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Wyszukujesz frazę ""Canafoglia, L."" wg kryterium: Autor


Wyświetlanie 1-13 z 13
Tytuł :
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
Autorzy :
DiFrancesco JC; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology and Epilepsy Center, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy. Electronic address: .
Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Milanesi R; Molecular Physiology and Neurobiology, The PaceLab, Department of Biosciences, Università degli Studi di Milano, 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.
Canafoglia L; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ferrarese C; Department of Neurology and Epilepsy Center, Milan Center for Neuroscience, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.
Magri S; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Costa C; Neurology Unit and Epilepsy Center, Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia, Perugia, Italy.
Labate A; Institute of Neurology, University 'Magna Graecia', Catanzaro, Italy.
Gambardella A; Institute of Neurology, University 'Magna Graecia', Catanzaro, Italy.
Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Binda A; School of Medicine and Surgery, Milan Center for Neuroscience and Nanomedicine Center, University of Milano-Bicocca, Monza, Italy.
Rivolta I; School of Medicine and Surgery, Milan Center for Neuroscience and Nanomedicine Center, University of Milano-Bicocca, Monza, Italy.
Di Gennaro G; IRCCS NEUROMED, Pozzilli, IS, Italy.
Casciato S; IRCCS NEUROMED, Pozzilli, IS, Italy.
D'Incerti L; Neuroradiology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Barbuti A; Molecular Physiology and Neurobiology, The PaceLab, Department of Biosciences, Università degli Studi di Milano, Milan, Italy.
DiFrancesco D; Molecular Physiology and Neurobiology, The PaceLab, Department of Biosciences, Università degli Studi di Milano, Milan, Italy.
Granata T; Department of Pediatric Neuroscience, 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.
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Źródło :
Epilepsy research [Epilepsy Res] 2019 Jul; Vol. 153, pp. 49-58. Date of Electronic Publication: 2019 Apr 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Epilepsy/*genetics
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/*genetics
Mutation/*genetics
Potassium Channels, Voltage-Gated/*genetics
Adaptor Proteins, Signal Transducing ; Cadherins/genetics ; Carrier Proteins/genetics ; Caveolin 3/genetics ; Cohort Studies ; Electroencephalography ; Family Health ; Female ; Filamins/genetics ; Genetic Testing ; Guanylate Kinases ; Humans ; Male ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Receptors, Cytoplasmic and Nuclear/genetics
Czasopismo naukowe
Tytuł :
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Autorzy :
Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.; EuroEPINOMICS RES Consortium.
Porro A; Department of Biosciences, University of Milan, Milan, Italy.
Rastetter A; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Dalle C; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Rivolta I; School of Medicine and Surgery, University Milano-Bicocca, Monza, Italy.
Bauer D; Computational Biology and Simulation Group, Department of Biology, Technische Universität Darmstadt, Darmstadt, Germany.
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Nava C; EuroEPINOMICS RES Consortium.; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris, France.
Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Mercer C; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Dhamija R; Department of Clinical Genomics and Neurology, Mayo Clinic, Phoenix, AZ, USA.
Chambers C; Department of Neurosciences, University of Virginia, Charlottesville, VA, USA.
Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Montpellier, France.
Thévenon J; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon and INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.
Kuentz P; FHU-TRANSLAD, Université de Bourgogne/CHU Dijon and INSERM UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, Dijon, France.; Génétique Biologique Histologie, CHRU de Besançon, Besançon, France.
Julia S; Service de génétique médicale, Pôle de biologie, CHU de Toulouse - Hôpital Purpan, Toulouse, France.
Pasquier L; Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de causes rares (CRDI), CHU Rennes, Rennes, France.
Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes, France.
Carré W; Laboratoire de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes, France.
Rosati A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Melani F; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Giardino M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.
Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Alembik Y; Laboratoires de génétique, Institut de génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Scheidecker S; Laboratoires de génétique, Institut de génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Santos M; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
Figueiroa S; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
Garrido C; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
Fusco C; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Frattini D; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Spagnoli C; Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Binda A; School of Medicine and Surgery, University Milano-Bicocca, Monza, Italy.
Granata T; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ragona F; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Freri E; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Castellotti B; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Milanesi R; Department of Biosciences, The PaceLab, Università degli Studi di Milano, Milan, Italy.
Mancardi MM; Child Neuropsychiatry Unit, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Clark DR; Women's and Children's Hospital, Adelaide, Australia.
Kok F; Mendelics Genomic Analysis, Sao Paulo, SP, Brazil.
Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.
Sadler L; Division of Genetics, Department of Pediatrics, Oishei Children's Hospital, Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, State University of New York, Buffalo, NY, USA.
Neupauerová J; Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Laššuthova P; Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Šterbová K; EuroEPINOMICS RES Consortium.; Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Laridon A; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.
Brilstra E; EuroEPINOMICS RES Consortium.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Koeleman B; EuroEPINOMICS RES Consortium.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Lemke JR; EuroEPINOMICS RES Consortium.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Zara F; Laboratory of Neurogenetics and Neuroscience, Institute G Gaslini, Genova, Italy.
