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Wyszukujesz frazę ""Canafoglia, L."" wg kryterium: Wszystkie pola


Tytuł :
SYNGAP1-DEE: A visual sensitive epilepsy.
Autorzy :
Lo Barco T; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; PhD Program in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Italy. Electronic address: .
Kaminska A; Department of Clinical Neurophysiology, Necker-Enfants-Malades Hospital, AP-HP, Paris, France.
Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Cancés C; Department of Pediatric Neurology, Toulouse Children Hospital, Toulouse University Hospital, Toulouse, France.
Barcia G; Fédération de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France.
Chemaly N; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; Department of Paediatric Neurology, Necker-Enfants Malades Hospital, University of Paris, AP-HP, Paris, France.
Fontana E; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Research Center for Pediatric Epilepsies Verona, Verona, Italy.
Desguerre I; Department of Paediatric Neurology, Necker-Enfants Malades Hospital, University of Paris, AP-HP, Paris, France.
Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Hachon Le Camus C; Department of Pediatric Neurology, Toulouse Children Hospital, Toulouse University Hospital, Toulouse, France.
Losito E; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
Villard L; Pediatric Neurology Department, Timone Children Hospital, Reference Center for Rare Epilepsies, APHM, Marseille, France.
Eisermann M; Department of Clinical Neurophysiology, Necker-Enfants-Malades Hospital, AP-HP, Paris, France.
Dalla Bernardina B; Research Center for Pediatric Epilepsies Verona, Verona, Italy.
Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, Reference Center for Rare Epilepsies, APHM, Marseille, France.
Nabbout R; Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; Department of Paediatric Neurology, Necker-Enfants Malades Hospital, University of Paris, AP-HP, Paris, France. Electronic address: .
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Źródło :
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2021 Feb 03; Vol. 132 (4), pp. 841-850. Date of Electronic Publication: 2021 Feb 03.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Relevance of neurophysiological assessment in a case of epilepsia partialis continua caused by anaplastic large cell lymphoma.
Autorzy :
Stanzani L; Neurological Department ASST, Lecco, Italy.
Visani E; Biomedical Engineering, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Chiapparini L; Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Panzica F; Clinical Engineering, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Salmaggi A; Neurological Department ASST, Lecco, Italy.
Franceschetti S; Neurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: laura.canafoglia@istituto-besta.it.
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Źródło :
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2021 Jan; Vol. 132 (1), pp. 165-166. Date of Electronic Publication: 2020 Nov 23.
Typ publikacji :
Letter
Opinia redakcyjna
Tytuł :
Brivaracetam as add-on treatment in focal epilepsy: A real-world time-based analysis.
Autorzy :
Lattanzi S; Neurological Clinic, Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy.
De Maria G; Clinical of Neurophysiology, Epilepsy Center, Spedali Civili, Brescia, Italy.
Rosati E; Neurology Unit 2, Neuromuscular and Sense Organs Department, Careggi University Hospital, Florence, Italy.
Didato G; Clinical and Experimental Epileptology Unit, Foundation IRCCS Carlo Besta Neurological Institute, Milan, Italy.
Chiesa V; Epilepsy Center, Child Neuropsychiatry Unit, AAST Santi Paolo Carlo, Milan, Italy.
Ranzato F; Epilepsy Center, Neurology Unit, Vicenza, Italy.
Canafoglia L; Neurophysiopathology, Foundation IRCCS Carlo Besta Neurological Institute, Milan, Italy.
Cesnik E; Epilepsy Center, AOU Ferrara, Ferrara, Italy.
Anzellotti F; Neurology Unit, 'SS Annunziata' University Hospital, Epilepsy Center, Chieti, Italy.
Meletti S; Neurology Unit, OCB Hospital, AOU Modena, Modena, Italy.; Department of Biomedical, Metabolic, and Neural Science, Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy.
Pauletto G; Neurology Unit, Department of Neurosciences, Central Friuli University Health Company, Udine, Italy.
Nilo A; Neurological Clinic, Department of Neurosciences, Central Friuli University Health Company, Udine, Italy.
Bartolini E; Neurology Unit, USL Central Tuscany, Prato, Italy.
Marino D; Epilepsy Center, Neurology Unit, Department of Cardioneurovascular Sciences, San Donato Hospital, Arezzo, Italy.
Tartara E; Epilepsy Center, IRCCS C. Mondino National Neurological Institute, Pavia, Italy.
Luisi C; Department of Neuroscience, University of Padua, Padua, Italy.
Bonanni P; Epilepsy and Psychopathology Unit, IRCCS Medea, Treviso, Italy.
Marrelli A; Neurophysiopathology Unit, Epilepsy Center, San Salvatore Hospital, L'Aquila, Italy.
Stokelj D; Neurology Clinic, ASU GI, Trieste, Italy.
Dainese F; Epilepsy Center, Neurology Unit, Venice, Italy.
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Źródło :
Epilepsia [Epilepsia] 2021 Jan; Vol. 62 (1), pp. e1-e6. Date of Electronic Publication: 2020 Dec 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Early-onset phenotype of bi-allelic GRN mutations.
