المؤلفون: Danielsson, A, Carecchio, M, Cif, L, Koy, A, Lin, JP, Solders, G, Romito, L, Lohmann, K, Garavaglia, B, Reale, C, Zorzi, G, Nardocci, N, Coubes, P, Gonzalez, V, Roubertie, A, Collod-Beroud, G, Lind, G, Tedroff, K

المصدر: Journal of clinical medicine. 8(12)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142711185

المؤلفون: Freri E; Department of Paediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Canafoglia L; Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ciaccio C; Department of Paediatric Neuroscience, European Reference Network ITHACA, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Rossi Sebastiano D; Neurophysiopathology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Caputo D; Department of Paediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Solazzi R; Department of Paediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sciacca FL; Laboratory of Cytogenetics, Unit of Neurological Biochemistry and Neuropharmacology, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy., Panzica F; Clinical Engineering, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Granata T; Department of Paediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Franceschetti S; Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Nardocci N; Department of Paediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jul; Vol. 39 (7), pp. 1238-1240. Date of Electronic Publication: 2024 Apr 21.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Myoclonus*/genetics , Myoclonus*/physiopathology , Chorea*/genetics , Chorea*/physiopathology, Humans ; Male ; Female

المؤلفون: Duga V; Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Child and Adolescent Neuropsychiatric Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Giossi R; Poison Control Center and Clinical Pharmacology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milano, Italy.; Department of Research and Clinical Development, Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Romito LM; Movement Disorders Unit, Neurology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Stanziano M; Neuroradiology Unit, Department of Technology and Diagnosis, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Levi V; Functional Neurosurgery Unit, Neurosurgery Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Panteghini C; Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Zorzi G; Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Nardocci N; Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jul; Vol. 39 (7), pp. 1131-1144. Date of Electronic Publication: 2024 Apr 22.

نوع المنشور: Journal Article; Meta-Analysis; Systematic Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Deep Brain Stimulation*/methods , Globus Pallidus*, Child ; Female ; Humans ; Male ; Cohort Studies ; Dystonia/therapy ; Dystonic Disorders/therapy ; Dystonic Disorders/physiopathology ; Retrospective Studies ; Treatment Outcome

المؤلفون: Amato ME; Department of Paediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain., Darling A; Department of Paediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain., Stovickova L; Centre of Hereditary Ataxias, Department of Pediatric Neurology, Second Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic., Attard S; Pediatric Neurology Department, Mater Dei Hospital, Malta., Eggink H; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands., Engelen M; Department of Pediatric Neurology/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, 1100 DD, the Netherlands., Freilinger M; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Grosso S; Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy., Hadzsiev K; Department of Medical Genetics, Medical School, University of Pécs, Pécs, Hungary., Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Nardocci N; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Neubauer D; Department of Child, Adolescent & Developmental Neurology, University Children's Hospital, Ljubljana, Slovenia., Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Pagliano E; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Siegert S; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Soler D; Pediatric Neurology Department, Mater Dei Hospital, Malta., van de Pol LA; Department of Child Neurology, Amsterdam UMC, Vrije Universiteit, De Boelelaan, 1117, Amsterdam, the Netherlands; Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9, Amsterdam, the Netherlands., Vasco G; Unit of Neurorehabilitation, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Vidailhet M; Department of Neurology, Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France., Willemsen MA; Department of Pediatric Neurology, Donders Centre for Neuroscience, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Zibordi F; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Zorzi G; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Zumrova A; Centre of Hereditary Ataxias, Department of Pediatric Neurology, Second Faculty of Medicine and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic., Reinhard C; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany., Sevin C; Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France., Wolf N; Department of Child Neurology, Amsterdam Leukodystrophy Center, Amsterdam UMC Location Vrije Universiteit Amsterdam, Emma's Children's Hospital, Boelelaan, 1117, Amsterdam, the Netherlands; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, the Netherlands., Rodriguez-Blazquez C; National Centre for Epidemiology and CIBERNED, Carlos III Institute of Health, Madrid, Spain., Sival DA; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, the Netherlands; Department of Pediatric Neurology, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, the Netherlands., Ortigoza-Escobar JD; Department of Paediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. Electronic address: juandario.ortigoza@sjd.es.