Striano P; EuroEPINOMICS RES Consortium.; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 'G Gaslini' Institute, Genova, Italy.
Soblet J; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.
Smits G; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.
Deconinck N; Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, ULB, Brussels, Belgium.
Barbuti A; Department of Biosciences, The PaceLab, Università degli Studi di Milano, Milan, Italy.
DiFrancesco D; Department of Biosciences, The PaceLab, Università degli Studi di Milano, Milan, Italy.
LeGuern E; EuroEPINOMICS RES Consortium.; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris, France.
Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, Florence, Italy.; EuroEPINOMICS RES Consortium.
Santoro B; Department of Neuroscience, Columbia University, New York, NY, USA.
Hamacher K; Computational Biology and Simulation Group, Department of Biology, Technische Universität Darmstadt, Darmstadt, Germany.
Thiel G; Membrane Biophysics, Deparment of Biology, Technische Universität Darmstadt, Darmstadt, Germany.
Moroni A; Department of Biosciences, University of Milan, Milan, Italy.
DiFrancesco JC; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Neurology, San Gerardo Hospital, University Milano-Bicocca, Monza, Italy.
Depienne C; EuroEPINOMICS RES Consortium.; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
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Źródło :
Brain : a journal of neurology [Brain] 2018 Nov 01; Vol. 141 (11), pp. 3160-3178.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsy, Generalized/*genetics
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/*genetics
Mutation/*genetics
Potassium Channels/*genetics
Spasms, Infantile/*genetics
Adolescent ; Adult ; Aged ; Animals ; CHO Cells ; Child ; Child, Preschool ; Cricetulus ; Electric Stimulation ; Female ; Genetic Association Studies ; Humans ; Infant ; Male ; Membrane Potentials/genetics ; Middle Aged ; Models, Molecular ; Mutagenesis, Site-Directed/methods ; Young Adult
SCR Disease Name :
Infantile Epileptic-Dyskinetic Encephalopathy
Czasopismo naukowe
Tytuł :
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Autorzy :
Bonzanni M; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
DiFrancesco JC; Clinical Neurophysiology and Epilepsy Center, 'C. Besta' Neurological Institute, Milano, Italy; Dept. of Neurology, San Gerardo Hospital, Laboratory of Neurobiology, Milan Center for Neuroscience, University of Milano-Bicocca, Monza, Italy. Electronic address: .
Milanesi R; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
Campostrini G; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, 'C. Besta' Neurological Institute, Milano, Italy.
Bucchi A; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
Baruscotti M; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
Ferrarese C; Dept. of Neurology, San Gerardo Hospital, Laboratory of Neurobiology, Milan Center for Neuroscience, University of Milano-Bicocca, Monza, Italy.
Franceschetti S; Clinical Neurophysiology and Epilepsy Center, 'C. Besta' Neurological Institute, Milano, Italy.
Canafoglia L; Clinical Neurophysiology and Epilepsy Center, 'C. Besta' Neurological Institute, Milano, Italy.
Ragona F; Dept. of Pediatric Neuroscience, 'C. Besta' Neurological Institute, Milano, Italy.
Freri E; Dept. of Pediatric Neuroscience, 'C. Besta' Neurological Institute, Milano, Italy.
Labate A; Institute of Neurology, University 'Magna Graecia', Catanzaro, Italy.
Gambardella A; Institute of Neurology, University 'Magna Graecia', Catanzaro, Italy.
Costa C; Neurology Unit, Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia, Perugia, Italy.
Rivolta I; School of Medicine and Surgery, Milan Center for Neuroscience and Nanomedicine Center, University of Milano-Bicocca, Monza, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, 'C. Besta' Neurological Institute, Milano, Italy.
Granata T; Dept. of Pediatric Neuroscience, 'C. Besta' Neurological Institute, Milano, Italy.
Barbuti A; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy. Electronic address: .
DiFrancesco D; Dept. of Biosciences, The PaceLab, University of Milano, Milano, Italy.
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Źródło :
Neurobiology of disease [Neurobiol Dis] 2018 Oct; Vol. 118, pp. 55-63. Date of Electronic Publication: 2018 Jun 21.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsy, Generalized/*diagnosis
Epilepsy, Generalized/*genetics
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/*genetics
Mutation/*genetics
Neurons/*physiology
Potassium Channels/*genetics
Action Potentials/physiology ; Amino Acid Sequence ; Animals ; Animals, Newborn ; CHO Cells ; Cells, Cultured ; Cricetinae ; Cricetulus ; Epilepsy, Generalized/physiopathology ; Female ; Humans ; Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/chemistry ; Male ; Pedigree ; Potassium Channels/chemistry ; Protein Structure, Secondary ; Rats ; Young Adult
Czasopismo naukowe
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. canafoglia@istituto-besta.it.
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.
