檢索結果 - Inge A. Meijer

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  1. 1
    Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

    Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia 由 Paul N. Valdmanis, Inge A. Meijer, Annie Reynolds, Adrienne Lei, Patrick MacLeod, David Schlesinger, Mayana Zatz, Evan Reid, Patrick A. Dion, Pierre Drapeau, Guy A. Rouleau

    出版 2006
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  2. 2
    The genetic landscape of infantile spasms

    The genetic landscape of infantile spasms 由 Jacques L. Michaud, Mathieu Lachance, Fadi F. Hamdan, Lionel Carmant, Anne Lortie, Paola Diadori, Philippe Major, Inge A. Meijer, Emmanuelle Lemyre, Patrick Cossette, Heather C. Mefford, Guy A. Rouleau, Elsa Rossignol

    出版 2014
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  3. 3
    VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

    VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families 由 Cynthia V. Bourassa, Inge A. Meijer, Nancy D. Merner, Kanwal K. Grewal, Mark Stefanelli, Kathleen Hodgkinson, Elizabeth Ives, William Pryse‐Phillips, Mandar Jog, Kym M. Boycott, David A. Grimes, Sharan Goobie, Richard Leckey, Patrick A. Dion, Guy A. Rouleau

    出版 2012
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  4. 4
    TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

    TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 由 Kevin Lüthy, Davide Mei, Baptiste Fischer, Maurizio De Fusco, Jef Swerts, Jone Paesmans, Elena Parrini, Naomi Lubarr, Inge A. Meijer, Katherine M. Mackenzie, Wang‐Tso Lee, Davide Cittaro, Paolo Aridon, Nils Schoovaerts, Wim Versées, Patrik Verstreken, Giorgio Casari, Renzo Guerrini

    出版 2019
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  5. 5
    A Variant in XPNPEP2 Is Associated with Angioedema Induced by Angiotensin I–Converting Enzyme Inhibitors

    A Variant in XPNPEP2 Is Associated with Angioedema Induced by Angiotensin I–Converting Enzyme Inhibitors 由 Qing Duan, Borzoo Nikpoor, Marie‐Pierre Dubé, Giuseppe A. Molinaro, Inge A. Meijer, Patrick A. Dion, Daniel Rochefort, Judith Saint‐Onge, Leah Flury, Nancy J. Brown, James V. Gainer, Jean L. Rouleau, A Agostoni, Massimo Cugno, Pierre Simon, P. Clavel, J. Potier, Bassem Wehbe, Seddik Benarbia, J Marc-Aurèle, J Chanard, Tatiana Foroud, Albert Adam, Guy A. Rouleau

    出版 2005
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  6. 6
    <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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  7. 7
    Analysis of <i> <scp> <i>LMNB</i> </scp> 1 </i> Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression

    Analysis of <i> <scp> <i>LMNB</i> </scp> 1 </i> Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression 由 Elisa Giorgio, Harshvardhan Rolyan, Laura E. Kropp, Anish Bhaswanth Chakka, Svetlana A. Yatsenko, Eleonora Di Gregorio, Daniela Lacerenza, Giovanna Vaula, Flavia Talarico, Paola Mandich, Camilo Toro, Éléonore Eymard-Pierre, Pierre Labauge, Sabina Capellari, Pietro Cortelli, Filippo Pinto e Vairo, Diego Miguel, Danielle Stubbolo, Lourenco Charles Marques, William A. Gahl, Odile Boespflug‐Tanguy, Atle Melberg, Sharon Hassin‐Baer, Oren Cohen, Rastislav Pjontek, Armin Grau, Thomas Klopstock, Brent L. Fogel, Inge A. Meijer, Guy A. Rouleau, Jean‐Pierre Bouchard, Madhavi K. Ganapathiraju, Adeline Vanderver, Niklas Dahl, Grace M. Hobson, Alfredo Brusco, Alessandro Brussino, Quasar Saleem Padiath

    出版 2013
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  8. 8
    Association of Essential Tremor With Novel Risk Loci

    Association of Essential Tremor With Novel Risk Loci 由 Calwing Liao, Charles-Etienne Castonguay, Karl Heilbron, Veikko Vuokila, Miranda Medeiros, Gabrielle Houle, Fulya Akçimen, Jay P. Ross, Hélène Catoire, Mónica Díez-Fairén, Jooeun Kang, Stefanie H. Mueller, Simon Girard, Franziska Hopfner, Delia Lorenz, Lorraine N. Clark, Alexandra I. Soto‐Beasley, Stephan Klebe, Mark Hallett, Zbigniew K. Wszołek, Manuela Pendziwiat, Oswaldo Lorenzo‐Betancor, Klaus Seppi, Daniela Berg, Carles Vilariño‐Güell, Ronald B. Postuma, Geneviève Bernard, Nicolas Dupré, Joseph Jankovic, Claudia M. Testa, Owen A. Ross, Thomas Arzberger, Sylvain Chouinard, Elan D. Louis, Paola Mandich, Carmine Vitale, Paolo Barone, Elena García‐Martín, Hortensia Alonso‐Navarro, José A. G. Agúndez, Félix Javier Jiménez‐Jiménez, Pau Pástor, Alex Rajput, Günther Deuschl, Gregor Kuhlenbäumer, Inge A. Meijer, Patrick A. Dion, Guy A. Rouleau

    出版 2022
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    Revisão
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