Autor: "Scaioli, V." - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.
Autorzy :: Canafoglia L; Unit of Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Franceschetti S; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1). Electronic address: .
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Messina G; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Scaioli V; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Gellera C; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1).
Panzica F; Biomedical Engineering, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
DiFrancesco JC; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy(1); Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.
Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Pokaż więcej
Źródło :: Seizure [Seizure] 2020 Nov; Vol. 82, pp. 56-58. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :: Journal Article
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: Early Parkinsonism in a Senegalese girl with Lafora disease.
Autorzy :: Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.
Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.
Gabbiadini S; Unit of Child Neuropsychiatry, Ospedale Papa Giovanni XXIII, Bergamo.
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.
Scaioli V; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
DiFrancesco JC; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano, Department of Neurology and Epilepsy Center, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.; Pokaż więcej
Źródło :: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2020 Apr 01; Vol. 22 (2), pp. 233-236.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Cognitive Dysfunction*/etiology
Cognitive Dysfunction*/physiopathology
Lafora Disease*/complications
Lafora Disease*/genetics
Lafora Disease*/physiopathology
Parkinsonian Disorders*/etiology
Parkinsonian Disorders*/physiopathology
Adolescent ; Electroencephalography ; Evoked Potentials/physiology ; Female ; Humans ; Retina/physiopathology ; Senegal ; Ubiquitin-Protein Ligases/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Guillain-Barré Syndrome After Exposure to Mercury.
Autorzy :: Pigatto PD; Department of Biomedical, Surgical and Dental Sciences, IRCCS Istituto Ortopedico Galeazzi, University of Milan, Milan, Italy.
Scaioli V; UOC Neurology, Clinical Neurophysiology, Besta Institute Foundation IRCCS, Milan, Italy.
Guzzi G; Italian Association for Metals and Biocompatibility Research - A.I.R.M.E.B., Milan, Italy.; Pokaż więcej
Źródło :: Journal of child neurology [J Child Neurol] 2020 Jan; Vol. 35 (1), pp. 84-85. Date of Electronic Publication: 2019 Sep 27.
Typ publikacji :: Letter
: Opinia redakcyjna

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Autorzy :: Previtali SC; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy .
Zhao E; Division of Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Lazarevic D; Center for Translational Genomics and Bioinformatics, IRCCS Ospedale San Raffaele, Milano, Italy.
Pipitone GB; Laboratory of Clinical and Molecular Biology and Unit of Genomics for Diagnosis of Genetic Diseases, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy.
Fabrizi GM; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Napoli, Italy.
Mazzeo A; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Schenone A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genova, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Vita G; Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Bellone E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genova, Italy.
Ferrarini M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Garibaldi M; Unit of Neuromuscular Disorders, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital, Roma, Italy.
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Padua L; Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica, Roma, Italy.
Pennisi E; Ospedale San Filippo Neri, Roma, Italy.
Pisciotta C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Riva N; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy.
Scaioli V; Neurophysiopathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Scarlato M; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy.
Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Napoli, Italy.
Geroldi A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, and IRCCS Policlinico San Martino, Genova, Italy.
Jordanova A; VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.
Ferrari M; Laboratory of Clinical and Molecular Biology and Unit of Genomics for Diagnosis of Genetic Diseases, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy.
Molineris I; Center for Translational Genomics and Bioinformatics, IRCCS Ospedale San Raffaele, Milano, Italy.
Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Comi G; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy.
Carrera P; Laboratory of Clinical and Molecular Biology and Unit of Genomics for Diagnosis of Genetic Diseases, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy.
Devoto M; Division of Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Translational and Precision Medicine, University La Sapienza, Roma, Italy.
Bolino A; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy .; Pokaż więcej
Źródło :: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2019 Oct; Vol. 90 (10), pp. 1171-1179. Date of Electronic Publication: 2019 Jun 05.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Charcot-Marie-Tooth Disease/*genetics
Muscular Atrophy, Spinal/*genetics
Adult ; Aged ; Agrin/genetics ; Charcot-Marie-Tooth Disease/physiopathology ; Computational Biology ; DNA Repair Enzymes/genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Middle Aged ; Multienzyme Complexes/genetics ; Muscle Proteins/genetics ; Muscular Atrophy, Spinal/physiopathology ; Pedigree ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Protein-Serine-Threonine Kinases/genetics ; Receptors, sigma/genetics ; Rho Guanine Nucleotide Exchange Factors/genetics ; Whole Exome Sequencing
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.
Autorzy :: Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Chiapparini L; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Scaioli V; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: .
DiFrancesco JC; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.; Pokaż więcej
Źródło :: Seizure [Seizure] 2019 Feb; Vol. 65, pp. 106-108. Date of Electronic Publication: 2019 Jan 08.
Typ publikacji :: Case Reports; Letter
MeSH Terms :: Kv1.2 Potassium Channel/*genetics
Myoclonic Epilepsies, Progressive/*genetics
Myoclonic Epilepsies, Progressive/*physiopathology
Adult ; Electroencephalography ; Gain of Function Mutation/genetics ; Humans ; Male ; Young Adult
: Raport

Szczegóły

Skocz do pozycji: 6 6.

