Works matching AU Heutink, Peter

Results: 116

Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1708, doi. 10.1002/humu.22161

By:

Mittag, Florian;
Büchel, Finja;
Saad, Mohamad;
Jahn, Andreas;
Schulte, Claudia;
Bochdanovits, Zoltan;
Simón-Sánchez, Javier;
Nalls, Mike A.;
Keller, Margaux;
Hernandez, Dena G.;
Gibbs, J. Raphael;
Lesage, Suzanne;
Brice, Alexis;
Heutink, Peter;
Martinez, Maria;
Wood, Nicholas W;
Hardy, John;
Singleton, Andrew B.;
Zell, Andreas;
Gasser, Thomas

Publication type:

Article

Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap–CEU populations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 802, doi. 10.1038/ejhg.2008.248

By:

Pardo, Luba;
Bochdanovits, Zoltán;
de Geus, Eco;
Hottenga, Jouke J.;
Sullivan, Patrick;
Posthuma, Danielle;
Penninx, Brenda W. J. H.;
Boomsma, Dorret;
Heutink, Peter

Publication type:

Article

Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1075, doi. 10.1038/ejhg.2008.57

By:

Gosso, M Florencia;
de Geus, Eco J C;
Polderman, Tinca J C;
Boomsma, Dorret I;
Heutink, Peter;
Posthuma, Danielle

Publication type:

Article

Empirical assessment of the validity of the ‘fundamental theorem of the HapMap’ in the light of ‘cryptic’ tagging of multiple susceptibility loci.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 4, p. 525, doi. 10.1038/sj.ejhg.5201984

By:

Bochdanovits, Zoltán;
Heutink, Peter;
van der Vaart, Aad

Publication type:

Article

Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 3, p. 335, doi. 10.1038/sj.ejhg.5201979

By:

Boomsma, Dorret I.;
Willemsen, Gonneke;
Sullivan, Patrick F.;
Heutink, Peter;
Meijer, Piet;
Sondervan, David;
Kluft, Cornelis;
Smit, Guus;
Nolen, Willem A.;
Zitman, Frans G.;
Smit, Johannes H.;
Hoogendijk, Witte J.;
Van Dyck, Richard;
De Geus, Eco J. C.;
Penninx, Brenda W. J. H.

Publication type:

Article

Progranulin mutations in Dutch familial frontotemporal lobar degeneration.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 3, p. 369, doi. 10.1038/sj.ejhg.5201772

By:

Bronner, Iraad F.;
Rizzu, Patrizia;
Seelaar, Harro;
van Mil, Saskia E.;
Anar, Burcu;
Azmani, Asma;
Kaat, Laura Donker;
Rosso, Sonia;
Heutink, Peter;
van Swieten, John C.

Publication type:

Article

Linkage disequilibrium in young genetically isolated Dutch population.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 527, doi. 10.1038/sj.ejhg.5201188

By:

Aulchenko, Yurii S.;
Heutink, Peter;
Mackay, Ian;
Bertoli-Avella, Aida M.;
Pullen, Jan;
Vaessen, Norbert;
Rademaker, Tessa AM;
Sandkuijl, Lodewijk A.;
Cardon, Lon;
Oostra, Ben;
van Duijn, Cornelia M.

Publication type:

Article

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 5, p. 409, doi. 10.1038/sj.ejhg.5200982

By:

Galjaard, Robert-Jan H;
Smits, Arie P T;
Tuerlings, Joep H A M;
Bais, Aagje G;
Avella, Aida M Bertoli;
Breedveld, Guido;
Graaff, Esther de;
Oostra, Ben A;
Heutink, Peter

Publication type:

Article

Postaxial polydactyly type A/B (PAP-A/B) in linked to chromosome 19p13.1-13.2 in a chinese kindred.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 3, p. 162, doi. 10.1038/sj.ejhg.5200790

By:

Hongshan Zhao;
Yong Tian;
Breedveld, Guido;
Shangzhi Huang;
Ying Zou;
Jue Y;
Jinghua Chai;
Hui Li;
Mingyue Li;
Oostra, Ben A.;
HY Lo, Wilson;
Heutink, Peter

Publication type:

