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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
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2018, Volume 13, Issue 1, pp. 1 - 3
Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur... 
Genotype & phenotype | Maternal & child health | Transthyretin | Amyotrophic lateral sclerosis | Amyloid | Amyloidosis | Neuropathy | Mutation | Polyneuropathy | TTR | CMT2
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2009, Volume 61, Issue 5, pp. 775 - 782
Journal Article
Journal Article
Cerebellum & ataxias, ISSN 2053-8871, 2018, Volume 5, Issue 1, pp. 7 - 5
Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can... 
Usage | Parkinson's disease | Huntington's chorea | Spinocerebellar ataxia | Causes of | Genetic aspects | Neurologic examination | Research | Diagnosis | Protein binding | SCA17 | TBP gene | Incomplete penetrance
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2016, Volume 39, pp. 218.e5 - 218.e8
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2012, Volume 33, Issue 8, pp. 1848.e15 - 1848.e20
Journal Article
by Bandres‐Ciga, Sara and Noyce, Alastair J and Hemani, Gibran and Nicolas, Aude and Calvo, Andrea and Mora, Gabriele and Arosio, Alessandro and Barberis, Marco and Bartolomei, Ilaria and Battistini, Stefania and Benigni, Michele and Borghero, Giuseppe and Brunetti, Maura and Calvo, Andrea and Cammarosano, Stefania and Cannas, Antonino and Canosa, Antonio and Capasso, Margherita and Caponnetto, Claudia and Caredda, Carla and Carrera, Paola and Casale, Federico and Cavallaro, Sebastiano and Chiò, Adriano and Colletti, Tiziana and Conforti, Francesca L and Conte, Amelia and Corrado, Lucia and Costantino, Emanuela and D'Alfonso, Sandra and Fasano, Antonio and Femiano, Cinzia and Ferrarese, Carlo and Fini, Nicola and Floris, Gianluca and Fuda, Giuseppe and Giannini, Fabio and Grassano, Maurizio and Ilardi, Antonio and La Bella, Vincenzo and Lattante, Serena and Logroscino, Giancarlo and Logullo, Francesco O and Loi, Daniela and Lunetta, Christian and Mancardi, Gianluigi and Mandich, Paola and Mandrioli, Jessica and Manera, Umberto and Marangi, Giuseppe and Marinou, Kalliopi and Marrali, Giuseppe and Marrosu, Maria Giovanna and Mazzini, Letizia and Melis, Maurizio and Messina, Sonia and Moglia, Cristina and Monsurro, Maria Rosaria and Mora, Gabriele and Mosca, Lorena and Occhineri, Patrizia and Origone, Paola and Pani, Carla and Penco, Silvana and Petrucci, Antonio and Piccirillo, Giovanni and Pirisi, Angelo and Pisano, Fabrizio and Pugliatti, Maura and Restagno, Gabriella and Ricci, Claudia and Rita Murru, Maria and Riva, Nilo and Sabatelli, Mario and Salvi, Fabrizio and Santarelli, Marialuisa and Sideri, Riccardo and Simone, Isabella and Spataro, Rossella and Tanel, Raffaella and Tedeschi, Gioacchino and Tranquilli, Stefania and Tremolizzo, Lucio and Trojsi, Francesca and Volanti, Paolo and Zollino, Marcella and Abramzon, Yevgeniya and Arepalli, Sampath and Baloh, Robert H and Bowser, Robert and Brady, Christopher B and Brice, Alexis and Broach, James and Campbell, Roy H and Camu, William and Chia, Ruth and Chiò, Adriano and Cooper‐Knock, John and Cusi, Daniele and Ding, Jinhui and ... and Int ALS Genomics Consortium and ITALSGEN Consortium and International ALS Genomics Consortium and The ITALSGEN Consortium and The International ALS Genomics Consortium
Annals of Neurology, ISSN 0364-5134, 04/2019, Volume 85, Issue 4, pp. 470 - 481
Journal Article