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by Nicolas, Aude and Kenna, Kevin P and Kenna, Aoife and Kenna, Kevin and Kenna, Brendan J and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A and van Vugt, Joke and van Vugt, Joke J.F.A and Geiger, Joshua T and Van der Spek, Rick A and Pliner, Hannah A and Shankaracharya and Smith, Bradley N and Marangi, Giuseppe and Topp, Simon D and Abramzon, Yevgeniya and Gkazi, Athina Soragia and Eicher, John D and Logullo, Francesco O and Simone, Isabella and Simone, Isabella L and Logroscino, Giancarlo and Salvi, Fabrizio and Bartolomei, Ilaria and Borghero, Giuseppe and Murru, Maria Rita and Costantino, Emanuela and Pani, Carla and Puddu, Roberta and Caredda, Carla and Piras, Valeria and Tranquilli, Stefania and Cuccu, Stefania and Corongiu, Daniela and Melis, Maurizio and Milia, Antonio and Marrosu, Francesco and Marrosu, Maria Giovanna and Floris, Gianluca and Cannas, Antonino and Capasso, Margherita and Caponnetto, Claudia and Mancardi, Gianluigi and Origone, Paola and Mandich, Paola and Conforti, Francesca L and Cavallaro, Sebastiano and Mora, Gabriele and Mora, Jesús S and Marinou, Kalliopi and Sideri, Riccardo and Penco, Silvana and Mosca, Lorena and Lunetta, Christian and Pinter, Giuseppe Lauria and Corbo, Massimo and Riva, Nilo and Carrera, Paola and Volanti, Paolo and Mandrioli, Jessica and Fini, Nicola and Fasano, Antonio and Tremolizzo, Lucio and Arosio, Alessandro and Ferrarese, Carlo and Trojsi, Francesca and Tedeschi, Gioacchino and Monsurrò, Maria Rosaria and Piccirillo, Giovanni and Femiano, Cinzia and Ticca, Anna and Ortu, Enzo and La Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Sabatelli, Mario and Zollino, Marcella and Conte, Amelia and Luigetti, Marco and Lattante, Serena and Santarelli, Marialuisa and Petrucci, Antonio and Pugliatti, Maura and Pirisi, Angelo and Parish, Leslie D and Occhineri, Patrizia and Giannini, Fabio and Battistini, Stefania and Ricci, Claudia and Benigni, Michele and Cau, Tea B and ... and Genomic Translation ALS Care GTAC and ALS Sequencing Consortium and Clinical Res ALS Related Disorders and NYGC ALS Consortium and ITALSGEN Consortium and SLAGEN Consortium and French ALS Consortium and Project MinE ALS Sequencing Consor and Answer ALS Fdn and Project MinE ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Umeå universitet
Neuron, ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
Journal Article
by Smith, Bradley N and Ticozzi, Nicola and Fallini, Claudia and Gkazi, Athina Soragia and Topp, Simon and Kenna, Kevin P and Scotter, Emma L and Kost, Jason and Keagle, Pamela and Miller, Jack W and Calini, Daniela and Vance, Caroline and Danielson, Eric W and Troakes, Claire and Tiloca, Cinzia and Al-Sarraj, Safa and Lewis, Elizabeth A and King, Andrew and Colombrita, Claudia and Pensato, Viviana and Castellotti, Barbara and de Belleroche, Jacqueline and Baas, Frank and ten Asbroek, Anneloor LMA and Sapp, Peter C and McKenna-Yasek, Diane and McLaughlin, Russell L and Polak, Meraida and Asress, Seneshaw and Esteban-Pérez, Jesús and Muñoz-Blanco, José Luis and Simpson, Michael and D’Alfonso, Sandra and Mazzini, Letizia and Comi, Giacomo P and Del Bo, Roberto and Ceroni, Mauro and Gagliardi, Stella and Querin, Giorgia and Bertolin, Cinzia and van Rheenen, Wouter and Diekstra, Frank P and Lauria, Giuseppe and Duga, Stefano and Corti, Stefania and Cereda, Cristina and Corrado, Lucia and Sorarù, Gianni and Morrison, Karen E and Williams, Kelly L and Nicholson, Garth A and Blair, Ian P and Dion, Patrick A and Leblond, Claire S and Rouleau, Guy A and Hardiman, Orla and Veldink, Jan H and van den Berg, Leonard H and Al-Chalabi, Ammar and Pall, Hardev and Shaw, Christopher E and Shaw, Pamela J and Turner, Martin R and Talbot, Kevin and Taroni, Franco and García-Redondo, Alberto and Wu, Zheyang and Glass, Jonathan D and Gellera, Cinzia and Ratti, Antonia and Brown, Robert H and Silani, Vincenzo and Landers, John E and SLAGEN Consortium
Neuron, ISSN 0896-6273, 10/2014, Volume 84, Issue 2, pp. 324 - 331
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2010, Volume 42, Issue 4, pp. 313 - 321
Journal Article
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 07/2019, pp. 1 - 11
Mutations in the thyroid hormone transporter MCT8 cause severe intellectual and motor disability and abnormal serum thyroid function tests, a syndrome known as... 
Phenotypes | Basal ganglia | Trafficking | Thyroid gland | Hypothyroidism | Ganglia | Proteins | Genotype & phenotype | Genetic analysis | Fibroblasts | Mutation | Transporter | Thyroid
Journal Article
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2013, Volume 84, Issue 2, pp. 183 - 187
Journal Article