Výsledky vyhledávání - Laurie Robak

  • Zobrazuji výsledky 1 - 18 z 18
Upřesnit hledání
  1. 1
    Genetics and Pathogenesis of Parkinson's Syndrome

    Genetics and Pathogenesis of Parkinson's Syndrome Autor Hui Ye, Laurie Robak, Meigen Yu, Matthew D. Cykowski, Joshua Shulman

    Vydáno 2022
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Synaptic Function for the Nogo-66 Receptor NgR1: Regulation of Dendritic Spine Morphology and Activity-Dependent Synaptic Strength

    Synaptic Function for the Nogo-66 Receptor NgR1: Regulation of Dendritic Spine Morphology and Activity-Dependent Synaptic Strength Autor Hakjoo Lee, Stephen J. Raiker, Karthik Venkatesh, Rebecca Geary, Laurie Robak, Yu Zhang, Hermes H. Yeh, Peter Shrager, Roman J. Giger

    Vydáno 2008
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Missense variants in the middle domain of<i>DNM1L</i>in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in<i>Drosophila</i>

    Missense variants in the middle domain of<i>DNM1L</i>in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in<i>Drosophila</i> Autor Yu-Hsin Chao, Laurie Robak, Fan Xia, Mary Kay Koenig, Adekunle Adesina, Carlos A. Bacino, Fernando Scaglia, Hugo J. Bellen, Michael F. Wangler

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Molecular Basis of the Interactions of the Nogo-66 Receptor and Its Homolog NgR2 with Myelin-Associated Glycoprotein: Development of NgR<sup>OMNI</sup>-Fc, a Novel Antagonist of CNS Myelin Inhibition

    Molecular Basis of the Interactions of the Nogo-66 Receptor and Its Homolog NgR2 with Myelin-Associated Glycoprotein: Development of NgR<sup>OMNI</sup>-Fc, a Novel Antagonist of CN... Autor Laurie Robak, Karthik Venkatesh, Hakjoo Lee, Stephen J. Raiker, Yuntao Duan, Jane Lee‐Osbourne, Thomas Höfer, Rose G. Mage, Christoph Rader, Roman J. Giger

    Vydáno 2009
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Whole-Exome Sequencing in Familial Parkinson Disease

    Whole-Exome Sequencing in Familial Parkinson Disease Autor Janice L. Farlow, Laurie Robak, Kurt N. Hetrick, Kevin M. Bowling, Eric Boerwinkle, Zeynep Coban‐Akdemir, Tomasz Gambin, Richard A. Gibbs, Shen Gu, Preti Jain, Joseph Jankovic, Shalini N. Jhangiani, Kaveeta Kaw, Dongbing Lai, Hai Lin, Hua Ling, Yunlong Liu, James R. Lupski, Donna M. Muzny, Paula Porter, Elizabeth Pugh, Janson J. White, Kimberly F. Doheny, R Myers, Joshua Shulman, Tatiana Foroud

    Vydáno 2015
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease

    Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease Autor Thomas P Spargo, Chloe F. Sands, Isabella R. Juan, Jonathan Mitchell, Vida Ravanmehr, Jessica C. Butts, Ruth B. De-Paula, Young-Doo Kim, Fengyuan Hu, Quanli Wang, Dimitrios Vitsios, Manik Garg, Lawrence Middleton, Michal Tyrlik, Mirko Messa, Guillermo del Angel, Daniel G. Calame, Hiba Saade, Laurie Robak, Ben Hollis, Vishnu Anand Cuddapah, Huda Y. Zoghbi, Joshua M. Shulman, Slavé Petrovski, Ismael Al‐Ramahi, Ioanna Tachmazidou, Ryan S. Dhindsa

    Vydáno 2025
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation Autor Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T. R. M. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert Fonya Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, María J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael Parker, Natalie Canham, Margaret L. McKinnon, Lorraine Potocki, Jennifer MacKenzie, Elizabeth Roeder, Philippe M. Campeau, Xiang-Jiao Yang

