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1. Full Text CSF neurofilament proteins as diagnostic and prognostic biomarkers for amyotrophic lateral sclerosis
by Rossi, Daniela and Volanti, Paolo and Brambilla, Liliana and Colletti, Tiziana and Spataro, Rossella and La Bella, Vincenzo
Journal of Neurology, ISSN 0340-5354, 3/2018, Volume 265, Issue 3, pp. 510 - 521
Elevated cerebrospinal fluid (CSF), Neurofilament Light (NF-L) and phosphorylated Heavy (pNF-H) chain levels have been found in Amyotrophic Lateral Sclerosis... 
Neurology | Neurosciences | NF-L | Medicine & Public Health | Disease progression | CSF | ALS | Neurofilaments | pNF-H | Neuroradiology | DIFFERENTIAL-DIAGNOSIS | LIGHT-CHAIN | DISEASE SEVERITY | MARKERS | CONSENSUS | CEREBROSPINAL-FLUID | ALSFRS-R | CLINICAL NEUROLOGY | DEGENERATION | RATING-SCALE | PROGRESSION | Cytoplasmic filaments | Analysis | Amyotrophic lateral sclerosis | Development and progression | Diagnosis | Research | Biological markers | Neurological diseases | Disease | Biomarkers | Cytotoxicity | Lymphocytes T | Cerebrospinal fluid | Enzyme-linked immunosorbent assay | Inflammatory diseases | Tumors
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2. 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 | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Neurovetenskaper
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3. Full Text Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
by Johnson, Janel O and Pioro, Erik P and Boehringer, Ashley and Chia, Ruth and Feit, Howard and Renton, Alan E and Pliner, Hannah A and Abramzon, Yevgeniya and Marangi, Giuseppe and Winborn, Brett J and Gibbs, J. Raphael and Nalls, Michael A and Morgan, Sarah and Shoai, Maryam and Hardy, John and Pittman, Alan and Orrell, Richard W and Malaspina, Andrea and Sidle, Katie C and Fratta, Pietro and Harms, Matthew B and Baloh, Robert H and Pestronk, Alan and Weihl, Conrad C and Rogaeva, Ekaterina and Zinman, Lorne and Drory, Vivian E and Borghero, Giuseppe and Mora, Gabriele and Calvo, Andrea and Rothstein, Jeffrey D and Drepper, Carsten and Sendtner, Michael and Singleton, Andrew B and Taylor, J Paul and Cookson, Mark R and Restagno, Gabriella and Sabatelli, Mario and Bowser, Robert and Chio`, Adriano and Traynor, Bryan J and Moglia, Cristina and Cammarosano, Stefania and Canosa, Antonio and Gallo, Sara and Brunetti, Maura and Ossola, Irene and Marinou, Kalliopi and Papetti, Laura and Pisano, Fabrizio and Pinter, Giuseppe Lauria and Conte, Amelia and Luigetti, Marco and Zollino, Marcella and Lattante, Serena and Marangi, Giuseppe and la Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Battistini, Stefania and Ricci, Claudia and Caponnetto, Claudia and Mancardi, Gianluigi and Mandich, Paola and Salvi, Fabrizio and Bartolomei, Ilaria and Mandrioli, Jessica and Sola, Patrizia and Lunetta, Christian and Penco, Silvana and Monsurrò, Maria Rosaria and Conforti, Francesca Luisa and Tedeschi, Gioacchino and Gambardella, Antonio and Quattrone, Aldo and Volanti, Paolo and Floris, Gianluca and Cannas, Antonino and Piras, Valeria and Marrosu, Francesco and Marrosu, Maria Giovanna and Murru, Maria Rita and Pugliatti, Maura and Parish, Leslie D and Sotgiu, Alessandra and Solinas, Giuliana and Ulgheri, Lucia and Ticca, Anna and Simone, Isabella and Logroscino, Giancarlo and Pirisi, Angelo and ITALSGEN
Nature Neuroscience, ISSN 1097-6256, 2014, Volume 17, Issue 5, pp. 664 - 666
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal... 
DOMINANT DISTAL MYOPATHY | ALS | PROTEIN | NUCLEAR-MATRIX | NEUROSCIENCES | COMPLEXES | RNA-Binding Proteins - genetics | Genetic Predisposition to Disease - genetics | Spinal Cord - metabolism | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Computational Biology | Nuclear Matrix-Associated Proteins - metabolism | Family Health | Genotype | Male | Muscle, Skeletal - metabolism | Mutation - genetics | DNA-Binding Proteins - metabolism | Amyotrophic Lateral Sclerosis - pathology | Neurologic Examination | Nuclear Matrix-Associated Proteins - genetics | DNA Mutational Analysis | Spinal Cord - pathology | Aged, 80 and over | Female | Aged | Muscle, Skeletal - pathology | RNA-Binding Proteins - metabolism | Gene mutations | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Research | Neurological research | Neurophysiology
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4. Full Text PrEP in Italy: The time may be ripe but who's paying the bill? A nationwide survey on physicians' attitudes towards using antiretrovirals to prevent HIV infection
by Di Biagio, A and Riccardi, N and Signori, A and Maserati, R and Nozza, S and Gori, A and Bonora, S and Borderi, M and Ripamonti, D and Rossi, MC and Orofino, G and Quirino, T and Nunnari, G and Celesia, BM and Martini, S and Sagnelli, C and Mazzola, G and Colletti, P and Bartolozzi, D and Bini, T and Ladisa, N and Castelnuovo, F and Saracino, A and Lo Caputo, S
PLOS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181433
Several studies have demonstrated the efficacy of the oral pre-exposure prophylaxis (PrEP) with tenofovir (with or without emtricitabine) on preventing... 
