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Tytuł:
hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.
Autorzy:
Luigetti M; Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, 00168 Roma, Italy.; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Romozzi M; Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, 00168 Roma, Italy.; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Bisogni G; Centro Clinico NEMO-Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.
Cardellini D; Dipartimento di Neuroscienze, Biomedicina e Scienze del Movimento, Università di Verona, 37134 Verona, Italy.
Cavallaro T; Dipartimento di Neuroscienze, Biomedicina e Scienze del Movimento, Università di Verona, 37134 Verona, Italy.
Di Paolantonio A; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Fabrizi GM; Dipartimento di Neuroscienze, Biomedicina e Scienze del Movimento, Università di Verona, 37134 Verona, Italy.
Fenu S; Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Gentile L; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Grandis M; Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (DINOGMI), Università degli studi di Genova, 16132 Genova, Italy.; IRCCS San Martino, 16132 Genova, Italy.
Marucci G; Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Massucco S; Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (DINOGMI), Università degli studi di Genova, 16132 Genova, Italy.
Mazzeo A; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Pareyson D; Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Romano A; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.; Centro Clinico NEMO-Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.
Russo M; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Schenone A; Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (DINOGMI), Università degli studi di Genova, 16132 Genova, Italy.; IRCCS San Martino, 16132 Genova, Italy.
Tagliapietra M; Dipartimento di Neuroscienze, Biomedicina e Scienze del Movimento, Università di Verona, 37134 Verona, Italy.
Tozza S; Dipartimento di Neuroscienze, Scienze della Riproduzione e Oftalmologiche, Università Federico II di Napoli, 80131 Napoli, Italy.
Vita G; Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.
Sabatelli M; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.; Centro Clinico NEMO-Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy.
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Źródło:
Brain sciences [Brain Sci] 2020 Oct 26; Vol. 10 (11). Date of Electronic Publication: 2020 Oct 26.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study.
Autorzy:
Bianchi-Marzoli S; Neuro-ophthalmology Center and Ocular Electrophysiology Laboratory, Istituto Auxologico Italiano IRCCS Capitanio Hospital, Milan, Italy.
Fenu S; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
Melzi L; Neuro-ophthalmology Center and Ocular Electrophysiology Laboratory, Istituto Auxologico Italiano IRCCS Capitanio Hospital, Milan, Italy.
Benzoni C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
Antonazzo F; Centre Inria Lille - Nord Europe, Villeneuve d'Ascq, France.
Tomas Roldan E; Unit of Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Farina L; Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Neuroimaging Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.
Tremolada G; Neuro-ophthalmology Center and Ocular Electrophysiology Laboratory, Istituto Auxologico Italiano IRCCS Capitanio Hospital, Milan, Italy.
Mauro E; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
Pensato V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
Salsano E; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. .; Neuroscience PhD Program, University of Milano-Bicocca, Monza, Italy. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Jan; Vol. 42 (1), pp. 235-241. Date of Electronic Publication: 2020 Jul 06.
Typ publikacji:
Journal Article
MeSH Terms:
Adrenoleukodystrophy*/diagnostic imaging
Tomography, Optical Coherence*
Adult ; Cross-Sectional Studies ; Humans ; Longitudinal Studies ; Male ; Nerve Fibers ; Retinal Ganglion Cells
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.
Autorzy:
Magliano L; Department of Psychology, University of Campania 'Luigi Vanvitelli', Viale Ellittico 31, 81100, Caserta, Italy. .
Obici L; Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, University of Pavia, Pavia, Italy.
Sforzini C; Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, University of Pavia, Pavia, Italy.
Mazzeo A; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Russo M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Cappelli F; Tuscan Regional Amyloidosis Centre, Careggi University Hospital, Florence, Italy.
Fenu S; Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Luigetti M; Fondazione Policlinico Universitario A. Gemelli IRCCS. UOC Neurologia, Rome, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.
Tagliapietra M; Department of Neuroscience, Biomedicine and Movement Sciences, University and AOUI Verona, Verona, Italy.
Gemelli C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Leonardi L; Department of Neurosciences, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples, Federico II, Naples, Italy.
Pradotto LG; Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Unit of Neurology and Neurorehabilitation, IRCCS - Istituto Auxologico Italiano, Piancavallo, VB, Italy.
