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1. Full Text Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders?
by Floris, Gianluca and Borghero, Giuseppe and Cannas, Antonino and Stefano, Francesca Di and Murru, Maria R and Corongiu, Daniela and Cuccu, Stefania and Tranquilli, Stefania and Marrosu, Maria G and Chiò, Adriano and Marrosu, Francesco
Journal of neurology, ISSN 0340-5354, 4/2013, Volume 260, Issue 4, pp. 1155 - 1157
Neurology | Neurosciences | Medicine & Public Health | Neuroradiology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Dementia - genetics | Technetium Tc 99m Exametazime | Frontotemporal Dementia - diagnostic imaging | Brain - diagnostic imaging | Humans | Middle Aged | Tomography, Emission-Computed, Single-Photon | Bipolar Disorder - complications | Male | Mutation - genetics | Bipolar Disorder - genetics | Proteins - genetics | Magnetic Resonance Imaging | Frontotemporal Dementia - complications | Bipolar Disorder - diagnostic imaging | Bipolar Disorder - pathology | Brain - pathology | C9orf72 Protein | Radiopharmaceuticals | Frontotemporal Dementia - pathology
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2. Full Text Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations
by Floris, Gianluca and Floris, Gianluca and Borghero, Giuseppe and Borghero, Giuseppe and Cannas, Antonino and Cannas, Antonino and Di Stefano, Francesca and Di Stefano, Francesca and Murru, Maria R and Murru, Maria R and Corongiu, Daniela and Corongiu, Daniela and Cuccu, Stefania and Cuccu, Stefania and Tranquilli, Stefania and Tranquilli, Stefania and Cherchi, Maria V and Cherchi, Maria V and Serra, Alessandra and Serra, Alessandra and Loi, Gianluigi and Loi, Gianluigi and Marrosu, Maria G and Marrosu, Maria G and Chiò, Adriano and Chiò, Adriano and Marrosu, Francesco and Marrosu, Francesco
Journal of neurology, ISSN 0340-5354, 2/2015, Volume 262, Issue 2, pp. 375 - 384
Neurology | Temporal lobe | Neurosciences | Medicine & Public Health | TARDBP | Frontotemporal dementia | Neuroradiology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Dementia - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Male | DNA-Binding Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Phenotype | Pedigree | Adult | Female | Aged | Mutation | Frontotemporal Dementia - pathology | Gene mutations | Genetic aspects | Diagnosis | Research | Health aspects | Risk factors | Dementia | Index Medicus
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3. Full Text C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson’s disease complicated by psychosis or dementia in a Sardinian population
by Cannas, Antonino and Solla, Paolo and Borghero, Giuseppe and Floris, Gian Luca and Chio, Adriano and Mascia, Marcello Mario and Modugno, Nicola and Muroni, Antonella and Orofino, Gianni and Di Stefano, Francesca and Calvo, Andrea and Moglia, Cristina and Restagno, Gabriella and Meloni, Mario and Farris, Rita and Ciaccio, Daniela and Puddu, Roberta and Vacca, Melisa Iris and Melis, Rosanna and Murru, Maria Rita and Tranquilli, Stefania and Corongiu, Daniela and Rolesu, Marcella and Cuccu, Stefania and Marrosu, Maria Giovanna and Marrosu, Francesco
Journal of neurology, ISSN 0340-5354, 11/2015, Volume 262, Issue 11, pp. 2498 - 2503
Neurology | Neurosciences | Medicine & Public Health | Atypical parkinsonian syndromes | C9ORF72 short expansion | Neuroradiology | Parkinson’s disease | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Comorbidity | Humans | Middle Aged | Parkinsonian Disorders - epidemiology | Male | Dementia - epidemiology | Parkinson Disease - genetics | Psychotic Disorders - epidemiology | Dementia - genetics | Proteins - genetics | DNA Repeat Expansion | Psychotic Disorders - genetics | Aged, 80 and over | Parkinson Disease - epidemiology | Adult | Female | Italy - epidemiology | Parkinsonian Disorders - genetics | Aged | C9orf72 Protein | Complications and side effects | Parkinson's disease | Psychoses | Genes | Physiological aspects | Genetic aspects | Research | Risk factors | Index Medicus
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4. Full Text Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
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
