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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
Journal Article
Journal Article
JAMA Neurology, ISSN 2168-6149, 01/2014, Volume 71, Issue 1, pp. 104 - 104
  A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It started with slowness of gait and mood dysfunction. Symptoms... 
Neurology | Brain | Nuclear magnetic resonance--NMR | Males | Older people | Parkinsons disease | Atrophy
Journal Article
Journal of Neurology, ISSN 0340-5354, 12/2018, Volume 265, Issue 12, pp. 2934 - 2943
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2017, Volume 18, Issue 1, pp. 115 - 115
Background: Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered... 
CDKN1C | Beckwith-Wiedemann syndrome | Abdominal wall defects | KCNQ1OT1:TSS-DMR | Omphalocele | Genomic imprinting | DIAGNOSIS | DOMAIN | PHENOTYPE | CLOSURE | RISK | BECKWITH-WIEDEMANN-SYNDROME | GENETICS & HEREDITY | BODY-WALL DEFECTS | MUTATIONS | ISOLATED HEMIHYPERPLASIA | Genomic Imprinting | Sequence Deletion | Cyclin-Dependent Kinase Inhibitor p57 - genetics | Humans | Child, Preschool | Infant | Male | DNA Mutational Analysis - methods | Beckwith-Wiedemann Syndrome - genetics | Genetic Variation | DNA Methylation | Base Sequence | Female | Infant, Newborn | Potassium Channels, Voltage-Gated - genetics | Genetic Predisposition to Disease - genetics | Chromosomes, Human, Pair 11 - genetics | Sequence Homology, Nucleic Acid | Pedigree | Transcription Initiation Site | Consanguinity | Polymorphism, Single Nucleotide | Mutation | Beckwith-Wiedemann Syndrome - pathology | Hernia, Umbilical - genetics | Hernia | Epigenetic inheritance | Navel | Genetic variation | Physiological aspects | Genetic aspects | Research | Risk factors | Body wall | Susceptibility | Genomics | Genes | KCNQ1OT1 protein | Kinases | Defects | Abdomen | Proteins | Pregnancy | Genetic counseling | Clonal deletion | Etiology | DNA methylation | Epigenetics | Chromosome 11 | Potassium channels (voltage-gated) | Umbilical cord | Chromosomes | Index Medicus
Journal Article
Journal of the Academy of Nutrition and Dietetics, ISSN 2212-2672, 08/2016, Volume 116, Issue 8, p. 1243
  In adults, one of the most common causes of intestinal insufficiency is bowel resection, a surgical procedure used as a treatment for several clinical... 
Diet | Nutrition | Older people | Colorectal cancer | Gastrointestinal surgery
Journal Article
Journal of clinical lipidology, ISSN 1933-2874, 07/2019
Cardiovascular disease (CVD) is a major cause of mortality and morbidity. Increased low-density lipoprotein cholesterol (LDL-C) level is its major risk factor.... 
Index Medicus
Journal Article
Journal Article
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, 01/2018, Volume 19, Issue 1-2, pp. 93 - 101
Objective: More than 180 different superoxide dismutase 1 (SOD1) mutations have been described to date in amyotrophic lateral sclerosis (ALS) patients,... 
DNA methylation | Amyotrophic lateral sclerosis | superoxide dismutase 1 | epigenetics | DISCORDANT | REPEAT EXPANSION | ALZHEIMERS-DISEASE | ALS | MOTOR-NEURON DISEASE | SUPEROXIDE-DISMUTASE-1 GENE | C9ORF72 | CLINICAL NEUROLOGY | IDENTICAL-TWINS | FUS MUTATIONS | ASSOCIATION | Index Medicus
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 04/2018, Volume 64, pp. 157.e1 - 157.e5
To clarify the possible involvement of intermediate alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested in a cohort of 1146 Italian ALS... 
Amyotrophic lateral sclerosis | ATXN1 | Frontotemporal dementia | Spinocerebellar ataxia | C9orf72 | REPEAT EXPANSIONS | GENES | ALS | ATAXIN-2 | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | Index Medicus
Journal Article