Progress in the genetics of restless legs syndrome: the path ahead in the era of whole-genome sequencing

por Akçimen, Fulya, Dion, Patrick A, Rouleau, Guy A
Publicado 2022

Screening of novel restless legs syndrome–associated genes in French-Canadian families

por Akçimen, Fulya, Spiegelman, Dan, Dionne-Laporte, Alexandre, Gan-Or, Ziv, Dion, Patrick A., Rouleau, Guy A.
Publicado 2018

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

por Liao, Calwing, Laporte, Alexandre D., Spiegelman, Dan, Akçimen, Fulya, Joober, Ridha, Dion, Patrick A., Rouleau, Guy A.
Publicado 2019

Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes

por Akçimen, Fulya, Sarayloo, Faezeh, Liao, Calwing, Ross, Jay P., Oliveira, Rachel De Barros, Dion, Patrick A., Rouleau, Guy A.
Publicado 2020

Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11

por Iskender, Ceren, Kartal, Ece, Akcimen, Fulya, Kocoglu, Cemile, Ozoguz, Aslihan, Kotan, Dilcan, Eraksoy, Mefkure, Parman, Yesim G., Basak, Ayse Nazli
Publicado 2015

Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome

por Liao, Calwing, Vuokila, Veikko, Catoire, Hélène, Akçimen, Fulya, Ross, Jay P., Bourassa, Cynthia V., Dion, Patrick A., Meijer, Inge A., Rouleau, Guy A.
Publicado 2022

Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis

por Ross, Jay P., Akçimen, Fulya, Liao, Calwing, Spiegelman, Dan, Weisburd, Ben, Dupré, Nicolas, Dion, Patrick A., Rouleau, Guy A., Farhan, Sali M.K.
Publicado 2022

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

por Sarayloo, Faezeh, Dionne-Laporte, Alexandre, Catoire, Helene, Rochefort, Daniel, Houle, Gabrielle, Ross, Jay P., Akçimen, Fulya, Barros Oliveira, Rachel De, Turecki, Gustavo, Dion, Patrick A., Rouleau, Guy A.
Publicado 2019

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

por Liao, Calwing, Sarayloo, Faezeh, Vuokila, Veikko, Rochefort, Daniel, Akçimen, Fulya, Diamond, Simone, Houle, Gabrielle, Laporte, Alexandre D., Spiegelman, Dan, He, Qin, Catoire, Hélène, Dion, Patrick A., Rouleau, Guy A.
Publicado 2020

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

por Akçimen, Fulya, Ross, Jay P., Bourassa, Cynthia V., Liao, Calwing, Rochefort, Daniel, Gama, Maria Thereza Drumond, Dicaire, Marie-Josée, Barsottini, Orlando G., Brais, Bernard, Pedroso, José Luiz, Dion, Patrick A., Rouleau, Guy A.
Publicado 2019

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

por Akçimen, Fulya, Martins, Sandra, Liao, Calwing, Bourassa, Cynthia V., Catoire, Hélène, Nicholson, Garth A., Riess, Olaf, Raposo, Mafalda, França, Marcondes C., Vasconcelos, João, Lima, Manuela, Lopes-Cendes, Iscia, Saraiva-Pereira, Maria Luiza, Jardim, Laura B., Sequeiros, Jorge, Dion, Patrick A., Rouleau, Guy A.
Publicado 2020

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

por Mitropoulos, Konstantinos, Merkouri Papadima, Eleni, Xiromerisiou, Georgia, Balasopoulou, Angeliki, Charalampidou, Kyriaki, Galani, Vasiliki, Zafeiri, Krystallia-Vassiliki, Dardiotis, Efthymios, Ralli, Styliani, Deretzi, Georgia, John, Anne, Kydonopoulou, Kyriaki, Papadopoulou, Elpida, di Pardo, Alba, Akcimen, Fulya, Loizedda, Annalisa, Dobričić, Valerija, Novaković, Ivana, Kostić, Vladimir S., Mizzi, Clint, Peters, Brock A., Basak, Nazli, Orrù, Sandro, Kiskinis, Evangelos, Cooper, David N., Gerou, Spyridon, Drmanac, Radoje, Bartsakoulia, Marina, Tsermpini, Evangelia-Eirini, Hadjigeorgiou, Georgios M., Ali, Bassam R., Katsila, Theodora, Patrinos, George P.
Publicado 2017

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

por Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea
Publicado 2023

Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis

por Liao, Calwing, Castonguay, Charles-Etienne, Heilbron, Karl, Vuokila, Veikko, Medeiros, Miranda, Houle, Gabrielle, Akçimen, Fulya, Ross, Jay P., Catoire, Helene, Diez-Fairen, Monica, Kang, Jooeun, Mueller, Stefanie H., Girard, Simon L., Hopfner, Franziska, Lorenz, Delia, Clark, Lorraine N., Soto-Beasley, Alexandra I., Klebe, Stephan, Hallett, Mark, Wszolek, Zbigniew K., Pendziwiat, Manuela, Lorenzo-Betancor, Oswaldo, Seppi, Klaus, Berg, Daniela, Vilariño-Güell, Carles, Postuma, Ronald B., Bernard, Geneviève, Dupré, Nicolas, Jankovic, Joseph, Testa, Claudia M., Ross, Owen A., Arzberger, Thomas, Chouinard, Sylvain, Louis, Elan D., Mandich, Paola, Vitale, Carmine, Barone, Paolo, García-Martín, Elena, Alonso-Navarro, Hortensia, Agúndez, José A. G., Jiménez-Jiménez, Félix Javier, Pastor, Pau, Rajput, Alex, Deuschl, Günther, Kuhlenbaümer, Gregor, Meijer, Inge A., Dion, Patrick A., Rouleau, Guy A.
Publicado 2022