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DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.
Published in:
2003
By:
- Bonifati, V.;
- Rizzu, P.;
- Squitieri, F.;
- Krieger, E.;
- Vanacore, N.;
- van Swieten, J. C.;
- Brice, A.;
- van Duijn, C. M.;
- Oostra, B.;
- Meco, G.;
- Heutink, P.
Publication type:
journal article
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.
Published in:
2002
By:
- Bonifati, V.;
- Dekker, M.C.J.;
- Vanacore, N.;
- Fabbrini, G.;
- Squitieri, F.;
- Marconi, R.;
- Antonini, A.;
- Brustenghi, P.;
- Dalla Libera, A.;
- De Mari, M.;
- Stocchi, F.;
- Montagna, P.;
- Gallai, V.;
- Rizzu, P.;
- van Swieten, J.C.;
- Oostra, B.;
- van Duijn, C.M.;
- Meco, G.;
- Heutink, P.;
- Italian Parkinson Genetics Network
Publication type:
journal article
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 154, doi. 10.1111/cge.12133
By:
- Bettencourt, C.;
- López‐Sendón, J.L.;
- García‐Caldentey, J.;
- Rizzu, P.;
- Bakker, I.M.C.;
- Shomroni, O.;
- Quintáns, B.;
- Dávila, J.R.;
- Bevova, M.R.;
- Sobrido, M.‐J.;
- Heutink, P.;
- de Yébenes, J.G.
Publication type:
Article
Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.
Published in:
European Journal of Neurology, 2009, v. 16, n. 3, p. 297, doi. 10.1111/j.1468-1331.2008.02513.x
By:
- Ludolph, A. C.;
- Kassubek, J.;
- Landwehrmeyer, B. G.;
- Mandelkow, E.;
- Mandelkow, E.-M.;
- Burn, D. J.;
- Caparros-Lefebvre, D.;
- Frey, K. A.;
- de Yebenes, J. G.;
- Gasser, T.;
- Heutink, P.;
- Höglinger, G.;
- Jamrozik, Z.;
- Jellinger, K. A.;
- Kazantsev, A.;
- Kretzschmar, H.;
- Lang, A. E.;
- Litvan, I.;
- Lucas, J. J.;
- McGeer, P. L.
Publication type:
Article
Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus.
Published in:
Molecular Psychiatry, 2015, v. 20, n. 12, p. 1588, doi. 10.1038/mp.2015.6
By:
- Desikan, R S;
- Schork, A J;
- Wang, Y;
- Witoelar, A;
- Sharma, M;
- McEvoy, L K;
- Holland, D;
- Brewer, J B;
- Chen, C-H;
- Thompson, W K;
- Harold, D;
- Williams, J;
- Owen, M J;
- O'Donovan, M C;
- Pericak-Vance, M A;
- Mayeux, R;
- Haines, J L;
- Farrer, L A;
- Schellenberg, G D;
- Heutink, P
Publication type:
Article
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
Published in:
Molecular Psychiatry, 2011, v. 16, n. 1, p. 2, doi. 10.1038/mp.2009.107
By:
- Y. Liu;
- Blackwood, D. H.;
- Caesar, S.;
- de Geus, E. J. C.;
- Farmer, A.;
- Ferreira, M. A. R.;
- Ferrier, I. N.;
- Fraser, C.;
- Gordon-Smith, K.;
- Green, E. K.;
- Grozeva, D.;
- Gurling, H. M.;
- Hamshere, M. L.;
- Heutink, P.;
- Holmans, P A;
- Hoogendijk, W. J.;
- Hottenga, J. J.;
- Jones, L.;
- Jones, I. R.;
- Kirov, G.
Publication type:
Article
Joint reanalysis of 29 correlated SNPs supports the role of PCLO/Piccolo as a causal risk factor for major depressive disorder.
Published in:
2009
By:
- Bochdanovits, Z.;
- Verhage, M.;
- Smit, A. B.;
- de Geus, E. J. C.;
- Posthuma, D.;
- Boomsma, D. I.;
- Penninx, B. W. J. H.;
- Hoogendijk, W. J.;
- Heutink, P.
