Autor: "Canafoglia, L." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Brivaracetam as Early Add-On Treatment in Patients with Focal Seizures: A Retrospective, Multicenter, Real-World Study.
Autorzy:: Lattanzi S; Department of Experimental and Clinical Medicine, Neurological Clinic, Marche Polytechnic University, Via Conca 71, 60020, Ancona, Italy. .
Canafoglia L; Department of Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canevini MP; Child Neuropsychiatry Unit, Epilepsy Center, AAST Santi Paolo Carlo, Milan, Italy.; Department of Health Sciences, Università degli Studi, Milan, Italy.
Casciato S; IRCCS Neuromed, Pozzilli, Italy.
Cerulli Irelli E; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
Chiesa V; Child Neuropsychiatry Unit, Epilepsy Center, AAST Santi Paolo Carlo, Milan, Italy.
Dainese F; Neurology Unit, Epilepsy Centre, Venice, Italy.
De Maria G; Clinical Neurophysiology Unit, Epilepsy Center, Spedali Civili, Brescia, Italy.
Didato G; Epilepsy Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
Di Gennaro G; IRCCS Neuromed, Pozzilli, Italy.
Falcicchio G; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University Hospital of Bari 'A. Moro', Bari, Italy.
Fanella M; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
Ferlazzo E; Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Catanzaro, Italy.
Gangitano M; Department of Biomedicine, Neuroscience, and Advanced Diagnostic (BIND), University of Palermo, Palermo, Italy.
La Neve A; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University Hospital of Bari 'A. Moro', Bari, Italy.
Mecarelli O; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
Montalenti E; Epilepsy Center, AOU Città della Salute e della Scienza di Torino, Turin, Italy.
Morano A; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
Piazza F; 'Rita Levi Montalcini' Department of Neurosciences, University of Turin, Turin, Italy.
Pizzanelli C; Department of Translational Research on New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.; Neurology Unit, Pisa University Hospital, Pisa, Italy.
Pulitano P; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
Ranzato F; Epilepsy Center, UOC Neurology, AULSS 8 Vicenza, Vicenza, Italy.
Rosati E; Department Neurology 2, Careggi University Hospital, Florence, Italy.
Tassi L; 'C. Munari' Epilepsy Surgery Centre, Niguarda Hospital, Milan, Italy.
Di Bonaventura C; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Pokaż więcej
Corporate Authors:: BRIVAracetam add-on First Italian netwoRk Study (BRIVAFIRST) Group
Źródło:: Neurology and therapy [Neurol Ther] 2022 Dec; Vol. 11 (4), pp. 1789-1804. Date of Electronic Publication: 2022 Sep 16.
Typ publikacji:: Journal Article

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Skocz do pozycji: 2.

Tytuł:: Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation.
Autorzy:: Cimini S; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Bellini S; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Saraceno C; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Benussi L; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Ghidoni R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Giliani SC; Department of Molecular and Translational Medicine, 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, ASST Spedali Civili, 25123 Brescia, Italy.
Puoti G; Department of Advanced Medical and Surgical Sciences, University of Campania 'L. Vanvitelli', 80131 Naples, Italy.
Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Giaccone G; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Rossi G; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Nov 09; Vol. 23 (22). Date of Electronic Publication: 2022 Nov 09.
Typ publikacji:: Journal Article
MeSH Terms:: Extracellular Vesicles*/genetics
Frontotemporal Dementia*
Frontotemporal Lobar Degeneration*/genetics
Humans ; Cell Line ; DNA-Binding Proteins/genetics ; Mutation ; Progranulins/genetics

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Skocz do pozycji: 3.

Tytuł:: Plasma Small Extracellular Vesicle Cathepsin D Dysregulation in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration.
Autorzy:: Bellini S; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Saraceno C; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Benussi L; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Geviti A; Service of Statistics, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Longobardi A; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Nicsanu R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Cimini S; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Ricci M; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Coppola C; Department of Advanced Medical and Surgical Sciences, University of Campania 'L. Vanvitelli', 80131 Naples, Italy.
Puoti G; Department of Advanced Medical and Surgical Sciences, University of Campania 'L. Vanvitelli', 80131 Naples, Italy.
Binetti G; MAC-Memory Clinic and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Rossi G; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Ghidoni R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Sep 14; Vol. 23 (18). Date of Electronic Publication: 2022 Sep 14.
Typ publikacji:: Journal Article
MeSH Terms:: Extracellular Vesicles*/metabolism
Frontotemporal Dementia*
Frontotemporal Lobar Degeneration*/metabolism
C9orf72 Protein/genetics ; Cathepsin D/genetics ; Humans ; Mutation ; Progranulins/genetics ; Protein Aggregates ; Retrospective Studies

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Skocz do pozycji: 4.