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

    NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases Autor Cornelis Blauwendraat, Faraz Faghri, Lasse Pihlstrøm, Joshua T. Geiger, Alexis Elbaz, Suzanne Lesage, Jean‐Christophe Corvol, Patrick May, Aude Nicolas, Yevgeniya Abramzon, Natalie A. Murphy, J. Raphael Gibbs, Mina Ryten, Raffaele Ferrari, José Brás, Rita Guerreiro, Julie Williams, Rebecca Sims, Steven Lubbe, Dena Hernandez, Kin Y. Mok, Laurie Robak, Roy H. Campbell, Ekaterina Rogaeva, Bryan J. Traynor, Ruth Chia, Sun Ju Chung, John Hardy, Alexis Brice, Nicholas Wood, Henry Houlden, Joshua Shulman, Huw R. Morris, Thomas Gasser, Rejko Krüger, Peter Heutink, Manu Sharma, Javier Simón‐Sánchez, Mike A. Nalls, Andrew B. Singleton, Sonja W. Scholz

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Use of Exome Sequencing for Infants in Intensive Care Units

    Use of Exome Sequencing for Infants in Intensive Care Units Autor Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patricia A. Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari Tokita, Teresa Santiago‐Sim, Hongzheng Dai, Theodore Chiang, Hadley Stevens Smith, Mahshid S. Azamian, Laurie Robak, Bret L. Bostwick, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A. Bacino, Neil A. Hanchard, Michael F. Wangler, Daryl A. Scott, Chester Brown, Jianhong Hu, John W. Belmont, Lindsay C. Burrage, Brett H. Graham, V. Reid Sutton, William J. Craigen, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Donna M. Muzny, Marcus J. Miller, Xia Wang, Magalie S. Leduc, Rui Xiao, Pengfei Liu, Chad A. Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M. Eng, Yaping Yang, Seema R. Lalani

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

    Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease Autor Laurie Robak, Iris E. Jansen, Jeroen van Rooij, André G. Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua Shulman, Mike A. Nalls, Vincent Plagnol, Dena G Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Sampath Arepalli, Roger A. Barker, Yoav Ben-, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bas R. Bloem, Zoltán Bochdanovits, Michael Bonin, José Brás, Kathrin Brockmann, Janet Brooks, David J. Burn, Elisa Majounie, Gavin Charlesworth, Codrin Lungu, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, Jean‐François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, F. Durif, Alexandra Dürr, Sarah Edkins, Jonathan Evans, Thomas Foltynie, Jing Dong, Michelle Gardner, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert R. Hollenbeck, Janice L. Holton, Joshua Shulman, Joshua Shulman, Isabel Wurster, Walter Mätzler, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Jean‐Charles Lambert, Cordelia Langford, Andrew J. Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Codrin Lungu, Alisdair McNeill, Catriona Moorby, Matthew Moore, Huw R. Morris, Karen Morrison, Valentina Escott‐Price, Ese Mudanohwo, Sean S. O’Sullivan, Justin Pearson, Joel S. Perlmutter, Hjörvar Pétursson, Pierre Pollak, Bart Post, Simon Potter, Bernard Ravina, Tamás Révész

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability Autor Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Thomas X. Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer Humberson, Laurie Robak, Daryl A. Scott, V. Reid Sutton, Cara Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zárate, Malin Kvarnung, Kevin P. Lally, Peggy Kulch, Brina Daniels, Andrés Hernández, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer A. Sullivan, Madeleine R. Geisheker, Asbjørg Stray‐Pedersen, Jennifer Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth M. Kalb, Megha Desai, Ashley H. Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep Coban‐Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza H. Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne‐Sophie Denommé‐Pichon, Claude Férec

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  12. 12
    Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

    Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset Autor Kimberley J. Billingsley, Inês A. Barbosa, Sara Bandrés‐Ciga, John P. Quinn, Vivien J. Bubb, Charu Deshpande, Juan A. Botía, Regina H. Reynolds, David Zhang, Michael A. Simpson, Cornelis Blauwendraat, Ziv Gan‐Or, J. Raphael Gibbs, Mike A. Nalls, Andrew Singleton, Alastair Noyce, Arianna Tucci, Ben Middlehurst, Demis A. Kia, Mingpu Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, José Brás, Kin Y. Mok, Kerri J. Kinghorn, Nicholas Wood, Patrick A. Lewis, Rita Guerreiro, Ruth C. Lovering, Lea R’Bibo, Mie Rizig, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, N. Williams, Alexis Brice, Fabrice Danjou, Suzanne Lesage, María Martínez, Ayush Giri, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark Cookson, Faraz Faghri, Dena Hernández, J. Shulman, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Sonja W. Scholz, Xylena Reed, Hampton L. Leonard, Guy A. Rouleau, Lynne Krohan, JJ van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, M. Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, J. Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Magally Bernal, María Teresa Boungiorno, Dolores Buiza‐Rueda, Ana Cámara, María Cárcel, F. Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta, Mónica Díez-Fairén, Oriol Dols‐Icardo, J. Duarte, R. l. Duran, Francisco Escamilla‐Sevilla, Mario Ezquerra, Manel Fernández, Rubén Fernández‐Santiago, C. Garcı́a, Pedro Ruiz, Pilar Gómez‐Garre, Mégane Heredia, Isabel González Aramburu, Ana Gorostidi Pagola

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  13. 13
    Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

    Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets Autor Demis A. Kia, David Zhang, Sebastian Guelfi, Claudia Manzoni, Leon Hubbard, Regina H. Reynolds, Juan A. Botía, Mina Ryten, Raffaele Ferrari, Patrick A. Lewis, Nigel Williams, Daniah Trabzuni, John Hardy, Nicholas Wood, Alastair Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, José Brás, John P. Quinn, Kin Y. Mok, Kerri J. Kinghorn, Kimberley J. Billingsley, Nicholas Wood, Patrick A. Lewis, Sebastian R. Schreglmann, Rita Guerreiro, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, Cornelis Blauwendraat, David W. Craig, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Roy N. Alcalay, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Jacobus J. van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Anna Maria Novella Càmara, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  14. 14
    Identification of sixteen novel candidate genes for late onset Parkinson’s disease

    Identification of sixteen novel candidate genes for late onset Parkinson’s disease Autor Alessandro Gialluisi, Mafalda Giovanna Reccia, Nicola Modugno, Teresa Nutile, Alessia Lombardi, Luca Giovanni Di Giovannantonio, Sara Pietracupa, Daniela Ruggiero, Simona Scala, Stefano Gambardella, Alastair Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, John P. Quinn, Vivien J. Bubb, Kin Y. Mok, Kerri J. Kinghorn, Kimberley J. Billingsley, Nicholas Wood, Patrick A. Lewis, Sebastian R. Schreglmann, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Karen Morrison, Carl E Clarke, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Mark Cookson, Sara Bandrés‐Ciga, Cornelis Blauwendraat, David W. Craig, Derek P. Narendra, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hirotaka Iwaki, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, José Brás, Rita Guerreiro, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Roy N. Alcalay, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Lynne Krohn, Jacobus J. van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  15. 15
    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Autor Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A.F. Stessman, Aurora Pujol, Ben Distel, Laurie Robak, Jonathan A. Bernstein, Anne‐Sophie Denommé‐Pichon, Gaëtan Lesca, Elizabeth A. Sellars, Jonathan Berg, Wilfrid Carré, Øyvind L. Busk, Bregje W.M. van Bon, Jeff L. Waugh, Matthew A. Deardorff, George Hoganson, Katherine B. Bosanko, Diana Johnson, Tabib Dabir, Øystein L. Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir J. Braathen, Paulien A. Terhal, Dorothy K. Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth Bhoj, Jessica Douglas, Avni Santani, Addie I. Nesbitt, Katherine L. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory M. Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn A. Lincoln, Brandon H. Kusako, Pierre Lindenbaum, Éric Charpentier, C. Nowak, Elouan Chérot, Thomas Simonet, Claudia Ruivenkamp, Sihoun Hahn, Donna M. Brown, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert‐Dussardier, Annick Toutain, V. Reid Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas M. Grabrucker, Christèle Dubourg, Wen‐Hann Tan, Nienke E. Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew W. State, Tjitske Kleefstra, Benjamin Cogné, Slavé Petrovski, Kyle Retterer, Evan E. Eichler, Jill A. Rosenfeld, Pankaj B. Agrawal