Publication type:
Letter
Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo.
Published in:
Molecular Psychiatry, 2009, v. 14, n. 4, p. 359, doi. 10.1038/mp.2008.125
By:
- Sullivan, P. F.;
- de Geus, E. J. C.;
- Willemsen, G.;
- James, M. R.;
- Smit, J. H.;
- Zandbelt, T.;
- Arolt, V.;
- Baune, B. T.;
- Blackwood, D.;
- Cichon, S.;
- Coventry, W. L.;
- Domschke, K.;
- Farmer, A.;
- Fava, M.;
- Gordon, S. D.;
- He, Q.;
- Heath, A. C.;
- Heutink, P.;
- Holsboer, F.;
- Hoogendijk, W. J.
Publication type:
Article
Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25.
Published in:
Genes, Brain & Behavior, 2012, v. 11, n. 7, p. 767, doi. 10.1111/j.1601-183X.2012.00819.x
By:
- Rizzi, T. S.;
- Beunders, G.;
- Rizzu, P.;
- Sistermans, E.;
- Twisk, J. W. R.;
- Mechelen, W.;
- Deijen, J. B.;
- Meijers-Heijboer, H.;
- Verhage, M.;
- Heutink, P.;
- Posthuma, D.
Publication type:
Article
Common variants underlying cognitive ability: further evidence for association between the SNAP-25 gene and cognition using a family-based study in two independent Dutch cohorts.
Published in:
Genes, Brain & Behavior, 2008, v. 7, n. 3, p. 355, doi. 10.1111/j.1601-183X.2007.00359.x
By:
- Gosso, M. F.;
- de Geus, E. J. C.;
- Polderman, T. J. C.;
- Boomsma, D. I.;
- Heutink, P.;
- Posthuma, D.
Publication type:
Article
Genetic analysis of psychiatric disorders in humans.
Published in:
Genes, Brain & Behavior, 2006, v. 5, p. 25, doi. 10.1111/j.1601-183X.2006.00223.x
By:
- Van Belzen, M. J.;
- Heutink, P.
Publication type:
Article
Association between the CHRM2 gene and intelligence in a sample of 304 Dutch families.
Published in:
Genes, Brain & Behavior, 2006, v. 5, n. 8, p. 577, doi. 10.1111/j.1601-183X.2006.00211.x
By:
- Gosso, M. F.;
- Van Belzen, M.;
- De Geus, E. J. C.;
- Polderman, J. C.;
- Heutink, P.;
- Boomsma, D. I.;
- Posthuma, D.
Publication type:
Article
Analysis of variation in the melanocortin-4 receptor gene ( mc4r) in golden retriever dogs.
Published in:
Animal Genetics, 2010, v. 41, n. 5, p. 557, doi. 10.1111/j.1365-2052.2010.02049.x
By:
- van den Berg, L.;
- van den Berg, S. M.;
- Martens, E. E. C. P.;
- Hazewinkel, H. A. W.;
- Dijkshoorn, N. A.;
- Delemarre-van de Waal, H. A.;
- Heutink, P.;
- Leegwater, P. A. J.;
- Heuven, H. C. M.
Publication type:
Article
A clinical-genetic study of Parkinson’s disease in a genetically isolated community.
Published in:
Journal of Neurology, 2003, v. 250, n. 9, p. 1056, doi. 10.1007/s00415-003-0151-z
By:
- Dekker, M. C. J.;
- van Swieten, J. C.;
- Houwing-Duistermaat, J. J.;
- Snijders, P. J. L. M.;
- Boeren, E.;
- Hofman, A.;
- Breteler, M. M. B.;
- Heutink, P.;
- Oostra, B. A.;
- van Duijn, C. M.
Publication type:
Article
Genetics of Gilles de la tourette syndrome.
Published in:
Movement Disorders, 1992, v. 7, n. S1, p. 3, doi. 10.1002/mds.870070504
By:
- Kidd, K. K.;
- Pakstis, A. J.;
- Heutink, P.;
- Pauls, D. L.;
- Kurlan, R.;
- Weber, J.;
- Wilkie, P.;
- van de Wetering, B. J. M.;
- Oostra, B. A.
