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1. Full Text Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
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
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases... 
WGS | GWAS | WES | KIF5A | ALS | axonal transport | cargo | MOTOR-NEURONS | TARGETED DISRUPTION | GENOTYPE IMPUTATION | DNA-DAMAGE | AXONAL-TRANSPORT | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | KINESIN HEAVY-CHAIN | HEXANUCLEOTIDE REPEAT | NEUROSCIENCES | FAMILIAL ALS | Genetic research | Genes | Analysis | Genomics | Phenotypes | Disease | Neurodegenerative diseases | Pathogenesis | Homeostasis | Amyotrophic lateral sclerosis | Genomes | Risk factors | Consortia | Hereditary spastic paraplegia | Proteins | Paraplegia | Charcot-Marie-Tooth disease | Cytoskeleton | Mutation | Spastic paraplegia | Index Medicus | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Neurovetenskaper
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2. 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 | HEXANUCLEOTIDE REPEAT EXPANSION | ALS | LOBAR DEGENERATION | CLINICAL NEUROLOGY | FTD | 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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3. 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 SARDINIALS Consortium and ITALSGEN Consortium and ITALSGEN consortium and SARDINIALS consortium
Neurobiology of Aging, ISSN 0197-4580, 2016, Volume 39, pp. 218.e5 - 218.e8
Abstract There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic... 
Neurology | Internal Medicine | Amyotrophic lateral sclerosis | Phenotype | ATXN2 | C9ORF72 | REPEAT EXPANSIONS | FRONTOTEMPORAL DEMENTIA | SIZE | ALS | CARRIERS | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | 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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4. 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
Abstract Recently, mutations in the TANK-binding kinase 1 ( TBK1 ) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without... 
Neurology | Internal Medicine | Amyotrophic lateral sclerosis | Genetics | TBK1 | Sporadic | AMYOTROPHIC-LATERAL-SCLEROSIS | SEQUENCING DATA | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | 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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5. 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, A and Solla, P and Borghero, G and Floris, GL and Chio, A and Mascia, MM and Modugno, N and Muroni, A and Orofino, G and Di Stefano, F and Calvo, A and Moglia, C and Restagno, G and Meloni, M and Farris, R and Ciaccio, D and Puddu, R and Vacca, MI and Melis, R and Murru, MR and Tranquilli, S and Corongiu, D and Rolesu, M and Cuccu, S and Marrosu, MG and Marrosu, F
JOURNAL OF NEUROLOGY, ISSN 0340-5354, 11/2015, Volume 262, Issue 11, pp. 2498 - 2503
The hexanucleotide repeat expansion GGGGCC in the C9ORF72 gene larger than 30 repeats has been identified as a major genetic cause of amyotrophic lateral... 
C9ORF72 short expansion | Parkinson's disease | Atypical parkinsonian syndromes | CLINICAL NEUROLOGY | 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 | Psychoses | Genes | Physiological aspects | Genetic aspects | Research | Risk factors | Index Medicus
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6. Full Text Vitamin D responsive elements within the HLA-DRB1 promoter region in sardinian multiple sclerosis associated alleles
by Cocco, Eleonora and Meloni, Alessandra and Murru, Maria Rita and Corongiu, Daniela and Tranquilli, Stefania and Fadda, Elisabetta and Murru, Raffaele and Schirru, Lucia and Secci, Maria Antonietta and Costa, Gianna and Asunis, Isadora and Cuccu, Stefania and Fenu, Giuseppe and Lorefice, Lorena and Carboni, Nicola and Mura, Gioia and Rosatelli, Maria Cristina and Marrosu, Maria Giovanna
PLoS ONE, ISSN 1932-6203, 07/2012, Volume 7, Issue 7, pp. e41678 - e41678
Vitamin D response elements (VDREs) have been found in the promoter region of the MS-associated allele HLA-DRB1*15:01, suggesting that with low vitamin D... 
