檢索結果 - Karishma D’Sa

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  1. 1
    An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

    An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks 由 Juan A. Botía, Jana Vandrovcová, Paola Forabosco, Sebastian Guelfi, Karishma D’Sa, John Hardy, Cathryn M. Lewis, Mina Ryten, Michael E. Weale

    出版 2017
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  2. 2
    Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

    Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders 由 David Zhang, Sebastian Guelfi, Sonia García-Ruiz, Beatrice Costa, Regina H. Reynolds, Karishma D’Sa, Wenfei Liu, Thomas Courtin, Amy Peterson, Andrew E. Jaffe, John Hardy, Juan A. Botía, Leonardo Collado‐Torres, Mina Ryten

    出版 2020
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  3. 3
    Mitochondrial dysfunction is a key pathological driver of early stage Parkinson’s

    Mitochondrial dysfunction is a key pathological driver of early stage Parkinson’s 由 Christina E. Toomey, Wendy Heywood, James R. Evans, Joanne Lachica, Sarah N. Pressey, Sandrine C. Foti, Mesfer Al Shahrani, Karishma D’Sa, Iain P. Hargreaves, Simon Heales, Michael Orford, Claire Troakes, Johannes Attems, Ellen Gelpí, Miklós Palkovits, Tammaryn Lashley, Steve Gentleman, Tamás Révész, Kevin Mills, Sonia Gandhi

    出版 2022
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  4. 4
    Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci

    Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci 由 Marc P. M. Soutar, Daniela Melandri, Benjamin O’Callaghan, Emily Annuario, Amy E. Monaghan, Natalie J. Welsh, Karishma D’Sa, Sebastian Guelfi, David Zhang, Alan Pittman, Daniah Trabzuni, Anouk H. A. Verboven, Kylie S. Pan, Demis A. Kia, Magda Bictash, Sonia Gandhi, Henry Houlden, Mark Cookson, Nael Nadif Kasri, Nicholas Wood, Andrew Singleton, John Hardy, Paul J. Whiting, Cornelis Blauwendraat, Alexander J. Whitworth, Claudia Manzoni, Mina Ryten, Patrick A. Lewis, Hélène Plun‐Favreau

    出版 2022
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  5. 5
    Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

    Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders 由 Niccolò E. Mencacci, Regina H. Reynolds, Sonia García-Ruiz, Jana Vandrovcová, Paola Forabosco, Álvaro Sánchez‐Ferrer, Viola Volpato, Juan A. Botía, Karishma D’Sa, Paola Forabosco, Sebastian Guelfi, John Hardy, Jana Vandrovcová, C. L. MacKenzie, Adaikalavan Ramasamy, Mina Ryten, Colin Smith, Daniah Trabzuni, Michael E. Weale, 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, 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, Chingiz Shashakin, Nazira Zharkinbekova, Elena Zholdybayeva, Akbota Aitkulova, Kirsten Harvey, Michael E. Weale, Kailash P. Bhatia, Caleb Webber, John Hardy, Juan A. Botía, Mina Ryten

    出版 2020
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  6. 6
    Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

    Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information 由 Sebastian Guelfi, Karishma D’Sa, Juan A. Botía, Jana Vandrovcová, Regina H. Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado‐Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A. Gagliano Taliun, Mike A. Nalls, Alastair Noyce, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, J. Raphael Gibbs, Dena Hernández, 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, 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

    出版 2020
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