European haplotypes

Christopher D. Brown, Derek J Van Booven, Juan I. Young, 2021, bioRxiv.

Comprehensive genetic and mutation analysis of familial dementia with Lewy bodies linked to 2q35-q36.

C. van Broeckhoven, S. Engelborghs, P. D. De Deyn, 2010, Journal of Alzheimer's disease : JAD.

C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

Juan I. Young, J. Gilbert, J. Haines, 2013, Annals of human genetics.

Progranulin variability has no major role in Parkinson disease genetic etiology

C. Broeckhoven, K. Sleegers, S. Engelborghs, 2008, Neurology.

A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer’s Disease in African Ancestry

Juan I. Young, M. Cuccaro, J. Haines, 2022, PLoS genetics.

Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease

James E. Tomkins, B. Alipanahi, J. Trojanowski, 2021, Annals of neurology.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

James E. Tomkins, B. Alipanahi, J. Trojanowski, 2020, medRxiv.

Novel Variants in LRRK2 and GBA Identified in Latino Parkinson Disease Cohort Enriched for Caribbean Origin

M. Pericak-Vance, C. Singer, C. Luca, 2020, Frontiers in Neurology.

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2007, Archives of neurology.

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

M. Pericak-Vance, J. Vance, Stijn Van de Sompele, 2021, Molecular vision.

Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.

M. Pericak-Vance, D. Dykxhoorn, J. Vance, 2021, Stem Cell Research.

Increased APOEε4 expression is associated with reactive A1 astrocytes and the difference in Alzheimer Disease risk from diverse ancestral backgrounds

Juan I. Young, J. Haines, M. Pericak-Vance, 2020, bioRxiv.

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson diseaseSYMBOL

M. Farrer, J. Kachergus, E. Tolosa, 2008, Neurology.

GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population

P. Deyn, C. Broeckhoven, S. Engelborghs, 2011, Neurobiology of Aging.

Whole Exome Sequencing

Karen Nuytemans, J. Vance, Jeffery M Vance, 2020, Definitions.

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.

C. van Broeckhoven, J. Theuns, P. Cras, 2011, Parkinsonism & related disorders.

Absence of C9ORF72 expanded or intermediate repeats in autopsy‐confirmed Parkinson's disease

T. Montine, J. Trojanowski, D. Mash, 2014, Movement disorders : official journal of the Movement Disorder Society.

Absence of C 9 ORF 72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease

J. Trojanowski, M. Frosch, D. Dickson, 2022 .

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Chelsea X Alvarado, D. Hernandez, M. Nalls, 2023, The Lancet Neurology.

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

C. van Broeckhoven, S. Engelborghs, P. D. De Deyn, 2009, Human mutation.

High‐Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2

W. Scott, E. Martin, J. Vance, 2013, Human mutation.

Genetic analyses in multiplex families confirms chromosome 5q35 as a risk locus for Alzheimer’s Disease in individuals of African Ancestry

M. Cuccaro, M. Pericak-Vance, C. Reitz, 2023, Neurobiology of Aging.

Transcriptomic analysis of synovial extracellular RNA following knee trauma: A pilot study

M. Pericak-Vance, T. Best, J. Vance, 2018, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Gene expression and chromatin accessibility comparison in iPSC-derived microglia in African, European, and Amerindian genomes in Alzheimer’s patients and controls

K. Hamilton-Nelson, Derek J. Van Booven, A. Griswold, 2024, bioRxiv.

Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants

W. Scott, E. Martin, J. Vance, 2016, Neurology: Genetics.

Motivations for Participation in Parkinson Disease Genetic Research Among Hispanics versus Non-Hispanics

M. Cuccaro, J. Vance, C. Singer, 2019, Front. Genet..

Variants in chondroitin sulfate metabolism genes in thrombotic storm.

M. Pericak-Vance, J. Vance, T. Ortel, 2018, Thrombosis research.

Gaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research.

R. Akinyemi, Y. Pijnenburg, K. Rascovsky, 2024, Alzheimer's & dementia : the journal of the Alzheimer's Association.