Tytuł:: Significance and clinical suggestions for the somatosensory evoked potentials increased in amplitude revealed by a large sample of neurological patients.
Autorzy:: Rossi Sebastiano D; Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy. .
Cazzato D; Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Visani E; Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Dalla Bella E; Neuroalgology Unit and ALS Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Brambilla L; Autoimmune and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Devigili G; Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Caroppo P; Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Nanetti L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Salsano E; Unit of Neurodegenerative and Neurometabolic Rare Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Canafoglia L; Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Canavero I; Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Anghileri E; Molecular Neuroncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Bonfoco D; Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Lanteri P; Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.; Pokaż więcej
Źródło:: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Sep; Vol. 43 (9), pp. 5553-5562. Date of Electronic Publication: 2022 Jun 27.
Typ publikacji:: Journal Article
MeSH Terms:: Epilepsies, Myoclonic*
Epilepsy*
Myoclonus*
Electroencephalography ; Evoked Potentials, Somatosensory/physiology ; Humans ; Median Nerve ; Somatosensory Cortex/physiology

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Skocz do pozycji: 5.

Tytuł:: Plasma Small Extracellular Vesicles with Complement Alterations in GRN / C9orf72 and Sporadic Frontotemporal Lobar Degeneration.
Autorzy:: Bellini S; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Saraceno C; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Benussi L; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Squitti R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Cimini S; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Ricci M; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Coppola C; Department of Advanced Medical and Surgical Sciences, University of Campania 'L. Vanvitelli', 80131 Naples, Italy.
Puoti G; Department of Advanced Medical and Surgical Sciences, University of Campania 'L. Vanvitelli', 80131 Naples, Italy.
Ferrari C; Service of Statistics, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Longobardi A; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Nicsanu R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Lombardi M; CNR Institute of Neuroscience, 20129 Milan, Italy.
D'Arrigo G; CNR Institute of Neuroscience, 20129 Milan, Italy.
Verderio C; CNR Institute of Neuroscience, 20129 Milan, Italy.
Binetti G; MAC-Memory Clinic and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.
Rossi G; Unit of Neurology V-Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Ghidoni R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25125 Brescia, Italy.; Pokaż więcej
Źródło:: Cells [Cells] 2022 Jan 30; Vol. 11 (3). Date of Electronic Publication: 2022 Jan 30.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: C9orf72 Protein*/genetics
Complement System Proteins*/genetics
Extracellular Vesicles*/metabolism
Frontotemporal Dementia*
Frontotemporal Lobar Degeneration*/genetics
Frontotemporal Lobar Degeneration*/metabolism
Frontotemporal Lobar Degeneration*/pathology
Progranulins*/genetics
Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Retrospective Studies

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Skocz do pozycji: 6.

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. .; Pokaż więcej
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; Systematic Review
MeSH Terms:: Fluorodeoxyglucose F18*
Lafora Disease*/diagnostic imaging
Lafora Disease*/genetics
Brain/diagnostic imaging ; Humans ; Positron-Emission Tomography ; Prospective Studies ; Retrospective Studies ; Ubiquitin-Protein Ligases

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Skocz do pozycji: 7.

Tytuł:: Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
Autorzy:: Mosca R; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
van de Vlekkert D; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Campos Y; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Fremuth LE; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.; Department of Anatomy and Neurobiology, College of Graduate Health Sciences, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Cadaoas J; Ultragenyx Pharmaceutical, Novato, CA 94949, USA.
Koppaka V; Ultragenyx Pharmaceutical, Novato, CA 94949, USA.
Kakkis E; Ultragenyx Pharmaceutical, Novato, CA 94949, USA.
Tifft C; Office of the Clinical Director & Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NHGRI), Bethesda, MD 20892, USA.
Toro C; Undiagnosed Disease Network, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Allievi S; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Canafoglia L; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Annunziata I; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
d'Azzo A; Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.; Pokaż więcej
Źródło:: Journal of clinical medicine [J Clin Med] 2020 Mar 04; Vol. 9 (3). Date of Electronic Publication: 2020 Mar 04.
Typ publikacji:: Journal Article

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Skocz do pozycji: 8.