Autorzy :
Neuray C; UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria.
Sultan T; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Alvi JR; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Franca MC; Department of Neurology, School of Medical Sciences, University of Campinas - UNICAMP, Campinas, Sao Paulo, Brazil.
Assmann B; Department of Paediatrics, Medizinische Universität Heidelberg, Germany.
Wagner M; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Institute of Human Genetics, Technical University Munich, Munich, Germany.
Canafoglia L; Neurolophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Neurolophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Rossi G; Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Santana I; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
Macario MC; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
Almeida MR; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.; Laboratory of Neurogenetics, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal.
Kamate M; Division of Pediatric Neurology, Department of Pediatrics, Kaher-University's J N Medical College, Belgaum, India.
Parikh S; Department of Mitochondrial Medicine and Neurogenetics, Cleveland Clinic, Cleveland, USA.
Elloumi HZ; GeneDx, Gaithersburg, MD, USA.
Murphy D; UCL Queen Square Institute of Neurology, University College London, London, UK.
Efthymiou S; UCL Queen Square Institute of Neurology, University College London, London, UK.
Maroofian R; UCL Queen Square Institute of Neurology, University College London, London, UK.
Houlden H; UCL Queen Square Institute of Neurology, University College London, London, UK.
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Źródło :
Brain : a journal of neurology [Brain] 2020 Dec 22. Date of Electronic Publication: 2020 Dec 22.
Typ publikacji :
Journal Article
Czasopismo naukowe
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.
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Źródło :
Seizure [Seizure] 2020 Nov; Vol. 82, pp. 56-58. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Autorzy :
Soldovieri MV; Dept. of Medicine and Health Science, University of Molise, Campobasso, Italy.
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ambrosino P; Dept. of Science and Technology (DST), University of Sannio, Benevento, Italy.
Rivolta I; School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Monza, Italy.
Mosca I; Dept. of Medicine and Health Science, University of Molise, Campobasso, Italy.
Binda A; School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Monza, Italy.
Murano C; School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Monza, Italy.
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Dept. of Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Vannicola C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Solazzi R; 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.
Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Messina G; 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.
Labalme A; Dept. of Medical Genetics, Hospices Civils de Lyon, Lyon, France.
Lesca G; Dept. of Medical Genetics, Hospices Civils de Lyon, Lyon, France.
DiFrancesco JC; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Epilepsy Center, ASST San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy. Electronic address: .
Taglialatela M; Dept. of Neuroscience, University of Naples 'Federico II', Naples, Italy. Electronic address: .
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Źródło :
Pharmacological research [Pharmacol Res] 2020 Oct; Vol. 160, pp. 105200. Date of Electronic Publication: 2020 Sep 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Neurological phenotype of Potocki-Lupski syndrome.
Autorzy :
Ciaccio C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pantaleoni C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, Milan, Italy.
Alfei E; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Pediatric Neurology Unit-Vittore Buzzi Children's Hospital-ASST Fatebenefratelli-Sacco, Milan, Italy.
Sciacca FL; Laboratory of Cytogenetic, Neurological Biochemistry and Neuropharmacology Unit, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Erbetta A; Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
D'Arrigo S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2317-2324. Date of Electronic Publication: 2020 Aug 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Hemodynamic and EEG Time-Courses During Unilateral Hand Movement in Patients with Cortical Myoclonus. An EEG-fMRI and EEG-TD-fNIRS Study
Autorzy :
Visani, E.
Canafoglia, L.
Gilioli, I.
Sebastiano, D. Rossi
Contarino, V. E.
Duran, D.
Panzica, F.
Cubeddu, R.
Contini, D.
Zucchelli, L.
Spinelli, L.
Caffini, M.
Molteni, E.
Bianchi, A. M.
Cerutti, S.
Franceschetti, S.
Torricelli, A.
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Źródło :
Brain Topography: A Journal of Cerebral Function and Dynamics. November 2015 28(6):915-925
Czasopismo naukowe
Tytuł :
Interrater agreement of classification of photoparoxysmal electroencephalographic response.
Autorzy :
Beniczky S; Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund and Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Aurlien H; Section for Clinical Neurophysiology, Department of Neurology, Haukeland University Hospital, Bergen, Norway.
Franceschetti S; Neurophysiology Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
Martins da Silva A; Neurophysiology Section, Department of Neurosciences, Hospital Santo António, CHU Porto and UMIB/ICBAS-University of Porto, Porto, Portugal.
Bisulli F; IRCCS Bologna Institute of Neurological Sciences, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Bentes C; Neurology Department, Santa Maria Hospital-CHULN, Lisbon, Portugal.; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Canafoglia L; Neurophysiology Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
Ferri L; IRCCS Bologna Institute of Neurological Sciences, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Krýsl D; Department of Clinical Neurophysiology, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Neuroscience and Physiology at Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Rita Peralta A; Neurology Department, Santa Maria Hospital-CHULN, Lisbon, Portugal.; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Rácz A; Department of Epileptology, University Hospital Bonn, Bonn, Germany.
