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Wyszukujesz frazę ""Canosa, A."" wg kryterium: Autor


Wyświetlanie 1-12 z 12
Tytuł :
The interplay among education, brain metabolism, and cognitive impairment suggests a role of cognitive reserve in Amyotrophic Lateral Sclerosis.
Autorzy :
Canosa A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy. Electronic address: antonio.canosa@unito.it.
Palumbo F; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Iazzolino B; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Peotta L; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Di Pede F; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Manera U; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Vasta R; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Grassano M; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Solero L; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Arena V; Positron Emission Tomography Centre AFFIDEA-IRMET S.P.A., Turin, Italy.
Moglia C; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy.
Calvo A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy.
Chiò A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy.
Pagani M; Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy; Department of Medical Radiation Physics and Nuclear Medicine, Karolinska University Hospital, Stockholm, Sweden.
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2021 Feb; Vol. 98, pp. 205-213. Date of Electronic Publication: 2020 Nov 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cognitive Reserve*
Educational Status*
Amyotrophic Lateral Sclerosis/*complications
Amyotrophic Lateral Sclerosis/*psychology
Brain/*metabolism
Cognitive Dysfunction/*etiology
Amyotrophic Lateral Sclerosis/diagnostic imaging ; Amyotrophic Lateral Sclerosis/metabolism ; Brain/diagnostic imaging ; Brain/physiopathology ; Brain Damage, Chronic/diagnostic imaging ; Brain Damage, Chronic/etiology ; Brain Damage, Chronic/pathology ; Female ; Fluorodeoxyglucose F18 ; Humans ; Male ; Positron-Emission Tomography ; Radiopharmaceuticals
Czasopismo naukowe
Tytuł :
A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms.
Autorzy :
Canosa A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy. Electronic address: .
De Marco G; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Lomartire A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Rinaudo MT; Department of Oncology, University of Turin, Turin, Italy.
Di Cunto F; Neuroscience Institute Cavalieri Ottolenghi, University of Turin, Orbassano, Italy.
Turco E; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy.
Barberis M; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Brunetti M; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Casale F; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Moglia C; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, S.C. Neurologia 2 U, Turin, Italy.
Calvo A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, S.C. Neurologia 2 U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy.
Marklund SL; Department of Pharmacology and Clinical Neurosciences, Umeå University, Umeå, Sweden.
Andersen PM; Department of Medical Biosciences, Clinical Chemistry, Umeå University, Umeå, Sweden.
Mora G; ALS Centre, 'Salvatore Maugeri' Clinical-Scientific Institutes, IRCCS, Neurological Rehabilitation Unit, Milan, Italy.
Chiò A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, S.C. Neurologia 2 U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R, Rome, Italy.
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2018 Dec; Vol. 72, pp. 189.e11-189.e17. Date of Electronic Publication: 2018 Aug 24.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Amyotrophic Lateral Sclerosis/*diagnosis
Amyotrophic Lateral Sclerosis/*genetics
Superoxide Dismutase-1/*genetics
Aged ; Female ; Frameshift Mutation ; Humans
Czasopismo naukowe
Tytuł :
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients.
Autorzy :
Lamp M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy; Medical Genetics Unit, Department of Diagnosis, Pathology and Treatments of High Technological Complexity, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Origone P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy; Medical Genetics Unit, Department of Diagnosis, Pathology and Treatments of High Technological Complexity, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Geroldi A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.
Verdiani S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.
Gotta F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy; Medical Genetics Unit, Department of Diagnosis, Pathology and Treatments of High Technological Complexity, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Caponnetto C; Neurology Unit, Department of Neurosciences and Sense Organs, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Devigili G; 1st Neurology Unit, Department of Clinical Neurosciences, IRCCS 'CarloBesta' Neurological Institute, Milan, Italy.
Verriello L; Neurology Unit, Department of Neurosciences, University Hospital 'Santa Maria della Misericordia', Udine, Italy.
Scialò C; Neurology Unit, Department of Neurosciences and Sense Organs, IRCCS Ospedale Policlinico San Martino, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Neurology Unit, University of Genoa, Genoa, Italy.
Cabona C; Neurology Unit, Department of Neurosciences and Sense Organs, IRCCS Ospedale Policlinico San Martino, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Neurology Unit, University of Genoa, Genoa, Italy.
Canosa A; Neurology Unit, Department of Neurosciences and Sense Organs, IRCCS Ospedale Policlinico San Martino, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Neurology Unit, University of Genoa, Genoa, Italy.
Vanni I; Lung Cancer Unit, Department of Integrated Oncological Therapies, IRCCS Ospedale Policlinico SanMartino, Genoa, Italy.