مؤلفون مشاركون: Pediatric issues working group of the European Reference Network for Rare Neurological Diseases (ERN-RND)

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Jun 29; Vol. 52, pp. 10-19. Date of Electronic Publication: 2024 Jun 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

المؤلفون: Casellato, C., Pedrocchi, A., Zorzi, G., Vernisse, L., Ferrigno, G., Nardocci, N.

المصدر: IEEE Transactions on Neural Systems and Rehabilitation Engineering IEEE Trans. Neural Syst. Rehabil. Eng. Neural Systems and Rehabilitation Engineering, IEEE Transactions on. 21(3):474-480 May, 2013

المؤلفون: Levi, Vincenzo^Aff1, Franzini, A., Rinaldo, S., Coelli, S., Bianchi, A. M., Franzini, A., Nardocci, N., Eleopra, R., Zorzi, G.

المصدر: Acta Neurochirurgica: The European Journal of Neurosurgery. 163(1):211-217

المؤلفون: Catania, A.^{Aff1, Aff2}, Battini, R.^{Aff3, Aff4}, Pippucci, T., Pasquariello, R., Chiapparini, M. L., Seri, M., Garavaglia, B., Zorzi, G., Nardocci, N., Ghezzi, D.^{Aff1, Aff9}, Tiranti, V.^Aff1

المصدر: neurogenetics. 19(3):179-187

المؤلفون: Serpieri V; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Mortarini G; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Loucks H; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Biagini T; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy., Micalizzi A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Palmieri I; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, Washington, USA., D'Abrusco F; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Mazzotta C; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Battini R; Department of Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Boltshauser E; Departement of Pediatric Neurology, University Children's Hospital Zürich, Zurich, Switzerland., Borgatti R; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Brockmann K; Interdisciplinary Pediatric Centre for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Centre, Georg August University, Göttingen, Germany., D'Arrigo S; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'C Besta', Milan, Italy., Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'C Besta', Milan, Italy., Fischetto R; Clinical Genetics Unit, Department of Pediatric Medicine, Giovanni XXIII Children's Hospital, Bari, Italy., Agolini E; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Romano A; Section of Pediatrics, Department of Medical Translational Sciences, University of Naples Federico II, Naples, Italy., Romaniello R; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bozen, Bozen, Italy., Signorini S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Strisciuglio P; Section of Pediatrics, Department of Medical Translational Sciences, University of Naples Federico II, Naples, Italy., Gana S; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Mazza T; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy., Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Valente EM; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy enzamaria.valente@unipv.it.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

المصدر: Journal of medical genetics [J Med Genet] 2023 Sep; Vol. 60 (9), pp. 885-893. Date of Electronic Publication: 2023 Feb 14.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Eye Abnormalities*/genetics , Kidney Diseases, Cystic*/genetics, Humans ; Cerebellum/abnormalities ; Retina/abnormalities

SCR Disease Name: Agenesis of Cerebellar Vermis

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المؤلفون: Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Mencacci NE; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA., Invernizzi F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany., Keller Sarmiento IJ; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA., Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Frascarelli C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Bustos BI; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA., Romito LM; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Krainc D; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA., Winkelmann J; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, 81675 Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany., Carecchio M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Department Neuroscience, University of Padua, 35128 Padua, Italy.; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Zorzi G; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Prokisch H; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany., Lubbe SJ; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago 60611, IL, USA., Garavaglia B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.

المصدر: Brain : a journal of neurology [Brain] 2023 Jul 03; Vol. 146 (7), pp. 2730-2738.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Dystonia*/genetics , Dystonic Disorders*/genetics, Humans ; Mitochondrial Proton-Translocating ATPases/genetics ; Mutation, Missense ; Pedigree ; Proteins/genetics