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1. Full Text Changes in the sex ratio are a good indicator of changes in multiple sclerosis incidence ā€“ Commentary
by Pugliatti, Maura
Multiple Sclerosis Journal, ISSN 1352-4585, 2019, pp. 1352458519845114 - 1352458519845114
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2. Full Text People with MS should consume a low-salt diet ā€“ Commentary
by Pugliatti, Maura
Multiple Sclerosis Journal, ISSN 1352-4585, 12/2016, Volume 22, Issue 14, pp. 1781 - 1782
INDUCTION | NEUROSCIENCES | CLINICAL NEUROLOGY | PATHOGENIC T(H)17 CELLS | DISEASE | Index Medicus
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3. Full Text Preventing progression and disability in MSā€”when to treat?
by Pugliatti, Maura
Nature Reviews Neurology, ISSN 1759-4758, 03/2013, Volume 9, Issue 3, pp. 129 - 130
Pugliatti, M. Nat. Rev. Neurol. 9, 129-130 (2013); published online 19 February 2013; doi: 10.1038/nrneurol.2013.28 
Development and progression | Multiple sclerosis | Research | Patient outcomes
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4. 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, JesĆŗs 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 MonsurrĆ², 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 fƶr farmakologi och klinisk neurovetenskap and UmeĆ„ 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 hƤlsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Neurovetenskaper
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5. Full Text Multiple sclerosis: Preventing progression and disability in MS - When to treat?
by Pugliatti, Maura
Nature Reviews Neurology, ISSN 1759-4758, 03/2013, Volume 9, Issue 3, pp. 129 - 130
In relapsing-remitting multiple sclerosis, conversion to the progressive stage is thought to be influenced by early relapses. Despite a new study suggesting... 
NATURAL-HISTORY | RELAPSES | CLINICAL NEUROLOGY | Multiple Sclerosis - physiopathology | Multiple Sclerosis - prevention & control | Humans | Disabled Persons | Disease Progression | Index Medicus
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6. Full Text ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
by ChiĆ², Adriano and Restagno, Gabriella and Brunetti, Maura and Ossola, Irene and Calvo, Andrea and Canosa, Antonio and Moglia, Cristina and Floris, Gianluca and Tacconi, Paolo and Marrosu, Francesco and Marrosu, Maria Giovanna and Murru, Maria Rita and Majounie, Elisa and Renton, Alan E and Abramzon, Yvegeniya and Pugliatti, Maura and Sotgiu, Maria Alessandra and Traynor, Bryan J and Borghero, Giuseppe and SARDINIALS Consortium
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2012, Volume 83, Issue 7, pp. 730 - 733
BackgroundIn the isolated population of Sardinia, a Mediterranean island, āˆ¼25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC... 
HEXANUCLEOTIDE REPEAT EXPANSION | SURGERY | PSYCHIATRY | SOD1 MUTATIONS | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Haplotypes | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Male | DNA-Binding Proteins - genetics | Mutation, Missense - genetics | Amyotrophic Lateral Sclerosis - complications | Proteins - genetics | Frontotemporal Dementia - complications | Phenotype | Pedigree | Adult | Family | Female | Italy - epidemiology | C9orf72 Protein | Frontotemporal Dementia - epidemiology | Amyotrophic Lateral Sclerosis - epidemiology | Care and treatment | Respiratory insufficiency | Research | Gene mutations | Index Medicus
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7. 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 ChiĆ², 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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8. 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 MonsurrĆ², 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 | Index Medicus
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9. 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 ChiĆ², 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 | Index Medicus | 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 | SantƩ publique et ƩpidƩmiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hƤlsovetenskap
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10. Full Text Autophagy and mitophagy elements are increased in body fluids of multiple sclerosis-affected individuals
by Patergnani, Simone and Castellazzi, Massimiliano and Bonora, Massimo and Marchi, Saverio and Casetta, Ilaria and Pugliatti, Maura and Giorgi, Carlotta and Granieri, Enrico and Pinton, Paolo
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 04/2018, Volume 89, Issue 4, pp. 439 - 441
[...]if on the one hand CSF data should reflect a role of autophagy/mitophagy in MS pathogenesis, on the other hand, serum levels of these molecules could be... 
Multiple Sclerosis | Molecular Biology | Neuropathology | Neurobiology | SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY | MITOCHONDRIA | Multiple sclerosis | Disease | Pathogenesis | Experiments | Autophagy | Medical ethics | Studies | Mitochondria | Womens health | Gangrene | Biomarkers | TNF inhibitors | Tumor necrosis factor-TNF | Interferon | Age | Index Medicus
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11. Full Text Personality traits predict perceived health-related quality of life in persons with multiple sclerosis
by Zarbo, Ignazio Roberto and Minacapelli, Eleonora and Falautano, Monica and Demontis, Silvia and Carpentras, Giovanni and Pugliatti, Maura
Multiple Sclerosis Journal, ISSN 1352-4585, 4/2016, Volume 22, Issue 4, pp. 551 - 558
Background: Personality traits can affect health-related quality of life (HRQoL) in different disorders. In multiple sclerosis (MS), personality traits can... 
extraversion | Multiple sclerosis | personality | Eysenck | quality of life | DEPRESSION | ANXIETY | PHYSICAL-DISABILITY | NEUROTICISM | SELF | NEUROSCIENCES | CLINICAL NEUROLOGY | SF-36 | MOOD | DISORDER | ASSOCIATION | Neuroticism | Multiple Sclerosis - psychology | Predictive Value of Tests | Extraversion (Psychology) | Multiple Sclerosis - diagnosis | Cross-Sectional Studies | Intelligence | Humans | Middle Aged | Anxiety - psychology | Personality Assessment | Male | Personality | Health Knowledge, Attitudes, Practice | Anxiety Disorders - psychology | Intelligence Tests | Depressive Disorder, Major - psychology | Psychiatric Status Rating Scales | Quality of Life | Adult | Female | Perception | Surveys and Questionnaires | Neurosis | Personality traits | Anxiety | Mental depression | Sclerosis | Quality of life | Index Medicus
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12. Full Text Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
by ChiĆ², Adriano and Borghero, Giuseppe and Restagno, Gabriella and Mora, Gabriele and