Cross JH; University College London Great Ormond Street National Institute for Health Research Biomedical Research Centre Institute of Child Health, Great Ormond Street Hospital for Children National Health Service Trust, London, UK.
Arzimanoglou A; Department of Pediatric Clinical Epileptology, Sleep Disorders, and Functional Neurology, University Hospitals of Lyon, Lyon, France.; Epilepsy Unit, San Juan de Dios Hospital, University of Barcelona, Barcelona, Spain.
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Źródło :
Epilepsia [Epilepsia] 2020 Sep; Vol. 61 (9), pp. e124-e128. Date of Electronic Publication: 2020 Sep 19.
Typ publikacji :
Journal Article
MeSH Terms :
Electroencephalography*
Brain/*physiopathology
Epilepsy/*classification
Photosensitivity Disorders/*classification
Adolescent ; Adult ; Child ; Child, Preschool ; Epilepsies, Myoclonic/physiopathology ; Epilepsy/physiopathology ; Epilepsy, Absence/physiopathology ; Female ; Humans ; Infant ; Lafora Disease/physiopathology ; Male ; Middle Aged ; Mitochondrial Encephalomyopathies/physiopathology ; Myoclonic Epilepsy, Juvenile/physiopathology ; Neurofibromatosis 1/physiopathology ; Neuronal Ceroid-Lipofuscinoses/physiopathology ; Observer Variation ; Photic Stimulation ; Photosensitivity Disorders/physiopathology ; Reproducibility of Results ; Rett Syndrome/physiopathology ; Young Adult
Czasopismo naukowe
Tytuł :
Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation.
Autorzy :
Visani E; Department of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Mariotti C; Department of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nanetti L; Department of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Mongelli A; Department of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Castaldo A; Department of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Panzica F; Department of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Rossi Sebastiano D; Department of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nigri A; Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Grisoli M; Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Department of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address: .
Canafoglia L; Department of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2020 Jul; Vol. 131 (7), pp. 1548-1555. Date of Electronic Publication: 2020 Apr 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
Autorzy :
Di Matteo F; Max Planck Institute of Psychiatry, Munich, Germany.; International Max Planck Research School for Translational Psychiatry (IMPRS-TP), Munich, Germany.
Pipicelli F; Max Planck Institute of Psychiatry, Munich, Germany.; International Max Planck Research School for Translational Psychiatry (IMPRS-TP), Munich, Germany.
Kyrousi C; Max Planck Institute of Psychiatry, Munich, Germany.
Tovecci I; Max Planck Institute of Psychiatry, Munich, Germany.; Department of Biology, University Federico II, Naples, Italy.
Penna E; Department of Biology, University Federico II, Naples, Italy.
Crispino M; Department of Biology, University Federico II, Naples, Italy.
Chambery A; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta, Italy.
Russo R; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta, Italy.
Ayo-Martin AC; Max Planck Institute of Psychiatry, Munich, Germany.; International Max Planck Research School for Translational Psychiatry (IMPRS-TP), Munich, Germany.
Giordano M; Max Planck Institute of Psychiatry, Munich, Germany.
Hoffmann A; Max Planck Institute of Psychiatry, Munich, Germany.
Ciusani E; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Götz M; Physiological Genomics, Biomedical Center (BMC), Ludwig-Maximilians-Universitaet (LMU), Planegg/Martinsried, Germany.; Helmholtz Center Munich, Biomedical Center (BMC), Institute of Stem Cell Research, Planegg/Martinsried, Germany.; SyNergy Excellence Cluster, Munich, Germany.
Di Giaimo R; Max Planck Institute of Psychiatry, Munich, Germany.; Department of Biology, University Federico II, Naples, Italy.
Cappello S; Max Planck Institute of Psychiatry, Munich, Germany.
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Źródło :
EMBO molecular medicine [EMBO Mol Med] 2020 Jun 08; Vol. 12 (6), pp. e11419. Date of Electronic Publication: 2020 May 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
FDG-PET assessment and metabolic patterns in Lafora disease.
Autorzy :
Muccioli L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Farolfi A; Nuclear Medicine Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.
Pondrelli F; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
d'Orsi G; Epilepsy Centre, Clinic of Nervous System Diseases, Ospedali Riuniti, University of Foggia, Foggia, Italy.
Michelucci R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Department of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Licchetta L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
Toni F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
Bonfiglioli R; Nuclear Medicine Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.
Civollani S; Medical Physics Unit, S. Orsola Hospital, Bologna, Italy.
Pettinato C; Medical Physics Unit, S. Orsola Hospital, Bologna, Italy.
Maietti E; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Marotta G; Nuclear Medicine Unit, IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.
Fanti S; Nuclear Medicine Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.
Tinuper P; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
Bisulli F; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. .; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. .
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Źródło :
European journal of nuclear medicine and molecular imaging [Eur J Nucl Med Mol Imaging] 2020 Jun; Vol. 47 (6), pp. 1576-1584. Date of Electronic Publication: 2019 Dec 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
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.
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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

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