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  16. 16
    Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

    Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability Autor Regina H. Reynolds, Juan A. Botía, Mike A. Nalls, Alastair Noyce, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, J. Raphael Gibbs, Dena G. Hernandez, Andrew Singleton, Xylena Reed, Hampton L. Leonard, Cornelis Blauwendraat, Faraz Faghri, José Brás, Rita Guerreiro, Arianna Tucci, Demis A. Kia, Henry Houlden, Hélène Plun‐Favreau, Kin Y. Mok, Nicholas Wood, Ruth C. Lovering, Lea R’Bibo, Mie Rizig, Viorica Chelban, Daniah Trabzuni, Manuela Tan, Huw R. Morris, Ben Middlehurst, John P. Quinn, Kimberley J. Billingsley, Peter Holmans, Kerri J. Kinghorn, Patrick A. Lewis, Valentina Escott‐Price, Nigel Williams, Thomas Foltynie, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Anamika Giri, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Thomas Gasser, Patrizia Rizzu, Manu Sharma, Joshua Shulman, Laurie Robak, Steven Lubbe, Niccolò E. Mencacci, Steven Finkbeiner, Codrin Lungu, Sonja W. Scholz, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohan, Jacobus J. van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, Inmaculada Bernal‐Bernal, Marta Bonilla‐Toribio, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Pablo Mir, Pilar Gómez‐Garre, Silvia Jesús, Miguel A. Labrador‐Espinosa, Daniel Macías, Laura Vargas‐González, Carlota Méndez‐del‐Barrio, María Teresa Periñán, Cristina Tejera‐Parrado, Mónica Díez-Fairén, Miquel Aguilar, Ignacio Álvarez, María Teresa Boungiorno, María Cárcel, Pau Pástor, Juan Pablo Tartari, Victoria Álvarez, Manuel Menéndez‐González, Marta Blázquez Estrada, Ciara García, Esther Suárez-Sanmartín, Francisco Javier Barrero, Elisabet Mondragón Rezola, Jesús Alberto Bergareche Yarza, Ana Gorostidi Pagola, Adolfo López de Munaín Arregui, Javier Ruiz‐Martínez, Debora Cerdan, J. Duarte, Jordi Clarimón, Oriol Dols‐Icardo

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  17. 17
    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation Autor Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov, Anita Beck, Emily Farrow, Lisa Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz‐Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary Kay Koenig, Madeline Graf, Alyssa A. Tran, Mercedes E. Alejandro, Brendan Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao‐Tuan Chao, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  18. 18
    Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome Autor Catherine S. Storm, Demis A. Kia, Mona Mohammad Almramhi, Sara Bandrés‐Ciga, Chris Finan, Alastair Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, John P. Quinn, Vivien J. Bubb, Kin Y. Mok, Kerri J. Kinghorn, Patrick A. Lewis, Sebastian R. Schreglmann, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Karen Morrison, Carl E Clarke, Kirsten Harvey, Benjamin Meir Jacobs, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Susanne A. Schneider, Mark Cookson, Cornelis Blauwendraat, David W. Craig, Kimberley J. Billingsley, Mary B. Makarious, Derek P. Narendra, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hirotaka Iwaki, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, José Brás, Rita Guerreiro, Steven Lubbe, Timothy Troycoco, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Ryan J. Uitti, Owen A. Ross, Francis P. Grenn, Anni Moore, Roy N. Alcalay, Zbigniew K. Wszołek, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Kheireddin Mufti, Jacobus J. van Hilten, Johan Marinus, Astrid D. Adarmes-Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Ana Cámara, Fátima Carrillo, Mario Carrión‐Claro

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: