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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 Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2750 - 2753
Currarino syndrome (CS) is an autosomal dominant disorder of embryonic development characterized by the triad of anorectal abnormalities, partial sacral... 
HLXB9 | neuroendocrine tumor | Currarino syndrome | gene | pelvic mass | HLXB9 gene | Pelvic mass | Neuroendocrine tumor | PREMALIGNANT CONDITION | GENOTYPE | TRIAD | DOMINANT SACRAL AGENESIS | GENETICS & HEREDITY | PRESACRAL TERATOMA | MATURE TERATOMA | MUTATIONS | SPECTRUM | HOMEOBOX GENE | Uterus - pathology | Carcinoma, Neuroendocrine - diagnosis | Genetic Testing | Rectum - pathology | Humans | Sacrum - abnormalities | Mutation, Missense | Syringomyelia - pathology | Fatal Outcome | Adult | Female | Pelvis - pathology | Anal Canal - pathology | Syringomyelia - diagnosis | Sacrum - pathology | European Continental Ancestry Group - genetics | Genetic Association Studies | Digestive System Abnormalities - genetics | Uterus - abnormalities | Carcinoma, Neuroendocrine - genetics | Constipation - pathology | Transcription Factors - genetics | Homeodomain Proteins - genetics | Rectum - abnormalities | Anal Canal - abnormalities | Dermoid Cyst - pathology | Digestive System Abnormalities - diagnosis | Magnetic Resonance Imaging | Carcinoma, Neuroendocrine - pathology | Syringomyelia - genetics | Heterozygote | Digestive System Abnormalities - pathology | Transformation | Congenital defects | Anorectal | Ovaries | Pelvis | Hereditary diseases | Embryogenesis | Sacrum | Cysts | Uterus | Genetic analysis | Meninges | Mutation | Constipation | Neuroendocrine tumors | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 03/2012, Volume 78, Issue 10, pp. 690 - 695
Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The... 
HOMOZYGOSITY | ALLELE | OF-ONSET | GENE | LENGTH | MUTATION | CHROMOSOMES | CLINICAL NEUROLOGY | TRINUCLEOTIDE REPEAT | Humans | Age of Onset | Alleles | Huntington Disease - genetics | Adult | Female | Genotype | Huntington Disease - diagnosis | Male | Trinucleotide Repeat Expansion | Index Medicus | Abridged Index Medicus | 164
Journal Article
Journal Article