Article

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 9, p. 653, doi. 10.1038/sj.ejhg.5200692

By:

Galjaard, Robert-Jan H;
Kostakoglu, Naci;
Hoogeboom, Jeannette J M;
Breedveld, Guido J;
van der Linde, Herma C;
Hovius, Steven ER;
Oostra, Ben A;
Sandkuijl, Lodewijk A;
Akarsu, A Nurten;
Heutink, Peter

Publication type:

Article

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Published in:

Nature Genetics, 2011, v. 43, n. 7, p. 699, doi. 10.1038/ng.859

By:

Höglinger, Günter U.;
Melhem, Nadine M.;
Dickson, Dennis W.;
Sleiman, Patrick M. A.;
Li-San Wang;
Klei, Lambertus;
Rademakers, Rosa;
de Silva, Rohan;
Litvan, Irene;
Riley, David E.;
van Swieten, John C.;
Heutink, Peter;
Wszolek, Zbigniew K.;
Uitti, Ryan J.;
Vandrovcova, Jana;
Hurtig, Howard I.;
Gross, Rachel G.;
Maetzler, Walter;
Goldwurm, Stefano;
Tolosa, Eduardo

Publication type:

Article

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Published in:

Nature Genetics, 2010, v. 42, n. 3, p. 234, doi. 10.1038/ng.536

By:

Van Deerlin, Vivianna M.;
Sleiman, Patrick M. A.;
Martinez-Lage, Maria;
Chen-Plotkin, Alice;
Li-San Wang;
Graff-Radford, Neill R.;
Dickson, Dennis W.;
Rademakers, Rosa;
Boeve, Bradley F.;
Grossman, Murray;
Arnold, Steven E.;
Mann, David M. A.;
Pickering-Brown, Stuart M.;
Seelaar, Harro;
Heutink, Peter;
van Swieten, John C.;
Murrell, Jill R.;
Ghetti, Bernardino;
Spina, Salvatore;
Grafman, Jordan

Publication type:

Article

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.

Published in:

Nature Genetics, 2006, v. 38, n. 5, p. 556, doi. 10.1038/ng1770

By:

Service, Susan;
DeYoung, Joseph;
Karayiorgou, Maria;
Roos, J. Louw;
Pretorious, Herman;
Bedoya, Gabriel;
Ospina, Jorge;
Ruiz-Linares, Andres;
Macedo, António;
Palha, Joana Almeida;
Heutink, Peter;
Aulchenko, Yurii;
Oostra, Ben;
van Duijn, Cornelia;
Jarvelin, Marjo-Riitta;
Varilo, Teppo;
Peddle, Lynette;
Rahman, Proton;
Piras, Giovanna;
Monne, Maria

Publication type:

Article

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

Published in:

Nature Genetics, 2001, v. 28, n. 3, p. 213, doi. 10.1038/90038

By:

Njajou, Omer T.;
Vaessen, Norbert;
Joosse, Marijke;
Berghuis, Bianca;
van Dongen, Jeroen W.F.;
Breuning, Martijn H.;
Snijders, Pieter J.L.M.;
Rutten, Wim P.F.;
Sandkuijl, Lodewijk A.;
Oostra, Ben A.;
van Duijn, Cornelia M.;
Heutink, Peter

Publication type:

Article

Catechol- O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease.

Published in:

Movement Disorders, 2012, v. 27, n. 1, p. 132, doi. 10.1002/mds.23805

By:

de Lau, Lonneke M.L.;
Verbaan, Dagmar;
Marinus, Johan;
Heutink, Peter;
van Hilten, Jacobus J.

Publication type:

Article

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.

Published in:

Movement Disorders, 2009, v. 24, n. 2, p. 196, doi. 10.1002/mds.22287

By:

Macedo, Maria G.;
Verbaan, Dagmar;
Fang, Yue;
van Rooden, Stephanie M.;
Visser, Martine;
Anar, Burcu;
Uras, Antonella;
Groen, Justus L.;
Rizzu, Patrizia;
van Hilten, Jacobus J.;
Heutink, Peter

Publication type:

Article

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.