Citarelli G; Department of Psychology, University of Campania 'Luigi Vanvitelli', Viale Ellittico 31, 81100, Caserta, Italy.
Mauro A; Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Unit of Neurology and Neurorehabilitation, IRCCS - Istituto Auxologico Italiano, Piancavallo, VB, Italy.
Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples, Federico II, Naples, Italy.
Antonini G; Department of Neurosciences, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
Grandis M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Fabrizi GM; Department of Neuroscience, Biomedicine and Movement Sciences, University and AOUI Verona, Verona, Italy.
Sabatelli M; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.; NEuroMuscular Omnicentre (NEMO), Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Pareyson D; Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Perfetto F; Tuscan Regional Amyloidosis Centre, Careggi University Hospital, Florence, Italy.
Merlini G; Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, University of Pavia, Pavia, Italy.
Vita G; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
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Corporate Authors:
ATTRv Collaborators
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Apr 07; Vol. 16 (1), pp. 163. Date of Electronic Publication: 2021 Apr 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Quality of Life*
Social Support*
Adult ; Amyloid Neuropathies, Familial ; Humans ; Italy ; Surveys and Questionnaires
SCR Disease Name:
Amyloidosis, Hereditary, Transthyretin-Related
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia.
Autorzy:
Benzoni, Chiara
Moscatelli, Marco
Fenu, Silvia
Venerando, Anna
Salsano, Ettore
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Temat:
EPILEPSY
SPINOCEREBELLAR ataxia
LEUKOENCEPHALOPATHIES
LEUKODYSTROPHY
CEREBRAL small vessel diseases
DEMENTIA
CHARCOT-Marie-Tooth disease
Źródło:
Journal of Neurology; May2021, Vol. 268 Issue 5, p1972-1976, 5p
Czasopismo naukowe
Szczegóły
Tytuł:
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
Autorzy:
Malacarne C; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.; PhD Program in Neuroscience, University of Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy.
Galbiati M; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro di Eccellenza sulle Malattie Neurodegenerative, Università degli Studi di Milano, Via Balzaretti, 9, 20133 Milano, Italy.
Giagnorio E; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.; PhD Program in Neuroscience, University of Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy.
Cavalcante P; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Salerno F; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Andreetta F; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Cagnoli C; Molecular Neuroanatomy and Pathogenesis Unit, Neurology VII-Clinical and Experimental Epileptology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Taiana M; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122 Milan, Italy.
Nizzardo M; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.
Corti S; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122 Milan, Italy.; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.
Pensato V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Venerando A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Fenu S; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Masson R; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Maggi L; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Dalla Bella E; Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Lauria G; Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.; Department of Biomedical and Clinical Sciences 'Luigi Sacco', University of Milan, Via G.B. Grassi 74, 20157 Milan, Italy.
Mantegazza R; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Bernasconi P; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Poletti A; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro di Eccellenza sulle Malattie Neurodegenerative, Università degli Studi di Milano, Via Balzaretti, 9, 20133 Milano, Italy.
Bonanno S; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
Marcuzzo S; Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 May 26; Vol. 22 (11). Date of Electronic Publication: 2021 May 26.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/metabolism
Bulbo-Spinal Atrophy, X-Linked*/genetics
Bulbo-Spinal Atrophy, X-Linked*/metabolism
MicroRNAs*/genetics
MicroRNAs*/metabolism
Mutation, Missense*
Superoxide Dismutase*/genetics
Superoxide Dismutase*/metabolism
Superoxide Dismutase-1*/genetics
Superoxide Dismutase-1*/metabolism
Amino Acid Substitution ; Animals ; Humans ; Mice ; Mice, Transgenic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Autorzy:
Nanetti, Lorenzo
Di Bella, Daniela
Magri, Stefania
Fichera, Mario
Sarto, Elisa
Castaldo, Anna
Mongelli, Alessia
Baratta, Silvia
Fenu, Silvia
Moscatelli, Marco
Bonati, Maria Teresa
Martinuzzi, Andrea
Mariotti, Caterina
Taroni, Franco
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Temat:
KALLMANN syndrome
GENETIC variation
JUVENILE diseases
SPINOCEREBELLAR ataxia
PITUITARY dwarfism
CEREBELLAR ataxia
PHENOTYPES
Źródło:
Frontiers in Neurology; 1/6/2022, Vol. 13, p1-11, 11p
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 90

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