Zobrazeno 1 - 10
of 2 824
pro vyhledávání: '"La Morgia, C."'
Publikováno v:
Il Foro Italiano, 1972 Jan 01. 95, 377/378-383/384.
Externí odkaz:
https://www.jstor.org/stable/23165368
Autor:
La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy., Cascavilla ML; Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy., De Negri AM; Azienda Ospedaliera San Camillo-Forlanini, Rome, Italy., Romano M; Azienda Ospedaliera Ospedali Riuniti Villa Sofia Cervello, Palermo, Italy., Canalini F; Chiesi Italia S.p.A, Parma, Italy., Rossi S; Chiesi Italia S.p.A, Parma, Italy., Centonze D; Department of Systems Medicine, Tor Vergata University, Rome, Italy.; Unit of Neurology, IRCCS Neuromed, Pozzilli, Italy., Filippi M; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.
Publikováno v:
Frontiers in neurology [Front Neurol] 2024 Sep 19; Vol. 15, pp. 1466275. Date of Electronic Publication: 2024 Sep 19 (Print Publication: 2024).
Autor:
Giannoccaro MP; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy., Morelli L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Ricciardiello F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Donadio V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Bartiromo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Tonon C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy., Carbonelli M; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy., Amore G; Ophthalmology Unit, Dipartimento di Scienze Mediche e Chirurgiche, Alma Mater Studiorum University of Bologna, Bologna, Italy.; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy., Liguori R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Sep; Vol. 31 (9), pp. e16344. Date of Electronic Publication: 2024 May 17.
Autor:
Blickhäuser B; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany., Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Neuhofer CM; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Floride E; Institute for Human Genetics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Nesbitt V; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Fratter C; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Koch J; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands., Kauffmann B; Klinikum Bremen Mitte, Department of Pediatrics, Neuropediatrics, 28205 Bremen, Germany., Catarino C; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany., Schlieben LD; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Kopajtich R; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Sadun AA; Doheny Eye Institute, Pasadena, CA 91105, USA.; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA 10833, USA., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK., Fang F; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Paquay S; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium., Nassogne MC; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Wortmann S; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands., Poulton J; Nuffield Department of Women's and Reproductive Health University of Oxford, The Women's Centre, Oxford, OX3 9DU, UK., Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany., Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 1967-1974.
Autor:
Amore G; From the Department of Biomedical and Neuromotor Sciences (G.A., M.C., V.C., C.L.M.), University of Bologna, Bologna, Italy; Ophthalmology Unit (G.A., C.S.), IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. Electronic address: giulia.amore4@unibo.it., Romagnoli M; IRCCS Istituto delle Scienze Neurologiche di Bologna (M.R., D.O., F.P., C.F.L.C.V.C.), Programma di Neurogenetica, Bologna, Italy., Carbonelli M; From the Department of Biomedical and Neuromotor Sciences (G.A., M.C., V.C., C.L.M.), University of Bologna, Bologna, Italy., Cascavilla ML; Department of Ophthalmology (M.L.C., P.B.), University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy., De Negri AM; Azienda Ospedaliera San Camillo-Forlanini (A.M.D.N.), Rome, Italy., Carta A; Ophthalmology Unit (A.C.), University Hospital of Parma, University of Parma, Parma, Italy., Parisi V; IRCCS Fondazione Bietti (V.P. A.D.R.), Rome, Italy., Di Renzo A; IRCCS Fondazione Bietti (V.P. A.D.R.), Rome, Italy., Schiavi C; Ophthalmology Unit (G.A., C.S.), IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Lenzetti C; Department of Surgery and Translational Medicine (C.L.), Eye Clinic, Careggi University Hospital, University of Florence, Florence, Italy., Zenesini C; IRCCS Istituto delle Scienze Neurologiche di Bologna (C.Z.), Unità di Epidemiologia e Statistica, Bologna, Italy., Ormanbekova D; IRCCS Istituto delle Scienze Neurologiche di Bologna (M.R., D.O., F.P., C.F.L.C.V.C.), Programma di Neurogenetica, Bologna, Italy., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna (M.R., D.O., F.P., C.F.L.C.V.C.), Programma di Neurogenetica, Bologna, Italy., Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna (M.R., D.O., F.P., C.F.L.C.V.C.), Programma di Neurogenetica, Bologna, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna (M.R., D.O., F.P., C.F.L.C.V.C.), Programma di Neurogenetica, Bologna, Italy., Carelli V; From the Department of Biomedical and Neuromotor Sciences (G.A., M.C., V.C., C.L.M.), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (M.R., D.O., F.P., C.F.L.C.V.C.), Programma di Neurogenetica, Bologna, Italy., Barboni P; Department of Ophthalmology (M.L.C., P.B.), University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy., La Morgia C; From the Department of Biomedical and Neuromotor Sciences (G.A., M.C., V.C., C.L.M.), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (C.L.M.), UOC Clinica Neurologica, Bologna, Italy.