Publication type:
Article
Loss of function of DJ-1 triggered by Parkinson's disease-associated mutation is due to proteolytic resistance to caspase-6.
Published in:
Cell Death & Differentiation, 2010, v. 17, n. 1, p. 158, doi. 10.1038/cdd.2009.116
By:
- Giaime, E.;
- Sunyach, C.;
- Druon, C.;
- Scarzello, S.;
- Robert, G.;
- Grosso, S.;
- Auberger, P.;
- Goldberg, M. S.;
- Shen, J.;
- Heutink, P.;
- Pouysségur, J.;
- Pagès, G.;
- Checler, F.;
- Alves da Costa, C.
Publication type:
Article
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Published in:
2012
By:
- Simón-Sánchez J;
- Dopper EG;
- Cohn-Hokke PE;
- Hukema RK;
- Nicolaou N;
- Seelaar H;
- de Graaf JR;
- de Koning I;
- van Schoor NM;
- Deeg DJ;
- Smits M;
- Raaphorst J;
- van den Berg LH;
- Schelhaas HJ;
- De Die-Smulders CE;
- Majoor-Krakauer D;
- Rozemuller AJ;
- Willemsen R;
- Pijnenburg YA;
- Heutink P
Publication type:
journal article
Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology.
Published in:
Brain: A Journal of Neurology, 2005, v. 128, n. 11, p. 2645, doi. 10.1093/brain/awh591
By:
- I. F. Bronner;
- B. C. ter Meulen;
- A. Azmani;
- L. A. Severijnen;
- R. Willemsen;
- W. Kamphorst;
- R. Ravid;
- P. Heutink;
- J. C. van Swieten
Publication type:
Article
Familial clustering and genetic risk for dementia in a genetically isolated Dutch population.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 7, p. 1641, doi. 10.1093/brain/awh179
By:
- K. Sleegers;
- G. Roks;
- J. Theuns;
- Y. S. Aulchenko;
- R. Rademakers;
- M. Cruts;
- W. A. van Gool;
- C. Van Broeckhoven;
- P. Heutink;
- B. A. Oostra;
- J. C. van Swieten;
- C. M. van Duijn
Publication type:
Article
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.
Published in:
2001
By:
- Rosso, S M;
- Kamphorst, W;
- de Graaf, B;
- Willemsen, R;
- Ravid, R;
- Niermeijer, M F;
- Spillantini, M G;
- Heutink, P;
- van Swieten, J C
Publication type:
journal article
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.
Published in:
2006
By:
- van der Knaap MS;
- Smit LM;
- Barkhof F;
- Pijnenburg YA;
- Zweegman S;
- Niessen HW;
- Imhof S;
- Heutink P
Publication type:
Journal Article
Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.
Published in:
2004
By:
- Prudlo J;
- Alber B;
- Kalscheuer VM;
- Roemer K;
- Martin T;
- Dullinger J;
- Sittinger H;
- Niemann S;
- Heutink P;
- Ludolph AC;
- Ropers HH;
- Zang K;
- Meyer T
Publication type:
Journal Article
Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.
Published in:
Journal of Neurology, 2014, v. 261, n. 11, p. 2085, doi. 10.1007/s00415-014-7456-y
By:
- Cohn-Hokke, P.;
- Wong, T.;
- Rizzu, P.;
- Breedveld, G.;
- van der Flier, W.;
- Scheltens, P.;
- Baas, F.;
- Heutink, P.;
- Meijers-Heijboer, E.;
- van Swieten, J.;
- Pijnenburg, Y.
Publication type:
Article
Unraveling the pathogenesis of Parkinson's disease -- the contribution of monogenic forms.
Published in:
Cellular & Molecular Life Sciences, 2004, v. 61, n. 14, p. 1729
By:
- V. Bonifati;
- B. A. Oostra;
- P. Heutink
Publication type:
Article
A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction.
