Genetic factors and shared environment contribute equally to objective singing ability

Autor: Yeom, Daniel, Tan, Yi Ting, Haslam, Nick, Mosing, Miriam A., Yap, Valerie M.Z., Fraser, Trisnasari, Hildebrand, Michael S., Berkovic, Sam F., McPherson, Gary E., Peretz, Isabelle, Wilson, Sarah J.

Publikováno v: In iScience 17 June 2022 25(6)

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Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

A recessive ataxia diagnosis algorithm for the next generation sequencing era

Autor: Renaud, Mathilde, Tranchant, Christine, Group, RADIAL Working, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A, Bompaire, Flavie, Bonneau, Dominique, Martin, Juan Vicente Torres, Bonneau, Patrizia, Boycott, Kym M, Bras, Jose, Brais, Bernard, Brigatti, Karlla W, Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Mochel, Fanny, Dotti, Maria Teresa, El-Euch, Ghada, Elmalik, Salah A, Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin-Baer, Sharon, Heimdal, Ketil Riddervold, Synofzik, Matthis, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu-Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, van de Warrenburg, Bart, Lu, Chin-Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Pandolfo, Massimo, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A, Sousa, Sergio, Stanier, Philip, Stoppa-Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Koenig, Michel, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I, Yahalom, Gilad, Yoon, Grace, Young, Millie, Kolb, Stefan A, Anheim, Mathieu

Publikováno v: Annals of Neurology
Annals of Neurology, Wiley, 2017, 82 (6), pp.892-899. ⟨10.1002/ana.25084⟩
Annals of Neurology, Wiley, 2017, 82 (6), pp.892--899. ⟨10.1002/ana.25084⟩
Annals of Neurology, 82, 892-899
Annals of Neurology, 82, 6, pp. 892-899
Annals of neurology 82(6), 892-899 (2017). doi:10.1002/ana.25084

International audience; OBJECTIVE: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype of a patient has been devel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aeee06d99441de2322bfdd77ca3e0c8
https://pubmed.ncbi.nlm.nih.gov/29059497

The epilepsy phenome/genome project

Autor: EPGP Collaborative, Abou-Khalil, Bassel, Alldredge, Brian, Bautista, Jocelyn, Berkovic, Sam, Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Cristofaro, Sabrina, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael, Fahlstrom, Robyn, Fiol, Miguel, Fountain, Nathan, Fox, Kristen, French, Jacqueline, Freyer Karn, Catharine, Friedman, Daniel, Geller, Eric, Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl, Hayward, Jean, Helmers, Sandra, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi, Knowlton, Robert, Kossoff, Eric, Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel, McGuire, Shannon, Motika, Paul, Nesbitt, Gerard, Novotny, Edward, Ottman, Ruth, Paolicchi, Juliann, Parent, Jack, Park, Kristen, Poduri, Annapurna, Risch, Neil, Sadleir, Lynette, Scheffer, Ingrid, Shellhaas, Renee, Sherr, Elliott, Shih, Jerry J, Shinnar, Shlomo, Singh, Rani, Sirven, Joseph, Smith, Michael, Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen, von Allmen, Gretchen, Weisenberg, Judith, Widdess-Walsh, Peter, Winawer, Melodie

Publikováno v: Clinical trials (London, England), vol 10, iss 4

BackgroundEpilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::d399f263078a944ec9ea8546de547151
https://escholarship.org/uc/item/1t77p43g