Published in:

Movement Disorders, 2006, v. 21, n. 3, p. 396, doi. 10.1002/mds.20708

By:

Brusse, Esther;
de Koning, Inge;
Maat-Kievit, Anneke;
Oostra, Ben A.;
Heutink, Peter;
van Swieten, John C.

Publication type:

Article

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease.

Published in:

Movement Disorders, 2003, v. 18, n. 11, p. 1240, doi. 10.1002/mds.10534

By:

Aida M. Bertoli-Avella;
Jose L. Giroud-Benitez;
Vincenzo Bonifati;
Eduardo Alvarez-Gonzalez;
Luis Heredero-Baute;
Cornelia M. Van Duijn;
Peter Heutink

Publication type:

Article

Familial influence on parkinsonism in a rural area of Turkey (Kızılcaboluk-Denizli): A community-based case-control study.

Published in:

Movement Disorders, 2003, v. 18, n. 7, p. 799, doi. 10.1002/mds.10440

By:

Duzcan, Fusun;
Zencir, Mehmet;
Ozdemir, Fatma;
Cetin, G. Ozan;
Bagci, Huseyin;
Heutink, Peter;
Bonifati, Vincenzo;
Sahiner, Turker

Publication type:

Article

Clinical features and neuroimaging of PARK7-linked parkinsonism.

Published in:

2003

By:

Dekker, Marieke;
Bonifati, Vincenzo;
van Swieten, John;
Leenders, Nico;
Galjaard, Robert-Jan;
Snijders, Pieter;
Horstink, Marten;
Heutink, Peter;
Oostra, Ben;
van Duijn, Cornelia

Publication type:

journal article

CYP2D6 polymorphism in Parkinson's disease: The Rotterdam study.

Published in:

Movement Disorders, 2001, v. 16, n. 2, p. 290, doi. 10.1002/mds.1041

By:

Harhangi, B. Sanjay;
Oostra, Ben A.;
Heutink, Peter;
van Duijn, Cornelia M.;
Hofman, Albert;
Breteler, Monique M.B.

Publication type:

Article

The PCR Suite.

Published in:

Bioinformatics, 2004, v. 20, n. 4, p. 591, doi. 10.1093/bioinformatics/btg473

By:

Marijke J. van Baren;
Peter Heutink

Publication type:

Article

Direct and indirect regulation of β-glucocerebrosidase by the transcription factors USF2 and ONECUT2.

Published in:

NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00819-7

By:

Ging, Kathi;
Frick, Lukas;
Schlachetzki, Johannes;
Armani, Andrea;
Zhu, Yanping;
Gilormini, Pierre-André;
Dhingra, Ashutosh;
Böck, Desirée;
Marques, Ana;
Deen, Matthew;
Chen, Xi;
Serdiuk, Tetiana;
Trevisan, Chiara;
Sellitto, Stefano;
Pisano, Claudio;
Glass, Christopher K.;
Heutink, Peter;
Yin, Jiang-An;
Vocadlo, David J.;
Aguzzi, Adriano

Publication type:

Article

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia.

Published in:

Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01387-8

By:

Miedema, Suzanne S. M.;
Mol, Merel O.;
Koopmans, Frank T. W.;
Hondius, David C.;
van Nierop, Pim;
Menden, Kevin;
de Veij Mestdagh, Christina F.;
van Rooij, Jeroen;
Ganz, Andrea B.;
Paliukhovich, Iryna;
Melhem, Shamiram;
Li, Ka Wan;
Holstege, Henne;
Rizzu, Patrizia;
van Kesteren, Ronald E.;
van Swieten, John C.;
Heutink, Peter;
Smit, August B.

Publication type:

Article

Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson’s Disease.

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128651

By:

Dijkstra, Anke A.;
Ingrassia, Angela;
de Menezes, Renee X.;
van Kesteren, Ronald E.;
Rozemuller, Annemieke J. M.;
Heutink, Peter;
van de Berg, Wilma D. J.

