檢索結果 - Guido J. Breedveld

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  1. 1
    Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

    Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly 由 Guido J. Breedveld

    出版 2005
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  2. 2
    Mutations in TITF-1 are associated with benign hereditary chorea

    Mutations in TITF-1 are associated with benign hereditary chorea 由 Guido J. Breedveld

    出版 2002
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  3. 3
    Localization and kinetics of pyruvate-metabolizing enzymes in relation to aerobic alcoholic fermentation in Saccharomyces cerevisiae CBS 8066 and Candida utilis CBS 621

    Localization and kinetics of pyruvate-metabolizing enzymes in relation to aerobic alcoholic fermentation in Saccharomyces cerevisiae CBS 8066 and Candida utilis CBS 621 由 Hendrik Van Urk, Dick Schipper, Guido J. Breedveld, Paul R. Mak, W. A. Scheffers, Johannes P. van Dijken

    出版 1989
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  4. 4
    Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family

    Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family 由 Simone Olgiati, Astrid Thomas, Marialuisa Quadri, Guido J. Breedveld, Josja Graafland, Hubertus Eussen, Hannie Douben, Annelies de Klein, Marco Onofrj, Vincenzo Bonifati

    出版 2015
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  5. 5
    The Primary Erythermalgia–Susceptibility Gene Is Located on Chromosome 2q31-32

    The Primary Erythermalgia–Susceptibility Gene Is Located on Chromosome 2q31-32 由 Joost P.H. Drenth, Wayne H. Finley, Guido J. Breedveld, Leon Testers, Jan Michiels, G. Guillet, Alain Taı̈eb, R. Lee Kirby, Peter Heutink

    出版 2001
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  6. 6
    Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

    Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability 由 Lucio Santoro, Guido J. Breedveld, Fiore Manganelli, Rosa Iodice, Chiara Pisciotta, Maria Nolano, Francesca Punzo, Mario Quarantelli, Sabina Pappatà, Alessio Di Fonzo, Ben A. Oostra, Vincenzo Bonifati

    出版 2010
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  7. 7
    Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

    Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) 由 Tianna Zhao, Esther de Graaff, Guido J. Breedveld, Agnese Loda, Lies-Anne Severijnen, Carine Wouters, Frans W. Verheijen, Marieke C. J. Dekker, Pasquale Montagna, Rob Willemsen, Ben A. Oostra, Vincenzo Bonifati

    出版 2011
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  8. 8
    The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q

    The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q 由 Peter Heutink, Julia Zguricas, Linda van Oosterhout, Guido J. Breedveld, Leon Testers, Lodewijk A. Sandkuijl, Pieter J.L.M. Snijders, Jean Weissenbach, Dick Lindhout, Steven E.R. Hovius, Ben A. Oostra

    出版 1994
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  9. 9
    Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies

    Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies 由 Tim E. Moors, Silvia Paciotti, Angela Ingrassia, Marialuisa Quadri, Guido J. Breedveld, Anna Tasegian, Davide Chiasserini, Paolo Eusebi, Gonzalo Durán-Pacheco, Thomas Kremer, Paolo Calabresi, Vincenzo Bonifati, Lucilla Parnetti, Tommaso Beccari, Wilma D.J. van de Berg

    出版 2018
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  10. 10
    PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36

    PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36 由 Cornelia M. van Duijn, Marieke Dekker, Vincenzo Bonifati, Robert‐Jan H. Galjaard, Jeanine J. Houwing‐Duistermaat, Pieter J.L.M. Snijders, Leon Testers, Guido J. Breedveld, M.W.I.M. Horstink, L. Sandkuijl, John C. van Swieten, Ben A. Oostra, Peter Heutink

    出版 2001
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  11. 11
    Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

    Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease 由 Marialuisa Quadri, Antonio Federico, Tianna Zhao, Guido J. Breedveld, Carla Battisti, Cathérine C.S. Delnooz, Lies-Anne Severijnen, Lara Di Toro Mammarella, Andrea Mignarri, Lucia Monti, Antioco Sanna, Peng Lü, Francesca Punzo, Giovanni Cossu, Rob Willemsen, Fabrizio Rasi, Ben A. Oostra, Bart P. van de Warrenburg, Vincenzo Bonifati

    出版 2012
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  12. 12
    Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

    Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems 由 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, I.F.M. de Coo, Ivana Matera, Esther de Graaff, Carel Meijers, Patrick J. Willems, Dick Tibboel, Ben A. Oostra, Robert M.W. Hofstra

    出版 2005
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  13. 13
    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... 由 Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit

    出版 2013
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  14. 14
    Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly

    Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly 由 Laura A. Lettice, T. 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

    出版 2002
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  15. 15
    PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

    PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology 由 Tsz Hang Wong, Wang Zheng Chiu, Guido J. Breedveld, Ka Wan Li, Annemieke J.M.H. Verkerk, David Hondius, Renate K. Hukema, Harro Seelaar, Petra Frick, Lies‐Anne Severijnen, Gert Jan Lammers, Joyce H.G. Lebbink, Sjoerd G. van Duinen, Wouter Kamphorst, Annemieke J.M. Rozemüller, E. Bert Bakker, Manuela Neumann, Rob Willemsen, Vincenzo Bonifati, August B. Smit, John C. van Swieten

