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Guido Breedveld

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Yu Sun; Bart P van de Warrenburg; Rob M Verdijk; Frans W Verheijen; Ben Oostra; Gijs W E Santen; Rowida Almomani; Emmelien Aten; Guido J Breedveld; Martijn H Breuning; Esther Brusse; Johan T den Dunnen; Jorrit I Hoff; Marjolein Kriek; Dirk J Lefeber; Monique Losekoot; Anneke J A Maat-Kievit
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease).
Ekaterina Yonova-Doing; Masharip Atadzhanov; Guido J Breedveld; Paul Kelly; Sheila T S Musonda; Ben A Oostra; Marialuisa Quadri; Nyambura Shawa; Erik J Simons; Vincenzo Bonifati
Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.
Marialuisa Quadri; Fabrizio Rasi; Antioco Sanna; Lies-Anne Severijnen; Bart P C van de Warrenburg; Rob Willemsen; Tianna Zhao; Carla Battisti; Guido J Breedveld; Giovanni Cossu; Cathérine Delnooz; Lara Di Toro Mammarella; Antonio Federico; Peng Lu; Andrea Mignarri; Lucia Monti; Ben A Oostra; Francesca Punzo; Vincenzo Bonifati
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

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All Publications

2013: Yu Sun; Bart P van de Warrenburg; Rob M Verdijk; Frans W Verheijen; Ben Oostra; Gijs W E Santen; Rowida Almomani; Emmelien Aten; Guido J Breedveld; Martijn H Breuning; Esther Brusse; Johan T den Dunnen; Jorrit I Hoff; Marjolein Kriek; Dirk J Lefeber; Monique Losekoot; Anneke J A Maat-Kievit
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease).
Human mutation 2013;34(5):706-13.
2012: Ekaterina Yonova-Doing; Masharip Atadzhanov; Guido J Breedveld; Paul Kelly; Sheila T S Musonda; Ben A Oostra; Marialuisa Quadri; Nyambura Shawa; Erik J Simons; Vincenzo Bonifati
Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.
Parkinsonism & related disorders 2012;18(5):567-71.
2012: Marialuisa Quadri; Fabrizio Rasi; Antioco Sanna; Lies-Anne Severijnen; Bart P C van de Warrenburg; Rob Willemsen; Tianna Zhao; Carla Battisti; Guido J Breedveld; Giovanni Cossu; Cathérine Delnooz; Lara Di Toro Mammarella; Antonio Federico; Peng Lu; Andrea Mignarri; Lucia Monti; Ben A Oostra; Francesca Punzo; Vincenzo Bonifati
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
American journal of human genetics 2012;90(3):467-77.
2011: Chiara Criscuolo; Vincenzo Bonifati; Guido J Breedveld; Anna De Rosa; Alessandro Filla; Anna Guacci; Ben A Oostra; Silvio Peluso; Erik J Simons; Giampiero Volpe; Giuseppe De Michele
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
Movement disorders : official journal of the Movement Disorder Society 2011;26(9):1733-6.
2011: Tianna Zhao; Esther de Graaff; Guido J Breedveld; Agnese Loda; Lies-Anne Severijnen; Cokkie H Wouters; Frans W Verheijen; Marieke C J Dekker; Pasquale Montagna; Rob Willemsen; Ben A Oostra; Vincenzo Bonifati
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).
PloS one 2011;6(2):e16983.
2010: Guido J Breedveld; Giovanni Fabbrini; Ben A Oostra; Alfredo Berardelli; Vincenzo Bonifati
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.
Neurogenetics 2010;11(4):417-23.
2009: A Di Fonzo; M C J Dekker; Pasquale Montagna; Agostino Baruzzi; E H Yonova; L Correia Guedes; A Szczerbinska; T Zhao; L O M Dubbel-Hulsman; C H Wouters; Esther de Graaff; W J G Oyen; Erik J Simons; Guido J Breedveld; Ben A Oostra; Martin Horstink; Vincenzo Bonifati
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.