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Mendelian Randomization Analysis - methods | Multifactorial Inheritance - genetics | Genetic Predisposition to Disease - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Amyotrophic Lateral Sclerosis - diagnosis | Exercise - physiology | Genetic Predisposition to Disease - epidemiology | Genome-Wide Association Study - methods | Amyotrophic Lateral Sclerosis - epidemiology | Correlation | Profiling | Physical activity | Hyperlipidemia | Linkage disequilibrium | Cognitive ability | Amyotrophic lateral sclerosis | Genomes | Regression analysis | Risk analysis | Cholesterol | Risk factors | Educational attainment | Randomization | Education | Genetic analysis | Genetic factors | Risk management | Light levels | Polygenic inheritance | Bayesian analysis | Smoking | Index Medicus | Life Sciences | Neuroscience | Amyotrophic Lateral Sclerosis | Genome-Wide Association Study / methods | Genetic Predisposition to Disease / genetics | Genetics | Santé publique et épidémiologie | Mendolian Randomization Analysis / methods | Cognitive science | Human genetics
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5. Full Text TBK1 is associated with ALS and ALS-FTD in Sardinian patients
by Borghero, Giuseppe and Pugliatti, Maura and Marrosu, Francesco and Marrosu, Maria Giovanna and Murru, Maria Rita and Floris, Gianluca and Cannas, Antonino and Occhineri, Patrizia and Cau, Tea B and Loi, Daniela and Ticca, Anna and Traccis, Sebastiano and Manera, Umberto and Canosa, Antonio and Moglia, Cristina and Calvo, Andrea and Barberis, Marco and Brunetti, Maura and Gibbs, J. Raphael and Renton, Alan E and Errichiello, Edoardo and Zoledziewska, Magdalena and Mulas, Antonella and Qian, Yong and Din, Jun and Pliner, Hannah A and Traynor, Bryan J and Chiò, Adriano and ITALSGEN and SARDINALS Consortia and ITALSGEN and SARDINALS Consortia
Neurobiology of aging, ISSN 0197-4580, 2016, Volume 43, pp. 180.e1 - 180.e5
Neurology | Internal Medicine | Amyotrophic lateral sclerosis | Genetics | TBK1 | Sporadic | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Frontotemporal Dementia - genetics | Genetic Association Studies | Amyotrophic Lateral Sclerosis - genetics | Humans | Protein-Serine-Threonine Kinases | Female | Italy | Male | Aged | Mutation | Cohort Studies | Nucleotide sequencing | Analysis | Genomics | DNA sequencing | Index Medicus
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6. Full Text ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
by Chiò, Adriano and Mora, Gabriele and Sabatelli, Mario and Caponnetto, Claudia and Lunetta, Christian and Traynor, Bryan J and Johnson, Janel O and Nalls, Mike A and Calvo, Andrea and Moglia, Cristina and Borghero, Giuseppe and Trojsi, Francesca and La Bella, Vincenzo and Volanti, Paolo and Simone, Isabella and Salvi, Fabrizio and Logullo, Francesco O and Riva, Nilo and Carrera, Paola and Giannini, Fabio and Mandrioli, Jessica and Tanel, Raffaella and Capasso, Margherita and Tremolizzo, Lucio and Battistini, Stefania and Murru, Maria Rita and Origone, Paola and Zollino, Marcella and Penco, Silvana and Mazzini, Letizia and D'Alfonso, Sandra and Restagno, Gabriella and Brunetti, Maura and Barberis, Marco and Conforti, Francesca L and ITALSGEN consortium and SARDINIALS consortium and SARDINIALS Consortium and ITALSGEN Consortium
Neurobiology of aging, ISSN 0197-4580, 2015, Volume 39, pp. 218.e5 - 218.e8
Neurology | Internal Medicine | Amyotrophic lateral sclerosis | Phenotype | ATXN2 | C9ORF72 | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Proteins - genetics | Genetic Association Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Female | Italy | Male | Aged | C9orf72 Protein | Ataxin-2 - genetics | Genetic research | Genetic aspects | Genes | Index Medicus
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7. Full Text ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry
by Borghero, Giuseppe and Pugliatti, Maura and Marrosu, Francesco and Marrosu, Maria Giovanna and Murru, Maria Rita and Floris, Gianluca and Cannas, Antonino and Parish, Leslie D and Cau, Tea B and Loi, Daniela and Ticca, Anna and Traccis, Sebastiano and Manera, Umberto and Canosa, Antonio and Moglia, Cristina and Calvo, Andrea and Barberis, Marco and Brunetti, Maura and Renton, Alan E and Nalls, Mike A and Traynor, Bryan J and Restagno, Gabriella and Chiò, Adriano and ITALSGEN and SARDINALS consortia and ITALSGEN SARDINALS Consortia
Neurobiology of aging, ISSN 0197-4580, 2015, Volume 36, Issue 10, pp. 2906.e1 - 2906.e5