Bellone E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy; Medical Genetics Unit, Department of Diagnosis, Pathology and Treatments of High Technological Complexity, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Eleopra R; 1st Neurology Unit, Department of Clinical Neurosciences, IRCCS 'CarloBesta' Neurological Institute, Milan, Italy.
Mandich P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy; Medical Genetics Unit, Department of Diagnosis, Pathology and Treatments of High Technological Complexity, IRCCS Ospedale Policlinico San Martino, Genoa, Italy. Electronic address: .
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2018 Jun; Vol. 66, pp. 179.e5-179.e16. Date of Electronic Publication: 2018 Feb 01.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Amyotrophic Lateral Sclerosis/*genetics
Genetic Association Studies/*methods
High-Throughput Nucleotide Sequencing/*methods
High-Throughput Nucleotide Sequencing/*trends
Adolescent ; Adult ; Aged ; Aged, 80 and over ; DNA Mutational Analysis/methods ; DNA Repeat Expansion ; Female ; Genetic Variation ; Humans ; Italy ; Male ; Middle Aged ; Time Factors ; Young Adult
Czasopismo naukowe
Tytuł :
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Autorzy :
Borghero G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Pugliatti M; Department of Biomedical and Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, University of Ferrara, Ferrara, Italy.
Marrosu F; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Marrosu MG; Department of Medical Sciences, Multiple Sclerosis Center, University of Cagliari, Cagliari, Italy.
Murru MR; Department of Medical Sciences, Multiple Sclerosis Center, University of Cagliari, Cagliari, Italy.
Floris G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Cannas A; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Occhineri P; Department of Biomedical and Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, University of Ferrara, Ferrara, Italy.
Cau TB; Azienda Sanitaria Locale n. 2, Olbia-Tempio, Olbia, Italy.
Loi D; Azienda Sanitaria Locale n. 2, Olbia-Tempio, Olbia, Italy.
Ticca A; Department of Neurology, Azienda Ospedaliera San Francesco, Nuoro, Italy.
Traccis S; Department of Neurology, Ospedale Antonio Segni, Ozieri, Italy.
Manera U; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy.
Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Barberis M; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Brunetti M; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Gibbs JR; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA.
Errichiello E; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy.
Zoledziewska M; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; Computational Biology Core, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
Mulas A; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy.
Qian Y; Laboratory of Genetics, National Institute on Aging, NIH, Baltimore, MD, USA.
Din J; Laboratory of Genetics, National Institute on Aging, NIH, Baltimore, MD, USA.
Pliner HA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA.
Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; Department of Neurology, Brain Science Institute, Johns Hopkins University, Baltimore, MD, USA.
Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, Consiglio Nazionale delle Ricerche, Rome, Italy. Electronic address: .
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Corporate Authors :
ITALSGEN and SARDINALS Consortia
Źródło :
Neurobiology of aging [Neurobiol Aging] 2016 Jul; Vol. 43, pp. 180.e1-5. Date of Electronic Publication: 2016 Apr 09.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Mutation*
Protein-Serine-Threonine Kinases*
Amyotrophic Lateral Sclerosis/*genetics
Frontotemporal Dementia/*genetics
Aged ; Cohort Studies ; Female ; Humans ; Italy ; Male
SCR Disease Name :
Frontotemporal Dementia With Motor Neuron Disease
Czasopismo naukowe
Tytuł :
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.
Autorzy :
Borghero G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Pugliatti M; Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
Marrosu F; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Marrosu MG; Multiple Sclerosis Center Laboratory, University of Cagliari, Cagliari, Italy.
Murru MR; Multiple Sclerosis Center Laboratory, University of Cagliari, Cagliari, Italy.
Floris G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Cannas A; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Parish LD; Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
Cau TB; Azienda Sanitaria Locale n. 2, Olbia-Tempio, Italy.
Loi D; Azienda Sanitaria Locale n. 2, Olbia-Tempio, Italy.
Ticca A; Department of Neurology, Azienda Ospedaliera San Francesco, Nuoro, Italy.
Traccis S; Department of Neurology, Ospedale Antonio Segni, Ozieri, Italy.
Manera U; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Canosa A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy.
Moglia C; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Calvo A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Neurology II, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Barberis M; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Brunetti M; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, USA.
Nalls MA; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, USA.
Traynor BJ; Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Brain Science Institute, Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.
Restagno G; Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Chiò A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Neurology II, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address: .
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Corporate Authors :
ITALSGEN and SARDINALS consortia
Źródło :
Neurobiology of aging [Neurobiol Aging] 2015 Oct; Vol. 36 (10), pp. 2906.e1-5. Date of Electronic Publication: 2015 Jun 25.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Phenotype*
Amyotrophic Lateral Sclerosis/*genetics
Ataxin-2/*genetics
Amyotrophic Lateral Sclerosis/mortality ; Female ; Humans ; Italy ; Male ; Middle Aged ; Risk Factors ; Survival Rate ; Trinucleotide Repeat Expansion/genetics
Czasopismo naukowe
Tytuł :
Genetic architecture of ALS in Sardinia.