Neurology 2009;72(3):240-5.
2008: H Seelaar; Wouter Kamphorst; Sonia M Rosso; Asma Azmani; R Masdjedi; Inge de Koning; JA Maat-Kievit; B Anar; L Donker Kaat; Guido J Breedveld; Dennis Dooijes; J M Rozemuller; Iraad F Bronner; Patrizia Rizzu; John C van Swieten
Distinct genetic forms of frontotemporal dementia.
Neurology 2008;71(16):1220-6.
2007: Giovanni Fabbrini; Massimo Pasquini; Cinzia Aurilia; Isabella Berardelli; Guido J Breedveld; Ben A Oostra; Vincenzo Bonifati; Alfredo Berardelli
A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.
Movement disorders : official journal of the Movement Disorder Society 2007;22(15):2229-34.
2007: Anne Grünewald; Guido J Breedveld; Katja Lohmann-Hedrich; Christan F Rohé; Inke R König; Johann Hagenah; Nicola Vanacore; Giuseppe Meco; Angelo Antonini; Stefano Goldwurm; Suzanne Lesage; Alexandra Dürr; Ferdinand Binkofski; Hartwig R Siebner; Alexander Münchau; Alexis Brice; Ben A Oostra; Christine Klein; Vincenzo Bonifati
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Neurogenetics 2007;8(2):103-9.
2006: A J M H Verkerk; D C Cath; Herma C van der Linde; J Both; Peter Heutink; Guido J Breedveld; Yurii Aulchenko; Ben A Oostra
Genetic and clinical analysis of a large Dutch Gilles de la Tourette family.
Molecular psychiatry 2006;11(10):954-64.
2006: Alessio Di Fonzo; Yah-Huei Wu Chou; Chin-Song Lu; Marina van Doeselaar; Erik J Simons; Christan F Rohé; Hsiu-Chen Chang; Rou-Shayn Chen; Yi-Hsin Weng; Nicola Vanacore; Guido J Breedveld; Ben A Oostra; Vincenzo Bonifati
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.
Neurogenetics 2006;7(3):133-8.
2006: Guido J Breedveld; I F M de Coo; Maarten H Lequin; W F M Arts; Peter Heutink; Douglas B Gould; Simon W M John; Ben A Oostra; Grazia M S Mancini
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
Journal of medical genetics 2006;43(6):490-5.
2006: Hsin F Chien; Christan F Rohé; Maria D L Costa; Guido J Breedveld; Ben A Oostra; Egberto R Barbosa; Vincenzo Bonifati
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.
Neurogenetics 2006;7(1):13-9.
2005: Chin-Song Lu; Erik J Simons; Yah-Huei Wu Chou; Alessio Di Fonzo; Hsiu-Chen Chang; Rou-Shayn Chen; Yi-Hsin Weng; Christan F Rohé; Guido J Breedveld; Nobutaka Hattori; Thomas Gasser; Ben A Oostra; Vincenzo Bonifati
The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.
Parkinsonism & related disorders 2005;11(8):521-2.
2005: Stefano Goldwurm; Alessio Di Fonzo; Erik J Simons; Christan F Rohé; Michela Zini; Margherita Canesi; Silvana Tesei; Anna Zecchinelli; Angelo Antonini; Claudio Mariani; Nicoletta Meucci; Giorgio Sacilotto; Francesca Sironi; Giuliana Salani; J Ferreira; H F Chien; Edito Fabrizio; N Vanacore; A Dalla Libera; Fabrizio Stocchi; Cosimo Diroma; P Lamberti; Cristina Sampaio; Giuseppe Meco; E Barbosa; Aida M Bertoli Avella; Guido J Breedveld; Ben A Oostra; Gianni Pezzoli; Vincenzo Bonifati
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.
Journal of medical genetics 2005;42(11):e65.