    出版 2014
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  16. 16
    The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor

    The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor 由 Stefano Goldwurm, Alessio Di Fonzo, Erik Simons, C F Rohé, Michele Zini, Margherita Canesi, Silvana Tesei, Anna Zecchinelli, Angelo Antonini, Claudio Mariani, N. Meucci, Giorgio Sacilotto, Francesca Sironi, Giuliana Salani, Joaquim J. Ferreira, Hsin Fen Chien, Fabrizio Ecca, N. Vanacore, A. Dalla Libera, Fabrizio Stocchi, Cosimo Diroma, Paolo Lamberti, Cristina Andrade Sampaio, G. Meco, Egberto Reis Barbosa, Aida M. Bertoli‐Avella, Guido J. Breedveld, Ben A. Oostra, Gianni Pezzoli, Vincenzo Bonifati

    出版 2005
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  17. 17
    Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

    Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease 由 Alessio Di Fonzo, Cristina Tassorelli, Michele De Mari, Hsin Fen Chien, Joaquim J. Ferreira, Christan F. Rohé, Giulio Riboldazzi, Angelo Antonini, G Albani, Alessandro Mauro, Roberto Marconi, Giovanni Abbruzzese, Leonardo Lopiano, E. Fincati, Marco Guidi, P. Marini, Fabrizio Stocchi, Marco Onofrj, Vincenzo Toni, Michèle Tinazzi, Giovanni Fabbrini, Paolo Lamberti, Nicola Vanacore, G. Meco, Petra Leitner, Ryan J. Uitti, Zbigniew K. Wszołek, Thomas Gasser, Erik Simons, Guido J. Breedveld, Stefano Goldwurm, Gianni Pezzoli, Cristina Sampaio, Egberto Reis Barbosa, E. Martignoni, Ben A. Oostra, Vincenzo Bonifati

    出版 2005
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  18. 18
    <scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia

    <scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia 由 Demy J.S. Kuipers, Wim Mandemakers, Chin‐Song Lu, Simone Olgiati, Guido J. Breedveld, Christina Fevga, Vera Tadić, Miryam Carecchio, Bradley Osterman, Lena Sagi‐Dain, Yah‐Huei Wu‐Chou, Chiung C. Chen, Hsiu‐Chen Chang, Shey‐Lin Wu, Tu‐Hsueh Yeh, Yi‐Hsin Weng, Antonio E. Elia, Celeste Panteghini, Nicolas Marotta, Martje G. Pauly, Andrea A. Kühn, Jens Volkmann, Baiba Lāce, Inge A. Meijer, Krishna Kumar Kandaswamy, Marialuisa Quadri, Barbara Garavaglia, Katja Lohmann, Peter Bauer, Niccolò E. Mencacci, Steven Lubbe, Christine Klein, Aida M. Bertoli‐Avella, Vincenzo Bonifati

    出版 2020
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  19. 19
    <i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations

    <i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations 由 Vanessa French, Ingrid M.B.H. van de Laar, Marja W. Wessels, Christan F. Rohé, Jolien W. Roos‐Hesselink, Guangliang Wang, Ingrid M.E. Frohn-Mulder, Lies‐Anne Severijnen, Bianca M. de Graaf, Rachel Schot, Guido J. Breedveld, Edwin Mientjes, Marianne van Tienhoven, Elodie Jadot, Zhengxin Jiang, Annemieke J.M.H. Verkerk, Sigrid M.A. Swagemakers, Hanka Venselaar, Zohreh Rahimi, Hossein Najmabadi, Hanne Meijers-Heijboer, Esther de Graaff, Wim A. Helbing, Rob Willemsen, Koenraad Devriendt, John W. Belmont, Ben A. Oostra, Jeffrey D. Amack, Aida M. Bertoli‐Avella

    出版 2012
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  20. 20
    Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia

    Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia 由 Femke M.S. de Vrij, Christian G. Bouwkamp, Nilhan Gunhanlar, Guy Shpak, Bas Lendemeijer, Maarouf Baghdadi, Shreekara Gopalakrishna, Mehrnaz Ghazvini, Tracy Li, Marialuisa Quadri, Simone Olgiati, Guido J. Breedveld, Michiel Coesmans, Edwin Mientjes, Ton de Wit, Frans W. Verheijen, H. Berna Beverloo, Dan Cohen, Rob Kok, P. Roberto Bakker, Aviva Nijburg, Annet T. Spijker, P.M.J. Haffmans, Erik Hoencamp, Veerle Bergink, Jacob Vorstman, Timothy Wu, Loes M. Olde Loohuis, Najaf Amin, C. D. de LANGEN, Albert Hofman, Witte J.G. Hoogendijk, Cornelia M. van Duijn, M. Arfan Ikram, Meike W. Vernooij, Henning Tiemeier, André G. Uitterlinden, Ype Elgersma, Ben Distel, Joost Gribnau, Tonya White, Vincenzo Bonifati, Steven A. Kushner

    出版 2018
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