Publication type:

Article

Trehalose Improves Human Fibroblast Deficits in a New CHIP-Mutation Related Ataxia.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106931

By:

Casarejos, Maria Jose;
Perucho, Juan;
López-Sendón, Jose Luis;
García de Yébenes, Justo;
Bettencourt, Conceição;
Gómez, Ana;
Ruiz, Carolina;
Heutink, Peter;
Rizzu, Patrizia;
Mena, Maria Angeles

Publication type:

Article

Resequencing Three Candidate Genes for Major Depressive Disorder in a Dutch Cohort.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079921

By:

Verbeek, Eva C.;
Bevova, Marianna R.;
Bochdanovits, Zoltán;
Rizzu, Patrizia;
Bakker, Ingrid M. C.;
Uithuisje, Tiny;
De Geus, Eco J.;
Smit, Johannes H.;
Penninx, Brenda W.;
Boomsma, Dorret I.;
Hoogendijk, Witte J. G.;
Heutink, Peter

Publication type:

Article

Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus.

Published in:

PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070724

By:

Trabzuni, Daniah;
Ryten, Mina;
Emmett, Warren;
Ramasamy, Adaikalavan;
Lackner, Karl J.;
Zeller, Tanja;
Walker, Robert;
Smith, Colin;
Lewis, Patrick A.;
Mamais, Adamantios;
de Silva, Rohan;
Vandrovcova, Jana;
Hernandez, Dena;
Nalls, Michael A.;
Sharma, Manu;
Garnier, Sophie;
Lesage, Suzanne;
Simon-Sanchez, Javier;
Gasser, Thomas;
Heutink, Peter

Publication type:

Article

FADS2 Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0068000

By:

Rizzi, Thais S.;
van der Sluis, Sophie;
Derom, Catherine;
Thiery, Evert;
van Kesteren, Ronald E.;
Jacobs, Nele;
Van Gestel, Sofie;
Vlietinck, Robert;
Verhage, Matthijs;
Heutink, Peter;
Posthuma, Danielle

Publication type:

Article

A Fine-Mapping Study of 7 Top Scoring Genes from a GWAS for Major Depressive Disorder.

Published in:

PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037384

By:

Verbeek, Eva C.;
Bakker, Ingrid M. C.;
Bevova, Marianna R.;
Bochdanovits, Zoltán;
Rizzu, Patrizia;
Sondervan, David;
Willemsen, Gonneke;
De Geus, Eco J.;
Smit, Johannes H.;
Penninx, Brenda W.;
Boomsma, Dorret I.;
Hoogendijk, Witte J. G.;
Heutink, Peter

Publication type:

Article

Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease.

Published in:

PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0028787

By:

Simón-Sánchez, Javier;
Kilarski, Laura L.;
Nalls, Michael A.;
Martinez, Maria;
Schulte, Claudia;
Holmans, Peter;
Gasser, Thomas;
Hardy, John;
Singleton, Andrew B.;
Wood, Nicholas W.;
Brice, Alexis;
Heutink, Peter;
Williams, Nigel;
Morris, Huw R.

Publication type:

Article

Variation at GRN 3'-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population.

Published in:

PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007494

By:

Simón-Sánchez, Javier;
Seelaar, Harro;
Bochdanovits, Zoltán;
Deeg, Dorly J. H.;
van Swieten, John C.;
Heutink, Peter

Publication type:

Article

Comprehensive mRNA Expression Profiling Distinguishes Tauopathies and Identifies Shared Molecular Pathways.

Published in:

PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006826

By:

Bronner, Iraad F.;
Bochdanovits, Zoltán;
Rizzu, Patrizia;
Kamphorst, Wouter;
Ravid, Rivka;
van Swieten, John C.;
Heutink, Peter

Publication type:

Article

Genome-Wide Prediction of Functional Gene-Gene Interactions Inferred from Patterns of Genetic Differentiation in Mice and Men.

Published in:

PLoS ONE, 2008, v. 3, n. 2, p. 1, doi. 10.1371/journal.pone.0001593

By:

Bochdanovits, Zoltán;
Sondervan, David;
Perillous, Sophie;
van Beijsterveldt, Toos;
Boomsma, Dorret;
Heutink, Peter

Publication type:

Article

A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands.

Published in:

2003

By:

Aulchenko, Yurii S.;
Vaessen, Norbert;
Heutink, Peter;
Pullen, Jan;
Snijders, Pieter J. L. M.;
Hofman, Albert;
Sandkuijl, Lodewijk A.;
Houwing-Duistermaat, Jeanine J.;
Edwards, Mark;
Bennett, Simon;
Oostra, Ben A.;
van Duijn, Cornelia M.