Neurology | Internal Medicine | Ataxin 2 gene | Amyotrophic lateral sclerosis | Genetic modifier | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Genetic Association Studies | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Risk Factors | Male | Survival Rate | Amyotrophic Lateral Sclerosis - mortality | Ataxin-2 - genetics | Phenotype | Trinucleotide Repeat Expansion - genetics | Female | Italy | Multiple sclerosis | Genetic aspects | Molecular genetics | Index Medicus | ALS
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8. Full Text HFE p.H63D polymorphism does not influence ALS phenotype and survival
by Chiò, Adriano and Mora, Gabriele and Sabatelli, Mario and Caponnetto, Claudia and Lunetta, Christian and Traynor, Bryan J and Johnson, Janel O and Nalls, Mike A and Calvo, Andrea and Moglia, Cristina and Borghero, Giuseppe and Monsurrò, Maria Rosaria and La Bella, Vincenzo and Volanti, Paolo and Simone, Isabella and Salvi, Fabrizio and Logullo, Francesco O and Nilo, Riva and Giannini, Fabio and Mandrioli, Jessica and Tanel, Raffaella and Murru, Maria Rita and Mandich, Paola and Zollino, Marcella and Conforti, Francesca L and Penco, Silvana and Brunetti, Maura and Barberis, Marco and Restagno, Gabriella and ITALSGEN consortium and SARDINIALS consortium and SARDINIALS Consortium and ITALSGEN Consortium
Neurobiology of aging, ISSN 0197-4580, 2015, Volume 36, Issue 10, pp. 2906.e7 - 2906.e11
Neurology | Internal Medicine | phenotype | Amyotrophic lateral sclerosis | HFE polymorphisms | survival | SOD1 | Phenotype | Survival | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Superoxide Dismutase - genetics | Genetic Association Studies | Hemochromatosis Protein | Membrane Proteins - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Male | Survival Rate | Histocompatibility Antigens Class I - genetics | Disease Progression | Amyotrophic Lateral Sclerosis - mortality | Animals | Alleles | Female | Italy - epidemiology | Polymorphism, Genetic - genetics | Aged | Mice | Superoxide Dismutase-1 | Genetic engineering | Genetic aspects | Molecular genetics | Analysis | Genetic polymorphisms | Index Medicus
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9. Tardbp ala382thr mutation in multiple sclerosis: A possible role in brain atrophy
by Lorefice, Lorena and Fenu, Giuseppe and Murru, Maria R and Sechi, Vincenzo and Frau, Jessica and Coghe, Giancarlo and Cuccu, Stefania and Tranquilli, Stefania and Cocco, Eleonora and Marrosu, Maria G
Current medical imaging reviews, ISSN 1573-4056, 2018, Volume 14, Issue 1, pp. 95 - 98
Whole brain | Multiple sclerosis | TARDBP Ala382Thr mutation | Neurodegeneration | White matter | Brain atrophy | Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Brain | Neurodegenerative diseases | Pathogenesis | Central nervous system | Colleges & universities | Inflammation | Substantia alba | Substantia grisea | Patients | Neurological diseases | Atrophy | Magnetic resonance imaging | Demyelination | Mutation
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10. Full Text The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms
by Cannas, Antonino and Borghero, Giuseppe and Floris, Gian Luca and Solla, Paolo and Chiò, Adriano and Traynor, Bryan J and Calvo, Andrea and Restagno, Gabriella and Majounie, Elisa and Costantino, Emanuela and Piras, Valeria and Lavra, Loredana and Pani, Carla and Orofino, Gianni and Di Stefano, Francesca and Tacconi, Paolo and Mascia, Marcello Mario and Muroni, Antonella and Murru, Maria Rita and Tranquilli, Stefania and Corongiu, Daniela and Rolesu, Marcella and Cuccu, Stefania and Marrosu, Francesco and Marrosu, Maria Giovanna
Neurogenetics, ISSN 1364-6745, 5/2013, Volume 14, Issue 2, pp. 161 - 166
Human Genetics | Neurosciences | Biomedicine | TDP-43 proteinopathies | Sardinia | Molecular Medicine | TARDBP gene mutation | Degenerative parkinsonism | Clinical Neurology | Genetics & Heredity | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Genotype | Male | Parkinson Disease - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Genetic Testing - methods | Phenotype | Female | Italy | Aged | Genetic research | Genetic aspects | Parkinson's disease | Gene mutations | Genes | Mutation | Neurodegeneration | Parkinsons disease | Index Medicus | TDP-43 Proteinopathies | degenerative parkinsonism
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