TRIAL | AFRICAN WOMEN | THERAPY | MULTIDISCIPLINARY SCIENCES | KNOWLEDGE | MEN | RISK | PREEXPOSURE PROPHYLAXIS | TENOFOVIR | Anti-HIV Agents - economics | HIV Infections - prevention & control | Cross-Sectional Studies | HIV Infections - economics | Anti-HIV Agents - adverse effects | Humans | Risk | Health Knowledge, Attitudes, Practice | Pre-Exposure Prophylaxis - economics | Anti-HIV Agents - therapeutic use | Italy | Surveys and Questionnaires | Physicians - psychology | Surveys | Prevention | Medicine | Antiviral agents | Disease transmission | Physicians | Beliefs, opinions and attitudes | Practice | Health aspects | Ethical aspects | Health care | Medical personnel | Emtricitabine | Health | Prophylaxis | Health risks | Infections | FDA approval | Antiretroviral therapy | Training | Disease prevention | Tenofovir | Ethics | Side effects | Acquired immune deficiency syndrome--AIDS | Antiretroviral agents | Human immunodeficiency virus--HIV | Health risk assessment | Cross sections | AIDS | HIV | Acquired immune deficiency syndrome | Human immunodeficiency virus
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5. Full Text Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
by Majounie, Elisa, PhD and Renton, Alan E, PhD and Mok, Kin, MSc and Dopper, Elise GP and Waite, Adrian, PhD and Rollinson, Sara, PhD and Chiò, Adriano, MD and Restagno, Gabriella, MD and Nicolaou, Nayia, MSc and Simon-Sanchez, Javier, PhD and van Swieten, John C, Prof and Abramzon, Yevgeniya and Johnson, Janel O, PhD and Sendtner, Michael, Prof and Pamphlett, Roger, MD and Orrell, Richard W, MD and Mead, Simon, MD and Sidle, Katie C, MD and Houlden, Henry, Prof and Rohrer, Jonathan D, MD and Morrison, Karen E, Prof and Pall, Hardev, MD and Talbot, Kevin, Prof and Ansorge, Olaf, MD and Hernandez, Dena G, MSc and Arepalli, Sampath, MS and Sabatelli, Mario, MD and Mora, Gabriele, MD and Corbo, Massimo, MD and Giannini, Fabio, MD and Calvo, Andrea, MD and Englund, Elisabet, MD and Borghero, Giuseppe, MD and Floris, Gian Luca, MD and Remes, Anne M, Prof and Laaksovirta, Hannu, MD and McCluskey, Leo, MD and Trojanowski, John Q, Prof and Van Deerlin, Vivianna M, MD and Schellenberg, Gerard D, Prof and Nalls, Michael A, PhD and Drory, Vivian E, MD and Lu, Chin-Song, Prof and Yeh, Tu-Hsueh, MD and Ishiura, Hiroyuki, MD and Takahashi, Yuji, MD and Tsuji, Shoji, Prof and Le Ber, Isabelle, MD and Brice, Alexis, Prof and Drepper, Carsten, PhD and Williams, Nigel, PhD and Kirby, Janine, PhD and Shaw, Pamela, Prof and Hardy, John, Prof and Tienari, Pentti J, MD and Heutink, Peter, Prof and Morris, Huw R, MD and Pickering-Brown, Stuart, Prof and Traynor, Bryan J, Dr and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large... 
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
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6. Full Text Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
by Chiò, Adriano and Borghero, Giuseppe and Restagno, Gabriella and Mora, Gabriele and Drepper, Carsten and Traynor, Bryan J and Sendtner, Michael and Brunetti, Maura and Ossola, Irene and Calvo, Andrea and Pugliatti, Maura and Sotgiu, Maria Alessandra and Murru, Maria Rita and Marrosu, Maria Giovanna and Marrosu, Francesco and Marinou, Kalliopi and Mandrioli, Jessica and Sola, Patrizia and Caponnetto, Claudia and Mancardi, Gianluigi and Mandich, Paola and La Bella, Vincenzo and Spataro, Rossella and Conte, Amelia and Monsurrò, Maria Rosaria and Tedeschi, Gioacchino and Pisano, Fabrizio and Bartolomei, Ilaria and Salvi, Fabrizio and Lauria Pinter, Giuseppe and Simone, Isabella and Logroscino, Giancarlo and Gambardella, Antonio and Quattrone, Aldo and Lunetta, Christian and Volanti, Paolo and Zollino, Marcella and Penco, Silvana and Battistini, Stefania and Renton, Alan E and Majounie, Elisa and Abramzon, Yevgeniya and Conforti, Francesca Luisa and Giannini, Fabio and Corbo, Massimo and Sabatelli, Mario and Moglia, Cristina and Cammarosano, Stefania and Fuda, Giuseppe and Canosa, Antonio and Gallo, Sara and Papetti, Laura and Luigetti, Marco and Lattante, Serena and Marangi, Giuseppe and Colletti, Tiziana and Ricci, Claudia and Origone, Paola and Floris, Gianluca and Cannas, Antonino and Piras, Valeria and Parish, Leslie D and Solinas, Giuliana and Ulgheri, Lucia and Ticca, Anna and Izzo, Francesco and Laiola, Anna and Trojsi, Francesca and ITALSGEN Consortium and ITALSGEN consortium and the ITALSGEN consortium
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 3, pp. 784 - 793
A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be... 