Tytuł:: Epileptic phenotypes in children with early-onset mitochondrial diseases.
Autorzy:: Matricardi S; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Neuropsychiatry, Children's Hospital 'G. Salesi', Ospedali Riuniti Ancona, Ancona, Italy.
Canafoglia L; Department of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ardissone A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Moroni I; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ghezzi D; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Lamantea E; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Franceschetti S; Department of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Pokaż więcej
Źródło:: Acta neurologica Scandinavica [Acta Neurol Scand] 2019 Sep; Vol. 140 (3), pp. 184-193. Date of Electronic Publication: 2019 Jun 06.
Typ publikacji:: Journal Article
MeSH Terms:: Epilepsy/*epidemiology
Mitochondrial Diseases/*epidemiology
Adolescent ; Child ; Child, Preschool ; Epilepsy/etiology ; Epilepsy/pathology ; Female ; Humans ; Infant ; Male ; Mitochondrial Diseases/complications ; Mitochondrial Diseases/pathology ; Phenotype

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Skocz do pozycji: 9.

Tytuł:: Treatment with metformin in twelve patients with Lafora disease.
Autorzy:: Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. .; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. .
Muccioli L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
d'Orsi G; Epilepsy Centre, Clinic of Nervous System Diseases, University of Foggia, Ospedali Riuniti, Foggia, Italy.
Canafoglia L; Department of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Freri E; Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Mostacci B; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
Riguzzi P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
Pondrelli F; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Avolio C; Epilepsy Centre, Clinic of Nervous System Diseases, University of Foggia, Ospedali Riuniti, Foggia, Italy.
Martino T; Epilepsy Centre, Clinic of Nervous System Diseases, University of Foggia, Ospedali Riuniti, Foggia, Italy.
Michelucci R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
Tinuper P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Jun 21; Vol. 14 (1), pp. 149. Date of Electronic Publication: 2019 Jun 21.
Typ publikacji:: Letter
MeSH Terms:: Lafora Disease/*drug therapy
Metformin/*therapeutic use
Adolescent ; Animals ; Disease Models, Animal ; Female ; Humans ; Lafora Disease/genetics ; Male ; Mutation/genetics ; Myoclonic Epilepsies, Progressive/genetics ; Protein Tyrosine Phosphatases, Non-Receptor/genetics ; Retrospective Studies ; Ubiquitin-Protein Ligases/genetics

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Skocz do pozycji: 10.

Tytuł:: Neurophysiological and BOLD signal uncoupling of giant somatosensory evoked potentials in progressive myoclonic epilepsy: a case-series study.
Autorzy:: Storti SF; Department of Computer Science, University of Verona, Verona, Italy.
Del Felice A; Department of Neuroscience-DSN, University of Padova, Padova, Italy.
Canafoglia L; Neurophysiopathology and Epilepsy Centre, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
Formaggio E; Foundation IRCCS San Camillo Hospital, Venice, Italy.
Brigo F; Franz Tappeiner Hospital, Department of Neurology, Merano, Italy.
Alessandrini F; University Hospital Verona, Department of Neuroradiology, Verona, Italy.
Bongiovanni LG; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Italy.
Menegaz G; Department of Computer Science, University of Verona, Verona, Italy.
Manganotti P; Department of Medical, Surgical and Health Sciences, Clinical Neurology Unit, Cattinara University Hospital, Trieste, Italy.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2017 Mar 15; Vol. 7, pp. 44664. Date of Electronic Publication: 2017 Mar 15.
Typ publikacji:: Journal Article
MeSH Terms:: Neurophysiological Monitoring*
Evoked Potentials, Somatosensory/*physiology
Myoclonic Epilepsies, Progressive/*physiopathology
Somatosensory Cortex/*physiopathology
Adult ; Brain Mapping ; Electric Stimulation ; Electroencephalography ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Median Nerve/diagnostic imaging ; Median Nerve/metabolism ; Median Nerve/physiopathology ; Middle Aged ; Myoclonic Epilepsies, Progressive/blood ; Myoclonic Epilepsies, Progressive/diagnosis ; Myoclonic Epilepsies, Progressive/diagnostic imaging ; Oxygen/blood ; Reaction Time ; Somatosensory Cortex/diagnostic imaging ; Somatosensory Cortex/metabolism

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Skocz do pozycji: 11.

