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by Panagiotakaki, Eleni and De Grandis, Elisa and Stagnaro, Michela and Heinzen, Erin L and Fons, Carmen and Sisodiya, Sanjay and De Vries, Boukje and Goubau, Christophe and Weckhuysen, Sarah and Kemlink, David and Scheffer, Ingrid and Lesca, Gaëtan and Rabilloud, Muriel and Klich, Amna and Ramirez-Camacho, Alia and Ulate-Campos, Adriana and Campistol, Jaume and Giannotta, Melania and Moutard, Marie-Laure and Doummar, Diane and Hubsch-Bonneaud, Cecile and Jaffer, Fatima and Cross, Helen and Gurrieri, Fiorella and Tiziano, Danilo and Nevsimalova, Sona and Nicole, Sophie and Neville, Brian and Van Den Maagdenberg, Arn M. J. M and Mikati, Mohamad and Goldstein, David B and Vavassori, Rosaria and Arzimanoglou, Alexis and Bassi, Maria Teresa and Borgatti, Renato and Cernetti, Roberta and Di Rosa, Gabriella and Franchini, Filippo and Gambardella, Antonio and Giacanelli, Manlio and Gobbi, Giuseppe and Granata, Tiziana and Guerrini, Renzo and Incorpora, Gemma and Nardocci, Nardo and Neri, Giovanni and Ragona, Francesca and Santucci, Margherita and Sartori, Stefano and Veneselli, Edvige and Vigevano, Federico and Zucca, Claudio and Aicardi, J and An, I and Arbues, A.S and Arzimanoglou, A and Bahi-Buisson, N and Barthez, M.-A and Billette de Villemeur, T and Bourgeois, M and Bru, M and Chabrol, B and Chaigne, D and Chaunu, M.P and Chaunu, C and Cournelle, A.M and Davoine, C.-S and De St Martin, A and Deny, B and Desguerres, I and Des Portes, V and Doummar, D and Dulac, O and Dusser, A and Gerard, M and Gitiaux, C and Godet Kiesel, I and Gokben, S and Goutieres, F and Guerrin, M.-H and Heron-Longe, B and Hubsch-Bonneaud, C and Hully, M and Husson, M and Husson, Ch and Kaminska, A and Laroche, C and Lazaro, L and Lepine, A and Magy, L and Marchal, C and Michel, J and Milh, M and Motte, J and Moutard, M.L and Napuri, S and Nassogne, M.C and Neau, J.P and Nicole, S and Panagiotakaki, Eleni and ... and IBAHC Consortium and French AHC Consortium and Int AHC Consortium and International AHC Consortium and Italian IBAHC Consortium and The French AHC Consortium and The Italian IBAHC Consortium and The International AHC Consortium
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2015, Volume 10, Issue 1, p. 123
Journal Article
by Heinzen, Erin L and Swoboda, Kathryn J and Hitomi, Yuki and Gurrieri, Fiorella and De Vries, Boukje and Tiziano, F. Danilo and Fontaine, Bertrand and Walley, Nicole M and Heavin, Sinéad and Panagiotakaki, Eleni and Fiori, Stefania and Abiusi, Emanuela and Di Pietro, Lorena and Sweney, Matthew T and Newcomb, Tara M and Viollet, Louis and Huff, Chad and Jorde, Lynn B and Reyna, Sandra P and Murphy, Kelley J and Shianna, Kevin V and Gumbs, Curtis E and Little, Latasha and Silver, Kenneth and Ptáček, Louis J and Haan, Joost and Ferrari, Michel D and Bye, Ann M and Herkes, Geoffrey K and Whitelaw, Charlotte M and Webb, David and Lynch, Bryan J and Uldall, Peter and King, Mary D and Scheffer, Ingrid E and Neri, Giovanni and Arzimanoglou, Alexis and Van Den Maagdenberg, Arn M.J.M and Sisodiya, Sanjay M and Mikati, Mohamad A and Goldstein, David B and Koelewijn, Stephany and Kamphorst, Jessica and Geilenkirchen, Marije and Pelzer, Nadine and Ferrari, Michel and Van Den Maagdenberg, Arn and Zucca, Claudio and Franchini, Filippo and Vavassori, Rosaria and Giannotta, Melania and Gobbi, Giuseppe and Granata, Tiziana and Nardocci, Nardo and De Grandis, Elisa and Veneselli, Edvige and Stagnaro, Michela and Vigevano, Federico and Oechsler, Claudia and Nicole, Sophie and Ninan, Miriam and Neville, Brian and Ebinger, Friedrich and Fons, Carmen and Campistol, Jaume and Kemlink, David and Nevsimalova, Sona and Laan, Laura and Peeters-Scholte, Cacha and Casaer, Paul and Casari, Giorgio and Sange, Guenter and Spiel, Georg and Boneschi, Filippo Martinelli and Bassi, Maria Teresa and Schyns, Tsveta and Crawley, Francis and Poncelin, Dominique and European Alternating Hemiplegia and European Network Res Alternating and Biobanca Registro Clinico and European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium and European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium and Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1030 - 1034
Journal Article
Journal Article
Journal Article
American Journal of Neuroradiology, ISSN 0195-6108, 08/2009, Volume 30, Issue 7, pp. 1325 - 1327
Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal... 
NEUROIMAGING | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | CLINICAL NEUROLOGY | BRAIN IRON | Young Adult | Magnetic Resonance Imaging | Humans | Brain - pathology | Female | Gangliosidosis, GM1 - pathology | Male | Child
Journal Article
Neurology, ISSN 0028-3878, 06/2014, Volume 82, Issue 22, pp. 2037 - 2038
Mutations in the ATP1A3 gene, which encodes the alpha sub(3) subunit of sodium-potassium ATPase, are related to rapid-onset dystonia-parkinsonism (RDP) and,... 
ALTERNATING HEMIPLEGIA | CLINICAL NEUROLOGY | MUTATIONS | Dystonic Disorders - drug therapy | Flunarizine - pharmacology | Dystonic Disorders - genetics | Follow-Up Studies | Chorea - drug therapy | Humans | Adolescent | Chorea - etiology | Female | Treatment Outcome | Chorea - genetics | Dystonic Disorders - complications
Journal Article
Brain, ISSN 0006-8950, 10/2015, Volume 138, Issue 10, pp. 2859 - 2874
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 03/2018, Volume 22, Issue 2, pp. 264 - 271
Journal Article
14.