2005: Alice S Brooks; Aida M Bertoli Avella; Grzegorz Burzynski; Guido J Breedveld; Jan Osinga; Ludolf G Boven; Jane A Hurst; Grazia M S Mancini; Maarten H Lequin; René F M de Coo; Ivana Matera; Esther de Graaff; Carel Meijers; Patrick J Willems; Dick Tibboel; Ben A Oostra; Robert M W Hofstra
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
American journal of human genetics 2005;77(1):120-6.
2005: Douglas B Gould; F Campbell Phalan; Guido J Breedveld; Saskia E van Mil; Richard S Smith; John C Schimenti; Umberto Aguglia; Marjo S van der Knaap; Peter Heutink; Simon W M John
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
Science (New York, N.Y.) 2005;308(5725):1167-71.
2005: Alessio Di Fonzo; Christan F Rohé; Joaquim Ferreira; Hsin F Chien; Laura Vacca; Fabrizio Stocchi; Leonor Guedes; Edito Fabrizio; Mario Manfredi; Nicola Vanacore; Stefano Goldwurm; Guido J Breedveld; Cristina Sampaio; Giuseppe Meco; Egberto Barbosa; Ben A Oostra; Vincenzo Bonifati
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Lancet 2005;365(9457):412-5.
2005: Michèl A A P Willemsen; Guido J Breedveld; Siep Wouda; Barto J Otten; Jan L Yntema; Martin Lammens; Bert B A de Vries
Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
European journal of pediatrics 2005;164(1):28-30.
2004: Guido J Breedveld; B van Wetten; G D te Raa; Esther Brusse; John C van Swieten; Ben A Oostra; JA Maat-Kievit
A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.
Journal of medical genetics 2004;41(11):858-66.
2004: Christan F Rohé; Pasquale Montagna; Guido J Breedveld; Pietro Cortelli; Ben A Oostra; Vincenzo Bonifati
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.
Annals of neurology 2004;56(3):427-31.
2004: Umberto Aguglia; Antonio Gambardella; Guido J Breedveld; RL Oliveri; Emilio Le Piane; Demetrio Messina; Aldo Quattrone; Peter Heutink
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.
Neurology 2004;62(9):1613-5.
2003: Esther van Herpen; Sonia M Rosso; Lies-Anne Serverijnen; Hirotaka Yoshida; Guido J Breedveld; Raoul van de Graaf; Wouter Kamphorst; Rivka Ravid; Rob Willemsen; Dennis Dooijes; Danielle Majoor-Krakauer; Johan M Kros; R Anthony Crowther; Michel Goedert; Peter Heutink; John C van Swieten
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.
Annals of neurology 2003;54(5):573-81.
2003: R J H Galjaard; Arie P T Smits; Joep H A M Tuerlings; Aagje G Bais; Aida M Bertoli Avella; Guido J Breedveld; Esther de Graaff; Ben A Oostra; Peter Heutink
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
European journal of human genetics : EJHG 2003;11(5):409-15.
2003: Vincenzo Bonifati; Patrizia Rizzu; Marijke J van Baren; Onno Schaap; Guido J Breedveld; Elmar Krieger; Marieke C J Dekker; Ferdinando Squitieri; Pablo Ibanez; Marijke Joosse; Jeroen W F van Dongen; Nicola Vanacore; John C van Swieten; Alexis Brice; Giuseppe Meco; C.M. Duijn; Ben A Oostra; Peter Heutink
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Science (New York, N.Y.) 2003;299(5604):256-9.
2002: Bert B A de Vries; Guido J Breedveld; Wout Deelen; Martijn H Breuning; Martinus F Niermeijer; Peter Heutink
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.
American journal of medical genetics 2002;111(4):443-5.
2002: Guido J Breedveld; Alan K Percy; Marcy E MacDonald; Bert B A de Vries; C Yapijakis; Leon S Dure; E F Ippel; Lodewijk A Sandkuijl; Peter Heutink; W F M Arts
Clinical and genetic heterogeneity in benign hereditary chorea.
Neurology 2002;59(4):579-84.
