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Wyświetlanie 1-12 z 12
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
Tytuł :
The interplay among education, brain metabolism, and cognitive impairment suggests a role of cognitive reserve in Amyotrophic Lateral Sclerosis.
Autorzy :
Canosa, Antonio (AUTHOR) antonio.canosa@unito.it
Palumbo, Francesca (AUTHOR)
Iazzolino, Barbara (AUTHOR)
Peotta, Laura (AUTHOR)
Di Pede, Francesca (AUTHOR)
Manera, Umberto (AUTHOR)
Vasta, Rosario (AUTHOR)
Grassano, Maurizio (AUTHOR)
Solero, Luca (AUTHOR)
Arena, Vincenzo (AUTHOR)
Moglia, Cristina (AUTHOR)
Calvo, Andrea (AUTHOR)
Chiò, Adriano (AUTHOR)
Pagani, Marco (AUTHOR)
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Źródło :
Neurobiology of Aging. Feb2021, Vol. 98, p205-213. 9p.
Czasopismo naukowe
    Wyświetlanie 1-12 z 12

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