Publikováno v:
American journal of ophthalmology [Am J Ophthalmol] 2024 Jun; Vol. 262, pp. 114-124. Date of Electronic Publication: 2024 Jan 24.
Autor:
Stanzani-Maserati M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 3, 40139 Bologna, Italy., De Matteis M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 3, 40139 Bologna, Italy., Bosco L; Istituto di Psicologia Individuale 'Alfred Adler', 10125 Torino, Italy., Baccari F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 3, 40139 Bologna, Italy., Zenesini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 3, 40139 Bologna, Italy., Mitolo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 3, 40139 Bologna, Italy., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 3, 40139 Bologna, Italy.; Dipartimento di Scienze Biomediche e NeuroMotorie, Università di Bologna, 40126 Bologna, Italy., Gallassi R; Dipartimento di Scienze Biomediche e NeuroMotorie, Università di Bologna, 40126 Bologna, Italy., Capellari S; IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 3, 40139 Bologna, Italy.; Dipartimento di Scienze Biomediche e NeuroMotorie, Università di Bologna, 40126 Bologna, Italy.
Publikováno v:
Brain sciences [Brain Sci] 2024 May 21; Vol. 14 (6). Date of Electronic Publication: 2024 May 21.
Autor:
Manzoni E; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy., Carli S; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy., Gaignard P; Department of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94275, France., Schlieben LD; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333 Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany., Hirano M; H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10033, USA., Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94270, France., Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan., Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan., Okazaki Y; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan., Barić I; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Petkovic Ramadza D; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Mayr J; University Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy., La Morgia C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy., Primiano G; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy., Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg 20246, Germany., Servidei S; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy., Bris C; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France., Cano A; Centre de référence des maladies héréditaires du métabolisme, CHU la Timone Enfants, Marseille 13005, France., Furlan F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy., Gasperini S; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Laborde N; Unité de Gastroentérologie, Hépatologie, Nutrition et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse, Toulouse 31300, France., Lamperti C; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Neurological Institute 'C. Besta', Milan 20133, Italy., Lenz D; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy., Montano V; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy., Menni F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy., Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy., Nesbitt V; Department of Paediatrics, Medical Sciences Division, Oxford University, Oxford OX3 9DU, UK., Procopio E; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Rouzier C; Centre de référence des Maladies Mitochondriales, Service de Génétique Médicale, CHU de Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice 06000, France., Staufner C; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Taanman JW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Tal G; Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel., Ticci C; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Cordelli DM; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy., Carelli V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy., Procaccio V; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France., Prokisch H; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333 Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany., Garone C; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy.
Publikováno v:
Brain communications [Brain Commun] 2024 May 06; Vol. 6 (3), pp. fcae160. Date of Electronic Publication: 2024 May 06 (Print Publication: 2024).