Autorzy :
Borghero G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Pugliatti M; Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
Marrosu F; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Marrosu MG; Multiple Sclerosis Center Laboratory, University of Cagliari, Cagliari, Italy.
Murru MR; Multiple Sclerosis Center Laboratory, University of Cagliari, Cagliari, Italy.
Floris G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Cannas A; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Parish LD; Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
Occhineri P; Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
Cau TB; Azienda Sanitaria Locale n. 2, Olbia-Tempio, Italy.
Loi D; Azienda Sanitaria Locale n. 2, Olbia-Tempio, Italy.
Ticca A; Department of Neurology, Azienda Ospedaliera San Francesco, Nuoro, Italy.
Traccis S; Department of Neurology, Ospedale Antonio Segni, Ozieri, Italy.
Manera U; Amyotrophic Lateral Sclerosis Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Canosa A; Amyotrophic Lateral Sclerosis Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Moglia C; Amyotrophic Lateral Sclerosis Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Calvo A; Amyotrophic Lateral Sclerosis Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy.
Barberis M; Amyotrophic Lateral Sclerosis Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Torino, Italy.
Brunetti M; Amyotrophic Lateral Sclerosis Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Torino, Italy.
Pliner HA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA.
Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA.
Nalls MA; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA.
Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute of Aging, Bethesda, MD, USA; Department of Neurology, Brain Science Institute, Johns Hopkins University, Baltimore, MD, USA.
Restagno G; Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Torino, Italy.
Chiò A; Amyotrophic Lateral Sclerosis Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address: .
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Corporate Authors :
ITALSGEN and SARDINALS Consortia
Źródło :
Neurobiology of aging [Neurobiol Aging] 2014 Dec; Vol. 35 (12), pp. 2882.e7-2882.e12. Date of Electronic Publication: 2014 Jul 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Mutation*
Amyotrophic Lateral Sclerosis/*genetics
Genetic Predisposition to Disease/*genetics
Age of Onset ; Amyotrophic Lateral Sclerosis/epidemiology ; C9orf72 Protein ; DNA Repeat Expansion ; DNA-Binding Proteins/genetics ; Genotype ; Humans ; Italy/epidemiology ; Penetrance ; Phenotype ; Proteins/genetics ; RNA-Binding Protein FUS/genetics ; Superoxide Dismutase/genetics ; Superoxide Dismutase-1
Czasopismo naukowe
Tytuł :
De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.
Autorzy :
Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Torino, Torino, Italy.
Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Torino, Torino, Italy.
Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Torino, Torino, Italy.
Brunetti M; Laboratory of Molecular Genetics, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.
Barberis M; Laboratory of Molecular Genetics, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.
Traynor BJ; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Carrara G; Department of Neuroradiology, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.
Valentini C; Department of Neuroradiology, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.
Restagno G; Laboratory of Molecular Genetics, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.
Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Torino, Torino, Italy; Neuroscience Institute of Torino, Torino, Italy. Electronic address: .
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2014 Jun; Vol. 35 (6), pp. 1513.e7-11. Date of Electronic Publication: 2013 Dec 27.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Amyotrophic Lateral Sclerosis/*genetics
Codon, Nonsense/*genetics
RNA-Binding Protein FUS/*genetics
Adult ; Age Factors ; Aged ; Aged, 80 and over ; Exons/genetics ; Female ; Genetic Association Studies ; Heterozygote ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Time Factors ; Young Adult
Czasopismo naukowe
Tytuł :
UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.
Autorzy :
Chiò A; ALS Center, Department of Neuroscience, University of Torino, and Azienda Ospedale Università San Giovanni Battista, Torino, Italy. />Mora G
Restagno G
Brunetti M
Ossola I
Barberis M
Ferrucci L
Canosa A
Manera U
Moglia C
Fuda G
Traynor BJ
Calvo A
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2013 Jan; Vol. 34 (1), pp. 357.e1-5. Date of Electronic Publication: 2012 Aug 22.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Amyotrophic Lateral Sclerosis*/epidemiology
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/mortality
Genetic Predisposition to Disease/*genetics
Nerve Tissue Proteins/*genetics
Polymorphism, Single Nucleotide/*genetics
Adult ; Age of Onset ; Aged ; Aged, 80 and over ; C9orf72 Protein ; Chi-Square Distribution ; Community Health Planning ; Female ; Genotype ; Humans ; Italy ; Male ; Middle Aged ; Proteins/genetics ; Young Adult
Czasopismo naukowe
    Wyświetlanie 1-12 z 12

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