POPULATION | EXPERIMENTAL AUTOIMMUNE ENCEPHALOMYELITIS | MULTIDISCIPLINARY SCIENCES | GENES | SERUM 25-HYDROXYVITAMIN-D | NEGATIVE SELECTION | BINDING-PROTEIN | RISK | D-RECEPTOR | BIRTH | D-3 | Genetic Predisposition to Disease - genetics | Transcriptional Activation - genetics | HLA-DRB1 Chains - genetics | Humans | Computational Biology | Molecular Sequence Data | Male | Multiple Sclerosis - genetics | Receptors, Calcitriol - metabolism | Vitamin D Response Element - genetics | Sequence Analysis, DNA | Case-Control Studies | Base Sequence | Alleles | Adult | Female | Italy | Allelomorphism | Autoimmunity | Multiple sclerosis | Histocompatibility antigens | Vitamin D | HLA histocompatibility antigens | Monoclonal antibodies | Calcifediol | Disease susceptibility | Alfacalcidol | T cells | Gene expression | Haplotypes | Transcription | Lymphocytes T | Genomes | Insulin-like growth factors | Regulatory sequences | Sclerosis | Thymus | Proteins | Clonal deletion | Deletion | Drb1 protein | Population | Solar radiation | Radiation effects | Retinoid X receptors | Patients | Electrophoretic mobility | Histocompatibility antigen HLA | Diabetes | Vitamin D receptors | Autoimmune diseases | 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 SARDINALS Consortia and ITALSGEN and SARDINALS consortia
Neurobiology of Aging, ISSN 0197-4580, 2015, Volume 36, Issue 10, pp. 2906.e1 - 2906.e5
Abstract Intermediate-length CAG expansions (encoding 27–33 glutamines, polyQ) of the Ataxin2 ( ATXN2 ) gene represent a risk factor for amyotrophic lateral... 
Neurology | Internal Medicine | Ataxin 2 gene | Amyotrophic lateral sclerosis | Genetic modifier | HEXANUCLEOTIDE REPEAT EXPANSION | AMYOTROPHIC-LATERAL-SCLEROSIS | C9ORF72 | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | 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 | Neurosciences | Genetic aspects | Molecular genetics | Index Medicus | ALS
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8. 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
Background: Multiple Sclerosis (MS) is a chronic multifactorial disease of the central nervous system, specifically characterized by inflammatory demyelination... 
Whole brain | Multiple sclerosis | TARDBP Ala382Thr mutation | Neurodegeneration | White matter | Brain atrophy | white matter | DEMYELINATION | brain atrophy | whole brain | neurodegeneration | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | 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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9. 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
Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression and... 
PROTECTIVE FACTOR | ALZHEIMERS-DISEASE | BIAS | CARDIOVASCULAR-DISEASE | MENDELIAN RANDOMIZATION | CHOLESTEROL HOMEOSTASIS | DYSLIPIDEMIA | LD SCORE REGRESSION | NEUROSCIENCES | CLINICAL NEUROLOGY | Correlation | Profiling | Physical activity | Hyperlipidemia | Linkage disequilibrium | Cognitive ability | Amyotrophic lateral sclerosis | Genomes | Regression analysis | Risk analysis | Cholesterol | Sclerosis | Risk factors | Educational attainment | Randomization | Education | Genetic analysis | Genetic factors | Risk management | Light levels | Polygenic inheritance | Bayesian analysis | Smoking
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10. 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 SARDINIALS Consortium and ITALSGEN Consortium and ITALSGEN consortium and SARDINIALS consortium
Neurobiology of Aging, ISSN 0197-4580, 2015, Volume 36, Issue 10, pp. 2906.e7 - 2906.e11
Abstract It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and... 
Neurology | Internal Medicine | phenotype | Amyotrophic lateral sclerosis | HFE polymorphisms | survival | SOD1 | Phenotype | Survival | GENE | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | ASSOCIATION | NEUROSCIENCES | HEMOCHROMATOSIS | GERIATRICS & GERONTOLOGY | 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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