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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
Journal Article
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
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2011, Volume 6, Issue 10, p. e25545
Background: Amyotrophic lateral sclerosis (ALS) is a fatal progressive motor neuron disease, for which there are still no diagnostic/prognostic test and... 
INCREASED 3-NITROTYROSINE | MOTOR-NEURONS | SKELETAL-MUSCLE | UNFOLDED PROTEIN RESPONSE | OXIDATIVE DAMAGE | HUMAN CEREBROSPINAL-FLUID | MULTIDISCIPLINARY SCIENCES | EXTEND SURVIVAL | ENDOPLASMIC-RETICULUM STRESS | PROTEOMIC ANALYSIS | TRANSGENIC MICE | Biomarkers - metabolism | Leukocytes, Mononuclear - metabolism | Reproducibility of Results | Animals | Humans | Translational Medical Research | Amyotrophic Lateral Sclerosis - metabolism | Proteomics | Rats | Proteome - metabolism | Disease Progression | Proteins | Medical research | Nervous system diseases | RNA | Analysis | Medicine, Experimental | Amyotrophic lateral sclerosis | Development and progression | Genetic engineering | Research | Biological markers | Spinal cord | Neurosciences | Change detection | Pathogenesis | Parkinsons disease | Transgenic | Superoxide dismutase | Leukocytes (mononuclear) | Biochemistry | Blood | Occupational safety | Motor neuron diseases | Neurodegeneration | Rodents | Peripheral blood mononuclear cells | Bioindicators | Differential diagnosis | Trends | Diagnosis | RNA processing | Gel electrophoresis | Cystic fibrosis | Pharmacology | Metabolism | Ribonucleic acid--RNA | Patients | Neurological diseases | Correlation analysis | Biomarkers | Scientific imaging | Diagnostic systems | Human behavior | Endoplasmic reticulum | Mass spectrometry | Immunoassays | Ribonucleic acid
Journal Article
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
Journal Article
Italian Journal of Pediatrics, ISSN 1720-8424, 04/2016, Volume 42, Issue 1, p. 41
The association between migraine and stroke is still a dilemma for neurologists. Migraine is associated with an increased stroke risk and it is considered an... 
Stroke | Migraine | Stroke - etiology | Stroke - classification | Humans | Risk Factors | Migraine Disorders - complications | Foramen Ovale, Patent - complications | Migraine Disorders - classification
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2012, Volume 33, Issue 8, pp. 1848.e15 - 1848.e20
Journal Article
Journal Article