نتائج البحث - Fulya Akçimen
- يعرض 1 - 11 نتائج من 11
-
1
Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes حسب Calwing Liao, Alexandre D. Laporte, Dan Spiegelman, Fulya Akçimen, Ridha Joober, Patrick A. Dion, Guy A. Rouleau
منشور في 2019Artigo -
2
-
3
Investigation of the pathogenic <i>RFC1</i> repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations حسب Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicarie, Orlando Graziani Póvoas Barsottini, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Guy A. Rouleau
منشور في 2019Pré-impressão -
4
Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations حسب Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie‐Josée Dicaire, Orlando Graziani Póvoas Barsottini, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Guy A. Rouleau
منشور في 2019Artigo -
5
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease حسب Fulya Akçimen, Sandra Martins, Calwing Liao, Cynthia V. Bourassa, Hélène Catoire, Garth A. Nicholson, Olaf Rieß, Mafalda Raposo, Marcondes C. França, João Vasconcelos, Manuela Lima, Íscia Lopes‐Cendes, Maria Luiza Saraiva Pereira, Laura Bannach Jardim, Jorge Sequeiros, Patrick A. Dion, Guy A. Rouleau
منشور في 2019Pré-impressão -
6
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease حسب Fulya Akçimen, Sandra Martins, Calwing Liao, Cynthia V. Bourassa, Hélène Catoire, Garth A. Nicholson, Olaf Rieß, Mafalda Raposo, Marcondes C. França, João Vasconcelos, Manuela Lima, Íscia Lopes‐Cendes, Maria Luiza Saraiva Pereira, Laura Bannach Jardim, Jorge Sequeiros, Patrick A. Dion, Guy A. Rouleau
منشور في 2020Artigo -
7
Association of Essential Tremor With Novel Risk Loci حسب 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
منشور في 2022Revisão -
8
Large-scale genetic characterization of Parkinson′s disease in the African and African admixed populations حسب Fulya Akçimen, Kimberly Paquette, Peter Wild Crea, Paula Saffie Awad, Charles Achoru, Funmilola Taiwo, Simon Ozomma, Gerald Onwuegbuzie, Marzieh Khani, Spencer Grant, Lukman Owolabi, Chiamaka Okereke, Olajumoke Oshinaike, Emmanuel Iwuozo, Paul Suhwan Lee, Shyngle Oyakhire, Nosakhare Osemwegie, Kensuke Daida, Sani Abubakar, Adedunni Olusanya, Mariam Isayan, Rami Traurig, Adebimpe Ogunmodede, Sarah Samuel, Mary B. Makarious, Fawzy A. Saad, Rashidat Amoke Olanigan, Kristin Levine, Ewere Marie Ogbimi, Dan Vitale, Francis Odiase, Mathew J. Koretsky, FI Ojini, Olanike Odeniyi, Zih‐Hua Fang, Nkechi Obianozie, Deborah J. Hall, Ernest Nwazor, Tao Xie, Francisca Nwaokorie, Mahesh Padmanaban, Paul Osemeke Nwani, Ejaz A. Shamim, Alero Nnama, David G. Standaert, Morenikeji Komolafe, Marissa Dean, Godwin Osaigbovo, Elizabeth A. Disbrow, Ismail O. Ishola, Ashley Rawls, Frank Imarhiagbe, Shivika Chandra, Cyril Erameh, Vanessa K. Hinson, Naomi Louie, Ahmed O. Idowu, Justin Solle, Scott A. Norris, Abdullahi Adinoyi Ibrahim, Camilla Kilbane, Gauthaman Sukumar, Lisa Shulman, Daniel Ezuduemoih, Julia Staisch, Sarah Breaux, Clifton L. Dalgard, Erin R. Foster, Abiodun Bello, Andrew Ameri, Raquel