Tytuł:: The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.
Autorzy:: Franceschetti S; Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy. .
Canafoglia L; Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy.
Rotondi F; Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy.; Department of Informatics, Bioengineering, Robotics and System Engineering (DIBRIS), University of Genova, Genova, Italy.
Visani E; Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy.
Granvillano A; Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy.
Panzica F; Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy.; Pokaż więcej
Źródło:: BMC neurology [BMC Neurol] 2016 Nov 07; Vol. 16 (1), pp. 214. Date of Electronic Publication: 2016 Nov 07.
Typ publikacji:: Journal Article
MeSH Terms:: Myoclonus/*physiopathology
Unverricht-Lundborg Syndrome/*physiopathology
Adult ; Aged ; Case-Control Studies ; Electromyography ; Female ; Humans ; Magnetoencephalography ; Male ; Middle Aged ; Recruitment, Neurophysiological ; Young Adult

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Skocz do pozycji: 12.

Tytuł:: Thrombosis in essential thrombocytemia and early/prefibrotic primary myelofibrosis: the role of the WHO histological diagnosis.
Autorzy:: Rupoli S; Department of Clinical and Molecular Sciences, Clinic of Hematology, Polytechnic University of Marche Region, Ancona, Italy. .
Goteri G; Department of Biomedical Sciences and Public Health, Section of Pathologic Anatomy and Histopathology, Polytechnic University of Marche Region, Torrette, Ancona, Italy. .
Picardi P; Department of Clinical and Molecular Sciences, Clinic of Hematology, Polytechnic University of Marche Region, Ancona, Italy. .
Micucci G; Department of Clinical and Molecular Sciences, Clinic of Hematology, Polytechnic University of Marche Region, Ancona, Italy. .
Canafoglia L; Department of Clinical and Molecular Sciences, Clinic of Hematology, Polytechnic University of Marche Region, Ancona, Italy. .
Scortechini AR; Department of Clinical and Molecular Sciences, Clinic of Hematology, Polytechnic University of Marche Region, Ancona, Italy. .
Federici I; Department of Clinical and Molecular Sciences, Clinic of Hematology, Polytechnic University of Marche Region, Ancona, Italy. .
Giantomassi F; Department of Biomedical Sciences and Public Health, Section of Pathologic Anatomy and Histopathology, Polytechnic University of Marche Region, Torrette, Ancona, Italy. .
Da Lio L; Clinical Pathology, United Ancona Hospital, Ancona, Italy. .
Zizzi A; Department of Biomedical Sciences and Public Health, Section of Pathologic Anatomy and Histopathology, Polytechnic University of Marche Region, Torrette, Ancona, Italy. .
Honorati E; Department of Clinical and Molecular Sciences, Clinic of Hematology, Polytechnic University of Marche Region, Ancona, Italy. .
Leoni P; Department of Clinical and Molecular Sciences, Clinic of Hematology, Polytechnic University of Marche Region, Ancona, Italy. .; Pokaż więcej
Źródło:: Diagnostic pathology [Diagn Pathol] 2015 Apr 16; Vol. 10, pp. 29. Date of Electronic Publication: 2015 Apr 16.
Typ publikacji:: Comparative Study; Journal Article
MeSH Terms:: World Health Organization*
Primary Myelofibrosis/*diagnosis
Thrombocythemia, Essential/*diagnosis
Venous Thrombosis/*etiology
Adult ; Age Factors ; Aged ; Aged, 80 and over ; Bone Marrow Examination ; Chi-Square Distribution ; Databases, Factual ; Diagnosis, Differential ; Diagnostic Errors ; Disease-Free Survival ; Early Diagnosis ; Female ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Predictive Value of Tests ; Primary Myelofibrosis/classification ; Primary Myelofibrosis/complications ; Proportional Hazards Models ; Risk Assessment ; Risk Factors ; Thrombocythemia, Essential/classification ; Thrombocythemia, Essential/complications ; Venous Thrombosis/diagnosis ; Young Adult

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Pełny tekst Szczegóły

Skocz do pozycji: 13.