Publication type:

journal article

A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands.

Published in:

2002

By:

Vaessen, Norbert;
Heutink, Peter;
Houwing-Duistermaat, Jeanine J.;
Snijders, Pieter J.L.M.;
Rdemaker, Tessa;
Testers, Leon;
Batstra, Manou R.;
Sandkuijl, Lodewijk A.;
van Duijn, Cornelia M.;
Oostra, Ben A.;
Rademaker, Tessa

Publication type:

journal article

A Polymorphism in the Gene for IGF-I.

Published in:

Diabetes, 2001, v. 50, n. 3, p. 637, doi. 10.2337/diabetes.50.3.637

By:

Vaessen, Norbert;
Heutink, Peter;
Janssen, Joop A.;
Witteman, Jacqueline C. M.;
Testers, Leon;
Hofman, Albert;
Lamberts, Steven W. J.;
Oostra, Ben A.;
Pols, Huibert A.P.

Publication type:

Article

Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interference.

Published in:

PLoS Pathogens, 2021, v. 17, n. 10, p. 1, doi. 10.1371/journal.ppat.1010013

By:

Heinzer, Daniel;
Avar, Merve;
Pease, Daniel Patrick;
Dhingra, Ashutosh;
Yin, Jiang-An;
Schaper, Elke;
Doğançay, Berre;
Emmenegger, Marc;
Spinelli, Anna;
Maggi, Kevin;
Chincisan, Andra;
Mead, Simon;
Hornemann, Simone;
Heutink, Peter;
Aguzzi, Adriano

Publication type:

Article

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Published in:

2015

By:

Bettencourt, Conceição;
Yébenes, Justo;
López-Sendón, José;
Shomroni, Orr;
Zhang, Xingqian;
Qian, Shu-Bing;
Bakker, Ingrid;
Heetveld, Sasja;
Ros, Raquel;
Quintáns, Beatriz;
Sobrido, María-Jesús;
Bevova, Marianna;
Jain, Shushant;
Bugiani, Marianna;
Heutink, Peter;
Rizzu, Patrizia

Publication type:

Letter

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 1, p. 100, doi. 10.1093/hmg/ddu422

By:

Neves-Carvalho, Andreia;
Logarinho, Elsa;
Freitas, Ana;
Duarte-Silva, Sara;
do Carmo Costa, Maria;
Silva-Fernandes, Anabela;
Martins, Margarida;
Serra, Sofia Cravino;
Lopes, André T.;
Paulson, Henry L.;
Heutink, Peter;
Relvas, João B.;
Maciel, Patrícia

Publication type:

Article

Genetic comorbidities in Parkinson's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 3, p. 831

By:

Nalls, Mike A.;
Saad, Mohamad;
Noyce, Alastair J.;
Keller, Margaux F.;
Schrag, Anette;
Bestwick, Jonathan P.;
Traynor, Bryan J.;
Gibbs, J. Raphael;
Hernandez, Dena G.;
Cookson, Mark R.;
Morris, Huw R.;
Williams, Nigel;
Gasser, Thomas;
Heutink, Peter;
Wood, Nick;
Hardy, John;
Martinez, Maria;
Singleton, Andrew B.

Publication type:

Article

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.

Published in:

2017

By:

Robak, Laurie A.;
Jansen, Iris E.;
van Rooij, Jeroen;
Uitterlinden, André G.;
Kraaij, Robert;
Jankovic, Joseph;
Heutink, Peter;
Shulman, Joshua M.;
International Parkinson’s Disease Genomics Consortium (IPDGC);
IPDGC Consortium members

Publication type:

journal article

Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.