Real, Erica Ikwenu, Huw R. Morris, Roosevelt Anyanwu, Erin Furr‐Stimming, Kimberley J. Billingsley, Wemimo Alaofin, Pilar Álvarez Jerez, Osigwe P. Agabi, Dena Hernández, Rufus Akinyemi, Sampath Arepalli, Laksh Malik, Raymond Owolabi, Yakub Nyandaiti, Hampton L. Leonard, Kolawole Wahab, Kathryn Step, Oladunni Abiodun, Carlos Hernández, Fatimah Binta Abdullahi, Hirotaka Iwaki, Soraya Bardien, Christine Klein, John Hardy, Henry Houlden, Kamalini Ghosh Galvelis, Mike A. Nalls, Nabila Dahodwala, Whitley W. Aamodt
منشور في 2025Pré-impressão -
9
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis حسب Natalia Dominik, Stefania Magri, Riccardo Currò, Elena Abati, Stefano Facchini, Marinella Corbetta, Hannah Macpherson, Daniela Di Bella, Elisa Sarto, Igor Stevanovski, Sanjog R. Chintalaphani, Fulya Akçimen, Arianna Manini, Elisa Vegezzi, Ilaria Quartesan, Kylie-Ann Montgomery, Valentina Pirota, Emmanuele Crespan, Cecilia Perini, Glenda Paola Grupelli, Pedro José Tomaselli, Wilson Marques, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, Gary C.W. Chan, C.E.H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Emil K. Gustavsson, Janna M. Hackett, Dina Halai, Angela Hamblin, S Henderson, J. Holman, Tim Hubbard, Kristina Ibáñez, Robert W. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, L. Lahnstein, Keith A. Lawson, S. E. A. Leigh, I. U. S. Leong, Fernando López, F. Maleady-Crowe, James Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Christine Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Thomas R. Rogers, Mina Ryten, Bianca Rugginini, K Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, Hanna E. Stevens, Ashley Stuckey, Rukhsana Sultana, Ellen Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Edward E. Walsh, Scott Watters, M. J. Welland, Eleanor Williams, Kate Witkowska, Scott Wood, Magdalena Zarowiecki, Joseph Shaw, James M. Polke
منشور في 2023Artigo -
10
Genome sequence analyses identify novel risk loci for multiple system atrophy حسب Ruth Chia, Anindita Ray, Zalak Shah, Jinhui Ding, Paola Ruffo, Masashi Fujita, Vilas Menon, Sara Sáez-Atiénzar, Paolo Reho, Karri Kaivola, Ronald L. Walton, Regina H. Reynolds, Ramita Karra, S.S.J. Sait, Fulya Akçimen, Mónica Díez-Fairén, Ignacio Álvarez, Alessandra Fanciulli, Nadia Stefanova, Klaus Seppi, Susanne Duerr, Fabian Leys, Florian Krismer, Victoria Sidoroff, Alexander Zimprich, Walter Pirker, Olivier Rascol, Alexandra Foubert‐Samier, Wassilios G. Meissner, François Tison, Anne Pavy‐Le Traon, Maria Teresa Pellecchia, Paolo Barone, Maria Claudia Russillo, Juan Marín‐Lahoz, Jaime Kulisevsky, Soraya Torres, Pablo Mir, María Teresa Periñán, Christos Proukakis, Viorica Chelban, Lesley Wu, Yee Yen Goh, Laura Parkkinen, Joshua Shulman, Christopher Kobylecki, Jennifer A. Saxon, Sara Rollinson, Emily M. Garland, Italo Biaggioni, Irene Litvan, Ileana Gabriela Sanchez Rubio, Roy N. Alcalay, Kimberly Kwei, Steven Lubbe, Qinwen Mao, Margaret E. Flanagan, Rudolph J. Castellani, Vikram Khurana, Alain Ndayisaba, Andrea Calvo, Gabriele Mora, Antonio