K. Nuytemans

发表

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

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.

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.

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.

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.

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.

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.

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.

Progranulin variability has no major role in Parkinson disease genetic etiology

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

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

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

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

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.

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.

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.

Identification of TMEM230 mutations in familial Parkinson’s disease

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

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

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

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.

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson diseaseSYMBOL

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

Identification of novel genes for age‐at‐onset of Alzheimer's disease by combining quantitative and survival trait analyses

E. Martin, A. Naj, Yi Ju Li, 2023, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Database for Parkinson Disease Mutations and Rare Variants

Jeffery M. Vance, Karen Nuytemans, J. Vance, 2015 .

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 .

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

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

Variants in chondroitin sulfate metabolism genes in thrombotic storm.

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

Explainable machine learning aggregates polygenic risk scores and electronic health records for Alzheimer’s disease prediction

D. Scharre, K. Nuytemans, E. R. Martin, 2023, Scientific Reports.

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.

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

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

Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants

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

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.

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.

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.

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.

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.

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.

Identification of TMEM230 mutations in familial Parkinson’s disease (response to comments)

M. Pericak-Vance, J. Jankovic, B. Ghetti, 2017, bioRxiv.

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.

Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells

D. Dykxhoorn, D. Mash, W. Scott, 2017, Neuroscience Letters.

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

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

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.