Published in:

2017

By:

Mishra, Aniket;
Ferrari, Raffaele;
Heutink, Peter;
Hardy, John;
Pijnenburg, Yolande;
Posthuma, Danielle;
International FTD-Genomics Consortium

Publication type:

journal article

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Published in:

2013

By:

Kevelam, Sietske H;
Bugiani, Marianna;
Salomons, Gajja S;
Feigenbaum, Annette;
Blaser, Susan;
Prasad, Chitra;
Häberle, Johannes;
Baric, Ivo;
Bakker, Ingrid M C;
Postma, Nienke L;
Kanhai, Warsha A;
Wolf, Nicole I;
Abbink, Truus E M;
Waisfisz, Quinten;
Heutink, Peter;
van der Knaap, Marjo S

Publication type:

Journal Article

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1534, doi. 10.1093/brain/awt054

By:

Kevelam, Sietske H.;
Bugiani, Marianna;
Salomons, Gajja S.;
Feigenbaum, Annette;
Blaser, Susan;
Prasad, Chitra;
Häberle, Johannes;
Barić, Ivo;
Bakker, Ingrid M. C.;
Postma, Nienke L.;
Kanhai, Warsha A.;
Wolf, Nicole I.;
Abbink, Truus E. M.;
Waisfisz, Quinten;
Heutink, Peter;
van der Knaap, Marjo S.

Publication type:

Article

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 3, p. 723

By:

Simón-Sánchez, Javier;
Dopper, Elise G. P.;
Cohn-Hokke, Petra E.;
Hukema, Renate K.;
Nicolaou, Nayia;
Seelaar, Harro;
de Graaf, J. Roos A.;
de Koning, Inge;
van Schoor, Natasja M.;
Deeg, Dorly J. H.;
Smits, Marion;
Raaphorst, Joost;
van den Berg, Leonard H.;
Schelhaas, Helenius J.;
De Die-Smulders, Christine E. M.;
Majoor-Krakauer, Danielle;
Rozemuller, Annemieke J. M.;
Willemsen, Rob;
Pijnenburg, Yolande A. L.;
Heutink, Peter

Publication type:

Article

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population‐based study.

Published in:

Brain: A Journal of Neurology, 2003, v. 126, n. 9, p. 2016, doi. 10.1093/brain/awg204

By:

Sonia M. Rosso;
Laura Donker Kaat;
Timo Baks;
Marijke Joosse;
Inge de Koning;
Yolande Pijnenburg;
Daniëlle de Jong;
Dennis Dooijes;
Wouter Kamphorst;
Rivka Ravid;
Martinus F. Niermeijer;
Frans Verheij;
H. P. Kremer;
Philip Scheltens;
Cornelia M. van Duijn;
Peter Heutink;
John C. van Swieten

Publication type:

Article

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.

Published in:

2016

By:

Liu, Ganqiang;
Boot, Brendon;
Locascio, Joseph J.;
Jansen, Iris E.;
Winder‐Rhodes, Sophie;
Eberly, Shirley;
Elbaz, Alexis;
Brice, Alexis;
Ravina, Bernard;
van Hilten, Jacobus J.;
Cormier‐Dequaire, Florence;
Corvol, Jean‐Christophe;
Barker, Roger A.;
Heutink, Peter;
Marinus, Johan;
Williams‐Gray, Caroline H.;
Scherzer, Clemens R.;
Scherzer, C.;
Hyman, B.T.;
Ivinson, A.J.

Publication type:

journal article

Is the MC1R variant p.R160W associated with Parkinson's?

Published in:

2016

By:

Lubbe, Steven J.;
Escott‐Price, Valentina;
Brice, Alexis;
Gasser, Thomas;
Hardy, John;
Heutink, Peter;
Sharma, Manu;
Wood, Nicholas W.;
Nalls, Mike;
Singleton, Andrew B.;
Williams, Nigel M.;
Morris, Huw R.;
Escott-Price, Valentina;
International Parkinson's Disease Genomics Consortium

Publication type:

Letter

Polygenic risk of Parkinson disease is correlated with disease age at onset.

Published in:

Annals of Neurology, 2015, v. 77, n. 4, p. 582, doi. 10.1002/ana.24335

By:

Escott‐Price, Valentina;
Nalls, Mike A.;
Morris, Huw R.;
Lubbe, Steven;
Brice, Alexis;
Gasser, Thomas;
Heutink, Peter;
Wood, Nicholas W.;
Hardy, John;
Singleton, Andrew B.;
Williams, Nigel M.

Publication type:

Article