Canosa, Gianluca Floris, Ryan C. Bohannan, Anni Moore, Lucy Norcliffe‐Kaufmann, Jose‐Alberto Palma, Horacio Kaufmann, Changyoun Kim, Michiyo Iba, Eliezer Masliah, Ted M. Dawson, Liana S. Rosenthal, Alexander Pantelyat, Marilyn S. Albert, Olga Pletniková, Juan C. Troncoso, Jon Infante, Carmen Lage, Pascual Sánchez‐Juan, Geidy E. Serrano, Thomas G. Beach, Pau Pástor, Huw R. Morris, Diego Albani, Jordi Clarimón, Gregor K. Wenning, John Hardy, Mina Ryten, Eric Topol, Ali Torkamani, Adriano Chiò, David A. Bennett, Philip L. De Jager, Philip Low, Wolfgang Singer, William P. Cheshire, Zbigniew K. Wszołek, Dennis W. Dickson
منشور في 2024Artigo -
11
<i>ATXN1</i> repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization حسب Gijs H P Tazelaar, Steven Boeynaems, Mathias De Decker, Joke J.F.A. van Vugt, Lindy Kool, H. Stephan Goedee, Russell L. McLaughlin, William Sproviero, Alfredo Iacoangeli, Matthieu Moisse, Maarten Jacquemyn, Dirk Daelemans, Annelot M Dekker, Rick A van der Spek, Henk‐Jan Westeneng, Kevin P. Kenna, Abdelilah Assialioui, Nica Da Silva, Fulya Akçimen, Ahmad Al Khleifat, Ammar Al‐Chalabi, Peter Andersen, A Nazli Basak, Denis C. Bauer, Ian P. Blair, William J Brands, Ross P. Byrne, Andrea Calvo, Yolanda Campos, Adriano Chiò, Jonothan Cooper-Knock, Philippe Corcia, Philippe Couratier, Mamede de Carvalho, Annelot M Dekker, Vivian E. Drory, Chen Eitan, Alberto García‐Redondo, Cinzia Gellera, Jonathan D. Glass, Marc Gotkine, Orla Hardiman, Eran Hornstein, Alfredo Iacoangeli, Kevin P. Kenna, Brandon Kenna, Matthew C Kiernan, Cemile Kocoglu, Maarten Kooyman, John E Landers, Victoria López-Alonso, Russell L. McLaughlin, Bas Middelkoop, Jonathan Mill, Miguel Mitne‐Neto, Matthieu Moisse, Jesus S Mora Pardina, Karen Morrison, Susana Pinto, Marta Gromicho, Mónica Povedano Panadés, Sara L. Pulit, Antonia Ratti, Wim Robberecht, Raymond D. Schellevis, Aleksey Shatunov, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, William Sproviero, Christine Staiger, Gijs H P Tazelaar, Nicola Ticozzi, Ceren Tunca, Nathalie A Twine, Philip Van Damme, Leonard H van den Berg, Rick A van der Spek, Perry T.C. van Doormaal, Kristel R. van Eijk, Michael A van Es, Wouter van Rheenen, Joke J.F.A. van Vugt, Jan H. Veldink, Peter M. Visscher, Patrick Vourc’h, Markus Weber, Kelly L. Williams, Naomi R. Wray, Jian Yang, Mayana Zatz, Katharine Zhang, Mónica Povedano, Jesus S Mora Pardina, Orla Hardiman, François Salachas, Stéphanie Millecamps, Patrick Vourc’h, Philippe Corcia, Philippe Couratier
منشور في 2020Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Medicine
Gene
Neuroscience
Genotype
Disease
Genome-wide association study
Internal medicine
Single-nucleotide polymorphism
Environmental health
Genetic association
Population
Allele
Ataxia
Computational biology
Pathology
Phenotype
Sequence (biology)
Trinucleotide repeat expansion
Amyotrophic lateral sclerosis
Cohort
Machado–Joseph disease
Psychology
Spinocerebellar ataxia
Age of onset
Astrophysics
Atrophy
Attention deficit hyperactivity disorder
Case-control study