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收藏Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencybiallelic NDUFA9基因变异导致一种进行性神经发育障碍，其特征为明显的肌张力障碍和线粒体复合物I缺乏。
Magrinelli, Francesca; Taylor, Lucie S.; Sedighzadeh, Sahar; Moualek, Dalila; Severino, Mariasavina; Grba, Daniel N.; Alston, Charlotte L.; Champion, Michael; Tavasoli, Ali Reza; Lascelles, Karine; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Fateh, Sahand Tehrani; Kordi-Tamandani, Mohammad; Khajeh, Ali; Yaghoubi, Saeedeh; Dominik, Natalia; Babaei, Meisam; Javadzadeh, Mohsen; Varaghchi, Jamileh Rezazadeh; Miryounesi, Mohammad; Ghayoor Karimiani, Ehsan; Tazir, Meriem; Ali Pacha, Lamia; Bhatia, Kailash P.; Taylor, Robert W.; Houlden, Henry; Maroofian, Reza 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Characterization of Recessive Parkinson Disease in a Large Multicenter StudyLesage, Suzanne; Lunati, Ariane; Houot, Marion; Ben Romdhan, Sawssan; Clot, Fabienne; Tesson, Christelle; Mangone, Graziella; Le Toullec, Benjamin; Courtin, Thomas; Larcher, Kathy; Benmahdjoub, Mustapha; Arezki, Mohamed; Bouhouche, Ahmed; Anheim, Mathieu; Roze, Emmanuel; Viallet, Francois; Tison, Francois; Broussolle, Emmanuel; Emre, Murat; Hanagasi, Hasmet; Bilgic, Basar; Tazir, Meriem; Ben Djebara, Mouna; Gouider, Riadh; Tranchant, Christine; Vidailhet, Marie; Le Guern, Eric; Corti, Olga; Mhiri, Chokri; Lohmann, Ebba; Singleton, Andrew; Corvol, Jean-Christophe; Brice, Alexis 分享 收藏 Nonsteroidal Anti-Inflammatory Use and LRRK2 Parkinson's Disease PenetranceSan Luciano, Marta; Tanner, Caroline M.; Meng, Cheryl; Marras, Connie; Goldman, Samuel M.; Lang, Anthony E.; Tolosa, Eduardo; Schule, Birgitt; Langston, J. William; Brice, Alexis; Corvol, Jean-Christophe; Goldwurm, Stefano; Klein, Christine; Brockman, Simone; Berg, Daniela; Brockmann, Kathrin; Ferreira, Joachim J.; Tazir, Meriem; Mellick, George D.; Sue, Carolyn M.; Hasegawa, Kazuko; Tan, Eng King; Bressman, Susan; Saunders-Pullman, Rachel 分享 收藏 A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Pareyson, Davide; Stojkovic, Tanya; Reilly, Mary M.; Leonard-Louis, Sarah; Laura, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello-Palot, Nathalie; Levy, Nicolas; Sacconi, Sabrina; Guimaraes-Costa, Raquel; Attarian, Sharham; Latour, Philippe; Sole, Guilhem; Megarbane, Andre; Horvath, Rita; Ricci, Giulia; Choi, Byung-Ok; Schenone, Angelo; Gemelli, Chiara; Geroldi, Alessandro; Sabatelli, Mario; Luigetti, Marco; Santoro, Lucio; Manganelli, Fiore; Quattrone, Aldo; Valentino, Paola; Murakami, Tatsufumi; Scherer, Steven S.; Dankwa, Lois; Shy, Michael E.; Bacon, Chelsea J.; Herrmann, David N.; Zambon, Alberto; Tramacere, Irene; Pisciotta, Chiara; Magri, Stefania; Previtali, Stefano C.; Bolino, Alessandra 分享 收藏 分享 收藏 Clinical features and prognosis of amyotrophic lateral sclerosis in Africa: the TROPALS studyLuna, Jaime; Diagana, Mouhamadou; Aissa, Leila Ait; Tazir, Meriem; Pacha, Lamia Ali; Kacem, Imen; Gouider, Riadh; Henning, Franclo; Basse, Anna; Cisse, Ousmane; Balogou, Agnon Ayelola Koffi; Kombate, Damelan; Agbetou, Mendinatou; Houinato, Dismand; Millogo, Athanase; Agba, Thierry; Belo, Mouftao; Penoty, Marie; Raymondeau-Moustafa, Marie; Hamidou, Bello; Couratier, Philippe; Preux, Pierre Marie; Marin, Benoit 分享 收藏 分享 收藏 Some new proposals for the classification of inherited myopathiesMathis, Stephane; Tazir, Meriem; Sole, Guilhem; Magy, Laurent; Le Masson, Gwendal; Couratier, Philippe; Ghorab, Karima; Duval, Fanny; Lacoste, Idoia; Goizet, Cyril; Vallat, Jean-Michel 分享 收藏 分享 收藏 History and current difficulties in classifying inherited myopathies and muscular dystrophiesMathis, Stephane; Tazir, Meriem; Magy, Laurent; Duval, Fanny; Le Masson, Gwendal; Duchesne, Mathilde; Couratier, Philippe; Ghorab, Karima; Sole, Guilhem; Lacoste, Idoia; Goizet, Cyril; Vallat, Jean-Michel 分享 收藏 分享 收藏 分享 收藏 Loss of VPS1 3C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagyLesage, Suzanne; Drouet, Valerie; Majounie, Elisa; Deramecourt, Vincent; Jacoupy, Maxime; Nicolas, Aude; Cormier-Dequaire, Florence; Hassoun, Sidi Mohamed; Pujol, Claire; Ciura, Sorana; Erpapazoglou, Zoi; Usenko, Tatiana; Maurage, Claude-Alain; Sahbatou, Mourad; Liebau, Stefan; Ding, Jinhui; Bilgic, Basar; Emre, Murat; Erginel-Unaltuna, Nihan; Guven, Gamze; Tison, Francois; Tranchant, Christine; Vidailhet, Marie; Corvol, Jean-Christophe; Krack, Paul; Leutenegger, Anne-Louise; Nalls, Michael A.; Hernandez, Dena G.; Heutink, Peter; Gibbs, J. Raphael; Hardy, John; Wood, Nicholas W.; Gasser, Thomas; Durr, Alexandra; Deleuze, Jean-Francois; Tazir, Meriem; Destee, Alain; Lohmann, Ebba; Kabashi, Edor; Singleton, Andrew; Corti, Olga; Brice, Alexis 分享 收藏 Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwideStockler-Ipsiroglu, Sylvia; Apatean, Delia; Battini, Roberta; DeBrosse, Suzanne; Dessoffy, Kimberley; Edvardson, Simon; Eichler, Florian; Johnston, Katherine; Koeller, David M.; Nouioua, Sonia; Tazir, Meriem; Verma, Ashok; Dowling, Monica D.; Wierenga, Klaas J.; Wierenga, Andrea M.; Zhang, Victor; Wong, Lee-Jun C. 分享 收藏 分享 收藏 分享 收藏 
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