Tytuł :: Sensory trick in task-specific tremor.
Autorzy :: Bagella CF; Department of Movement Disorders, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Romito LM; Department of Movement Disorders, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Scaioli V; Department of Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Elia AE; Department of Movement Disorders, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. .; Pokaż więcej
Źródło :: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2017 Jul; Vol. 38 (7), pp. 1341-1342. Date of Electronic Publication: 2017 Mar 18.
Typ publikacji :: Case Reports; Letter
MeSH Terms :: Sensation/*physiology
Touch/*physiology
Tremor/*physiopathology
Aged ; Electroencephalography ; Female ; Humans ; Magnetic Resonance Imaging ; Physical Stimulation ; Tremor/diagnostic imaging
: Raport

Szczegóły Pełny tekst

Skocz do pozycji: 7 7.

Tytuł :: Movement-activated cortical myoclonus in Dravet syndrome.
Autorzy :: Canafoglia L; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: .
Ragona F; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Panzica F; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Piazza E; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Freri E; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Binelli S; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Scaioli V; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Avanzini G; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Granata T; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Pokaż więcej
Źródło :: Epilepsy research [Epilepsy Res] 2017 Feb; Vol. 130, pp. 47-52. Date of Electronic Publication: 2017 Jan 19.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Epilepsies, Myoclonic/*physiopathology
Movement/*physiology
Myoclonus/*physiopathology
Adolescent ; Adult ; Brain/physiopathology ; Child ; Child, Preschool ; Electroencephalography ; Electromyography ; Epilepsies, Myoclonic/genetics ; Evoked Potentials, Somatosensory ; Humans ; Muscle, Skeletal/physiopathology ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Signal Processing, Computer-Assisted ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 8 8.

Tytuł :: When it rains it pours: amyotrophic lateral sclerosis concealed with Isaac's syndrome.
Autorzy :: Mantero V; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy. .
Rigamonti A; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
Basso F; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
Stanzani L; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
Scaioli V; Department of Neurophysiology-Epilepsy Center, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Salmaggi A; Neurological Department, 'A. Manzoni' Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.; Pokaż więcej
Źródło :: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2016 Jul; Vol. 37 (7), pp. 1181-3. Date of Electronic Publication: 2016 Feb 25.
Typ publikacji :: Case Reports; Letter
MeSH Terms :: Amyotrophic Lateral Sclerosis/*complications
Isaacs Syndrome/*diagnosis
Isaacs Syndrome/*etiology
Electromyography ; Evoked Potentials, Motor/physiology ; Female ; Humans ; Isaacs Syndrome/immunology ; Middle Aged
: Raport

Szczegóły Pełny tekst

Skocz do pozycji: 9 9.

Tytuł :: Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.
Autorzy :: Sagnelli A; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Scaioli V; Department of Neurophysiology-Epilepsy Center, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Piscosquito G; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Salsano E; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Dalla Bella E; Headache and Neuroalgology Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy. Electronic address: .; Pokaż więcej
Źródło :: Neuromuscular disorders : NMD [Neuromuscul Disord] 2015 Oct; Vol. 25 (10), pp. 800-1. Date of Electronic Publication: 2015 Jul 29.
Typ publikacji :: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Charcot-Marie-Tooth Disease/*complications
Charcot-Marie-Tooth Disease/*diagnosis
Muscular Disorders, Atrophic/*complications
Muscular Disorders, Atrophic/*diagnosis
Charcot-Marie-Tooth Disease/genetics ; Comorbidity ; Humans ; Male ; Middle Aged ; Muscular Disorders, Atrophic/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 10 10.

Tytuł :: Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Autorzy :: Canafoglia L; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia. .
Gilioli I; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Invernizzi F; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Sofia V; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Fugnanesi V; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Morbin M; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Chiapparini L; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Granata T; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Binelli S; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Scaioli V; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Garavaglia B; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Nardocci N; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Berkovic SF; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
Franceschetti S; From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.; Pokaż więcej
Źródło :: Neurology [Neurology] 2015 Jul 28; Vol. 85 (4), pp. 316-24. Date of Electronic Publication: 2015 Jun 26.
Typ publikacji :: Journal Article
MeSH Terms :: Mutation*
Brain/*physiopathology
Brain Waves/*physiology
Evoked Potentials, Somatosensory/*physiology
Evoked Potentials, Visual/*physiology
Membrane Proteins/*genetics
Neuronal Ceroid-Lipofuscinoses/*genetics
Neuronal Ceroid-Lipofuscinoses/*physiopathology
Adolescent ; Adult ; Age of Onset ; Child ; Electroencephalography ; Electroretinography ; Female ; Humans ; Male ; Middle Aged
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