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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
Czasopismo naukowe
Tytuł :
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Autorzy :
Ferlazzo E; Magna Graecia University of Catanzaro, Catanzaro, Italy; Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
Canafoglia L
Michelucci R
Gambardella A
Gennaro E
Pasini E
Riguzzi P
Plasmati R
Volpi L
Labate A
Gasparini S
Villani F
Casazza M
Viri M
Zara F
Minassian BA
Turnbull J
Serratosa JM
Guerrero-López R
Franceschetti S
Aguglia U
Pokaż więcej
Źródło :
Epilepsia [Epilepsia] 2014 Dec; Vol. 55 (12), pp. e129-33. Date of Electronic Publication: 2014 Sep 30.
Typ publikacji :
Journal Article
MeSH Terms :
Lafora Disease*/genetics
Lafora Disease*/physiopathology
Lafora Disease*/therapy
Mutation*
Carrier Proteins/*genetics
Protein Tyrosine Phosphatases, Non-Receptor/*genetics
Adolescent ; Adult ; Electroencephalography ; Female ; Humans ; Italy ; Longitudinal Studies ; Male ; Middle Aged ; Ubiquitin-Protein Ligases ; Young Adult
Czasopismo naukowe
Tytuł :
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Autorzy :
Smith KR; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Damiano J
Franceschetti S
Carpenter S
Canafoglia L
Morbin M
Rossi G
Pareyson D
Mole SE
Staropoli JF
Sims KB
Lewis J
Lin WL
Dickson DW
Dahl HH
Bahlo M
Berkovic SF
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2012 Jun 08; Vol. 90 (6), pp. 1102-7. Date of Electronic Publication: 2012 May 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Intercellular Signaling Peptides and Proteins/*genetics
Animals ; Chromosome Mapping ; DNA Mutational Analysis ; Dementia/genetics ; Family Health ; Female ; Genetic Linkage ; Heterozygote ; Homozygote ; Humans ; Lod Score ; Male ; Mice ; Pedigree ; Phenotype ; Progranulins
Czasopismo naukowe
Tytuł :
Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.
Autorzy :
Rubboli G; Neurology Unit, IRCCS Institute of Neurological Sciences, Bologna, Italy. />Franceschetti S
Berkovic SF
Canafoglia L
Gambardella A
Dibbens LM
Riguzzi P
Campieri C
Magaudda A
Tassinari CA
Michelucci R
Pokaż więcej
Źródło :
Epilepsia [Epilepsia] 2011 Dec; Vol. 52 (12), pp. 2356-63. Date of Electronic Publication: 2011 Nov 02.
Typ publikacji :
Journal Article
MeSH Terms :
Brain/*physiopathology
Evoked Potentials, Somatosensory/*physiology
Evoked Potentials, Visual/*physiology
Lysosome-Associated Membrane Glycoproteins/*genetics
Mutation/*genetics
Myoclonic Epilepsies, Progressive/*genetics
Receptors, Scavenger/*genetics
Adult ; Brain/pathology ; Electroencephalography ; Electromyography ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Myoclonic Epilepsies, Progressive/complications ; Myoclonic Epilepsies, Progressive/pathology ; Photic Stimulation ; Reflex/physiology ; Renal Insufficiency/complications ; Renal Insufficiency/genetics ; Time Factors ; Young Adult
Czasopismo naukowe
Tytuł :
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Autorzy :
Arsov T; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
Smith KR
Damiano J
Franceschetti S
Canafoglia L
Bromhead CJ
Andermann E
Vears DF
Cossette P
Rajagopalan S
McDougall A
Sofia V
Farrell M
Aguglia U
Zini A
Meletti S
Morbin M
Mullen S
Andermann F
Mole SE
Bahlo M
Berkovic SF
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2011 May 13; Vol. 88 (5), pp. 566-73. Date of Electronic Publication: 2011 May 05.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Membrane Proteins/*genetics
Neuronal Ceroid-Lipofuscinoses/*etiology
Neuronal Ceroid-Lipofuscinoses/*genetics
Adolescent ; Adult ; Age of Onset ; Biopsy ; Dementia/pathology ; Exons ; Female ; Genetic Linkage ; Genetic Testing/methods ; Genotype ; Heterozygote ; Humans ; Male ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Autorzy :
Franceschetti S; Department of Clinical Neurophysiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
Gambardella A
Canafoglia L
Striano P
Lohi H
Gennaro E
Ianzano L
Veggiotti P
Sofia V
Biondi R
Striano S
Gellera C
Annesi G
Madia F
Civitelli D
Rocca FE
Quattrone A
Avanzini G
Minassian B
Zara F
Pokaż więcej
Źródło :
Epilepsia [Epilepsia] 2006 Mar; Vol. 47 (3), pp. 640-3.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Carrier Proteins/*genetics
European Continental Ancestry Group/*genetics
Lafora Disease/*diagnosis
Lafora Disease/*genetics
Mutation/*genetics
Activities of Daily Living ; Adolescent ; Age of Onset ; Child ; Disability Evaluation ; Disease Progression ; Female ; Follow-Up Studies ; Gene Frequency/genetics ; Genotype ; Humans ; Interpersonal Relations ; Italy/ethnology ; Lafora Disease/ethnology ; Longitudinal Studies ; Male ; Pedigree ; Phenotype ; Ubiquitin-Protein Ligases
Czasopismo naukowe
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