familial ALS, C9ORF72 gene | amyotrophic lateral sclerosis | phenotype-genotype correlation | POPULATION | C9ORF72 gene | DEMENTIA | DISEASE | FTD | TARDBP MUTATIONS | ALS | familial ALS | NEUROSCIENCES | CLINICAL NEUROLOGY | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Parents | Male | Sex Characteristics | Mutation - genetics | DNA - genetics | Proteins - genetics | DNA Repeat Expansion | Amyotrophic Lateral Sclerosis - pathology | Phenotype | Pedigree | Age of Onset | Survival Analysis | Adult | Female | Italy | Aged | C9orf72 Protein | Cohort Studies | phenotype–genotype correlation | Original
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7. Full Text PrEP in Italy: The time may be ripe but who’s paying the bill? A nationwide survey on physicians’ attitudes towards using antiretrovirals to prevent HIV infection
by Di Biagio, Antonio and Riccardi, Niccolò and Signori, Alessio and Maserati, Renato and Nozza, Silvia and Gori, Andrea and Bonora, Stefano and Borderi, Marco and Ripamonti, Diego and Rossi, Maria Cristina and Orofino, Giancarlo and Quirino, Tiziana and Nunnari, Giuseppe and Celesia, Benedetto Maurizio and Martini, Salvatore and Sagnelli, Caterina and Mazzola, Giovanni and Colletti, Pietro and Bartolozzi, Dario and Bini, Teresa and Ladisa, Nicoletta and Castelnuovo, Filippo and Saracino, Annalisa and Lo Caputo, Sergio
PLoS ONE, 07/2017, Volume 12, Issue 7
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8. Full Text Plasma cortisol level in amyotrophic lateral sclerosis
by Spataro, Rossella and Volanti, Paolo and Vitale, Francesco and Meli, Francesco and Colletti, Tiziana and Di Natale, Antonino and La Bella, Vincenzo
Journal of the Neurological Sciences, ISSN 0022-510X, 2015, Volume 358, Issue 1, pp. 282 - 286
Abstract Background . Amyotrophic Lateral sclerosis (ALS) is associated with a significant distress, being linked to changes in hypothalamic–pituitary–adrenal... 
Neurology | ALS | Biomarker | Cortisol | ALSFRS-R | Disease progression | SURVIVAL | SYSTEM | POPULATION | DIAGNOSIS | MODEL | NEUROSCIENCES | CLINICAL NEUROLOGY | BIOMARKERS | STRESS | Humans | Middle Aged | Female | Male | Aged | Biomarkers - blood | Amyotrophic Lateral Sclerosis - blood | Circadian Rhythm | Hydrocortisone - blood | Disease Progression | Development and progression | Amyotrophic lateral sclerosis | Corticosteroids | Mental illness
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9. Full Text Ataxin-1 and ataxin-2 intermediate-length polyQ expansions in amyotrophic lateral sclerosis
by Conforti, Francesca L and Spataro, Rossella and Sproviero, William and Mazzei, Rosalucia and Cavalcanti, Francesca and Condino, Francesca and Simone, Isabella L and Logroscino, Giancarlo and Patitucci, Alessandra and Magariello, Angela and Muglia, Maria and Rodolico, Carmelo and Valentino, Paola and Bono, Francesco and Colletti, Tiziana and Monsurrò, Maria R and Gambardella, Antonio and La Bella, Vincenzo
Neurology, ISSN 0028-3878, 12/2012, Volume 79, Issue 24, pp. 2315 - 2320
Objective: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic... 
PROTEIN | ALS | RISK | POLYGLUTAMINE EXPANSIONS | HEXANUCLEOTIDE REPEAT | C9ORF72 | CLINICAL NEUROLOGY | Ataxin-1 | Genetic Predisposition to Disease | Age Factors | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Risk Factors | Peptides - genetics | Genotype | Male | Nerve Tissue Proteins - genetics | Trinucleotide Repeat Expansion | Ataxins | Age of Onset | Alleles | Aged, 80 and over | Adult | Female | Italy | Aged | Nuclear Proteins - genetics
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