2002: Laura A Lettice; Taizo Horikoshi; Simon J H Heaney; Marijke J van Baren; Herma C van der Linde; Guido J Breedveld; Marijke Joosse; Nurten Akarsu; Ben A Oostra; Naoto Endo; Minoru Shibata; Mikio Suzuki; Eiichi Takahashi; Toshikatsu Shinka; Yutaka Nakahori; Dai Ayusawa; Kazuhiko Nakabayashi; Stephen W Scherer; Peter Heutink; Robert E Hill; Sumihare Noji
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(11):7548-53.
2002: Guido J Breedveld; Jeroen W F van Dongen; Cesare Danesino; Andrea Guala; Alan K Percy; Leon S Dure; Peter Harper; Lazarus P Lazarou; Herma C van der Linde; Marijke Joosse; Annette Grüters; Marcy E MacDonald; Bert B A de Vries; W F M Arts; Ben A Oostra; Heiko Krude; Peter Heutink
Mutations in TITF-1 are associated with benign hereditary chorea.
Human molecular genetics 2002;11(8):971-9.
2002: Marijke J van Baren; Herma C van der Linde; Guido J Breedveld; Willy M Baarends; Patrizia Rizzu; Esther de Graaff; Ben A Oostra; Peter Heutink
A double RING-H2 domain in RNF32, a gene expressed during sperm formation.
Biochemical and biophysical research communications 2002;292(1):58-65.
2002: Vincenzo Bonifati; Guido J Breedveld; Ferdinando Squitieri; Nicola Vanacore; Pierluigi Brustenghi; Biswadjiet S Harhangi; Pasquale Montagna; Milena Cannella; Giovanni Fabbrini; Patrizia Rizzu; C.M. Duijn; Ben A Oostra; Giuseppe Meco; Peter Heutink
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.
Annals of neurology 2002;51(2):253-6.
2001: R J H Galjaard; N Kostakoglu; Jeannette Hoogeboom; Guido J Breedveld; Herma C van der Linde; Steven E R Hovius; Ben A Oostra; Lodewijk A Sandkuijl; A N Akarsu; Peter Heutink
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
European journal of human genetics : EJHG 2001;9(9):653-8.
2001: C.M. Duijn; Marieke C J Dekker; Vincenzo Bonifati; R J H Galjaard; Jeanine J Houwing-Duistermaat; Pieter J L M Snijders; Leon Testers; Guido J Breedveld; Martin Horstink; Lodewijk A Sandkuijl; John C van Swieten; Ben A Oostra; Peter Heutink
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.
American journal of human genetics 2001;69(3):629-34.
2001: Joost P H Drenth; W H Finley; Guido J Breedveld; Leon Testers; J J Michiels; G Guillet; Alain Taieb; R L Kirby; Peter Heutink
The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.
American journal of human genetics 2001;68(5):1277-82.
2001: HC Heus; A J M Luijsterburg; Marijke J van Baren; Guido J Breedveld; Marijke Joosse; Ingeborg M Nieuwenhuizen; Christl Vermeij-Keers; Ben A Oostra; Peter Heutink
Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction.
Mammalian genome : official journal of the International Mammalian Genome Society 2001;12(1):77-9.
2000: Bert B A de Vries; W F M Arts; Guido J Breedveld; Jeannette Hoogeboom; Martinus F Niermeijer; Peter Heutink
Benign hereditary chorea of early onset maps to chromosome 14q.
American journal of human genetics 2000;66(1):136-42.
1999: HC Heus; A Hing; Marijke J van Baren; Marijke Joosse; Guido J Breedveld; J C Wang; A Burgess; H Donnis-Keller; C Berglund; J Zguricas; S W Scherer; J M Rommens; Ben A Oostra; Peter Heutink
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
Genomics 1999;57(3):342-51.
1999: J Zguricas; HC Heus; E Morales-Peralta; Guido J Breedveld; B Kuyt; E F Mumcu; W Bakker; N Akarsu; S P Kay; Steven E R Hovius; L Heredero-Baute; Ben A Oostra; Peter Heutink
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.
Journal of medical genetics 1999;36(1):32-40.