Published in:
2001
By:
- Vaessen, N;
- Heutink, P;
- Janssen, J A;
- Witteman, J C;
- Testers, L;
- Hofman, A;
- Lamberts, S W;
- Oostra, B A;
- Pols, H A;
- van Duijn, C M
Publication type:
journal article
Genetic and clinical analysis of a large Dutch Gilles de la Tourette family.
Published in:
Molecular Psychiatry, 2006, v. 11, n. 10, p. 954, doi. 10.1038/sj.mp.4001877
By:
- Verkerk, A. J. M. H.;
- Cath, D. C.;
- van der Linde, H. C.;
- Both, J.;
- Heutink, P.;
- Breedveld, G.;
- Aulchenko, Y. S.;
- Oostra, B. A.
Publication type:
Article
The SNAP-25 gene is associated with cognitive ability: evidence from a family-based study in two independent Dutch cohorts.
Published in:
Molecular Psychiatry, 2006, v. 11, n. 9, p. 878, doi. 10.1038/sj.mp.4001868
By:
- Gosso, M. F.;
- de Geus, E. J. C.;
- van Belzen, M. J.;
- Polderman, T. J. C.;
- Heutink, P.;
- Boomsma, D. I.;
- Posthuma, D.
Publication type:
Article
Untangling tau-related dementia.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 6, p. 979, doi. 10.1093/hmg/9.6.979
By:
- Heutink, P.
Publication type:
Article
Phenotypic variation in hereditary frontotemporal dementia with tau mutations.
Published in:
1999
By:
- Van Swieten, J. C.;
- Stevens, M.;
- Rosso, S. M.;
- Rizzu, P.;
- Joosse, M.;
- De Koning, I.;
- Kamphorst, W.;
- Ravid, R.;
- Spillantini, M. G.;
- Niermeijer, M. F.;
- Heutink, P.;
- Niermeijer
Publication type:
journal article
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three dutch families.
Published in:
Annals of Neurology, 1997, v. 41, n. 2, p. 150, doi. 10.1002/ana.410410205
By:
- Heutink, P.;
- Stevens, M.;
- Rizzu, P.;
- Bakker, E.;
- Kros, J. M.;
- Tibben, A.;
- Niermeijer, M. F.;
- Van Duijn, C. M.;
- Oostra, B. A.;
- Van Swieten, J. C.
Publication type:
Article
Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease.
Published in:
2012
By:
- de Lau LM;
- Verbaan D;
- Marinus J;
- Heutink P;
- van Hilten JJ
Publication type:
Journal Article
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe(Communicated by Richard G.H. Cotton).
Published in:
Human Mutation, 2003, v. 22, n. 5, p. 409, doi. 10.1002/humu.10269
By:
- R. Rademakers;
- B. Dermaut;
- K. Peeters;
- M. Cruts;
- P. Heutink;
- A. Goate;
- C. Van Broeckhoven
Publication type:
Article
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0191-0
By:
- Kelmemi, W.;
- Teeuw, M. E.;
- Bochdanovits, Z.;
- Ouburg, S.;
- Jonker, M. A.;
- Alkuraya, F.;
- Hashem, M.;
- Kayserili, H.;
- van Haeringen, A.;
- Sheridan, E.;
- Masri, A.;
- Cobben, J. M.;
- Rizzu, P.;
- Kostense, P. J.;
- Dommering, C. J.;
- Henneman, L.;
- Bouhamed-Chaabouni, H.;
- Heutink, P.;
- ten Kate, L. P.;
- Cornel, M. C.
Publication type:
Article
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 50, doi. 10.1186/s12881-015-0191-0
By:
- Kelmemi, W.;
- Teeuw, M. E.;
- Bochdanovits, Z.;
- Ouburg, S.;
- Jonker, M. A.;
- Alkuraya, F.;
- Hashem, M.;
- Kayserili, H.;
- van Haeringen, A.;
- Sheridan, E.;
- Masri, A.;
- Cobben, J. M.;
- Rizzu, P.;
- Kostense, P. J.;
- Dommering, C. J.;
- Henneman, L.;
- Bouhamed-Chaabouni, H.;
- Heutink, P.;
- ten Kate, L. P.;
- Cornel, M. C.
Publication type:
Article

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