Tytuł:: A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Autorzy:: Muona M; 1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Folkhälsan Institute of Genetics, Helsinki, Finland. [3] Neuroscience Center, University of Helsinki, Helsinki, Finland. [4] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Berkovic SF; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Dibbens LM; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
Oliver KL; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Maljevic S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Bayly MA; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
Joensuu T; 1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Canafoglia L; Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Franceschetti S; Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Michelucci R; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
Markkinen S; 1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Heron SE; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
Hildebrand MS; Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Andermann E; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Andermann F; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Gambardella A; Institute of Neurology, University Magna Graecia, Catanzaro, Italy.
Tinuper P; 1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Licchetta L; 1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Scheffer IE; 1] Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. [2] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [3] Department of Pediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.
Criscuolo C; Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.
Filla A; Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.
Ferlazzo E; 1] Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. [2] Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
Ahmad J; Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan.
Ahmad A; Department of Medicine, Mayo Hospital, Lahore, Pakistan.
Baykan B; 1] Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. [2] Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey.
Said E; 1] Department of Anatomy and Cell Biology, University of Malta, Msida, Malta. [2] Section of Medical Genetics, Mater dei Hospital, Msida, Malta.
Topcu M; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Riguzzi P; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
King MD; 1] Department of Neurology, Temple Street Children's University Hospital, Dublin, Ireland. [2] Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Ozkara C; Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
Andrade DM; Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Ontario, Canada.
Engelsen BA; 1] Department of Clinical Medicine, University of Bergen, Bergen, Norway. [2] Department of Neurology, Haukeland University Hospital, Bergen, Norway.
Crespel A; Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.
Lindenau M; Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.
Lohmann E; 1] Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany. [2] Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [3] German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Saletti V; Developmental Neurology Unit, C. Besta Foundation Neurological Institute, IRCCS, Milan, Italy.
Massano J; 1] Department of Neurology, Centro Hospitalar São João, Porto, Portugal. [2] Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal.
Privitera M; Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA.
Espay AJ; Gardner Center for Parkinson Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA.
Kauffmann B; Klinikum Links der Weser, Bremen, Germany.
Duchowny M; 1] Brain Institute, Miami Children's Hospital, Miami, Florida, USA. [2] Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Møller RS; 1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark.
Straussberg R; 1] Neurogenetic Clinic, Child Neurology Institute, Schneider Children's Medical Center of Israel, Petah Tiqvah, Israel. [2] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel.
Afawi Z; 1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Zlotowski Center for Neuroscience, Ben-Gurion University, Beer-Sheva, Israel.
Ben-Zeev B; 1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Pediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.
Samocha KE; 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.
Daly MJ; 1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Petrou S; 1] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [2] Centre for Neural Engineering, University of Melbourne, Melbourne, Victoria, Australia.
Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Palotie A; 1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [3] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [5] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. [6] Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA. [7] Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Lehesjoki AE; 1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.; Pokaż więcej
Źródło:: Nature genetics [Nat Genet] 2015 Jan; Vol. 47 (1), pp. 39-46. Date of Electronic Publication: 2014 Nov 17.
Typ publikacji:: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation, Missense*
Point Mutation*
Myoclonic Epilepsies, Progressive/*genetics
Shaw Potassium Channels/*genetics
Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Base Sequence ; Carrier Proteins/genetics ; Conserved Sequence ; Exome ; Female ; GTPase-Activating Proteins ; Genes, Dominant ; Heat-Shock Proteins/genetics ; Humans ; Male ; Membrane Proteins ; Molecular Sequence Data ; Nerve Tissue Proteins ; Pedigree ; Prion Proteins ; Prions/genetics ; Protein Conformation ; Sequence Alignment ; Sequence Homology, Amino Acid ; Shaw Potassium Channels/physiology ; Species Specificity