Autor:
Yu-Wai-Man P; John van Geest Centre for Brain Repair, University of Cambridge, Cambridge CB2 0PY, UK; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0XY, UK; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Carelli V; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Newman NJ; Departments of Ophthalmology, Neurology, and Neurological Surgery, Emory University School of Medicine, Atlanta, GA 30322, USA., Silva MJ; All is Data, 4052 Basel, Switzerland., Linden A; EstiMates Oy, 20520 Turku, Finland., Van Stavern G; Washington University in St. Louis, St. Louis, MO 63130, USA., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, 02-091 Warsaw, Poland; SPKSO Ophthalmic University Hospital, 00-576 Warsaw, Poland., Banik R; New York Eye and Ear Infirmary of Mount Sinai, New York, NY 10003, USA., Lubiński W; Samodzielny Publiczny Szpital Kliniczny Nr 2 PUM w Szczecinie, 70-111 Szczecin, Poland., Pemp B; Department of Ophthalmology, Medical University of Vienna, 1090 Vienna, Austria., Liao YJ; Stanford University Byers Eye Institute, Palo Alto, CA 94303, USA., Subramanian PS; Sue Anschutz-Rodgers University of Colorado Eye Center, Aurora, CO 80045, USA., Misiuk-Hojło M; Wrocław Medical University, 50-556 Wrocław, Poland., Newman S; University of Virginia, Charlottesville, VA 22903, USA., Castillo L; Institut Catala de Retina (ICR), 08022 Barcelona, Spain., Kocięcki J; Department of Ophthalmology, University of Medical Sciences, 60-806 Poznan, Poland., Levin MH; Department of Ophthalmology, Palo Alto Medical Foundation, Palo Alto, CA 94303, USA., Muñoz-Negrete FJ; Hospital Universitario Ramon y Cajal, IRYCIS, Universidad Alcalá, 28034 Madrid, Spain., Yagan A; Manchester Royal Eye Hospital, Manchester M13 9WL, UK., Cherninkova S; UMHAT 'Alexandrovska' EAD, 1431 Sofia, Bulgaria., Katz D; Bethesda Neurology LLC, Bethesda, MD 20852, USA., Meunier A; Department of Ophthalmology, CHU Saint-Pierre, 1000 Brussels, Belgium., Votruba M; Cardiff Eye Unit, University Hospital of Wales, Cardiff CF14 4XW, UK., Korwin M; Department of Ophthalmology, Medical University of Warsaw, 02-091 Warsaw, Poland; SPKSO Ophthalmic University Hospital, 00-576 Warsaw, Poland., Dziedziak J; Department of Ophthalmology, Medical University of Warsaw, 02-091 Warsaw, Poland; SPKSO Ophthalmic University Hospital, 00-576 Warsaw, Poland; Department of Experimental and Clinical Physiology, Center for Preclinical Research, Medical University of Warsaw, 02-097 Warsaw, Poland., Jurkutė N; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK; The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, UK., Harvey JP; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., La Morgia C; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy., Priglinger C; Department of Ophthalmology, University Hospital of the Ludwig-Maximilians-University (LMU), 80336 Munich, Germany., Llòria X; Chiesi Farmaceutici S.p.A., 43100 Parma, Italy., Tomasso L; Chiesi Farmaceutici S.p.A., 43100 Parma, Italy., Klopstock T; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany. Electronic address: thomas.klopstock@med.uni-muenchen.de.
Publikováno v:
Cell reports. Medicine [Cell Rep Med] 2024 Mar 19; Vol. 5 (3), pp. 101437. Date of Electronic Publication: 2024 Feb 29.
Autor:
Brugger M; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Lauri A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Zhen Y; Institute for Cancer Research, Oslo University Hospital, Oslo, Norway., Gramegna LL; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma Neuroimmagini Funzionali e Molecolari, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Zott B; Department of Diagnostic and Interventional Neuroradiology, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Institute of Neuroscience, Technical University of Munich, Munich, Germany., Sekulić N; Centre for Molecular Medicine Norway (NCMM), Nordic EMBL Partnership, Faculty of Medicine, University of Oslo, Oslo, Norway; Department of Chemistry, University of Oslo, P.O. Box 1033, Blindern, Norway., Fasano G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Kopajtich R; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Cordeddu V; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Pizzi S; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Paradisi G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Zanni G; Unit of Muscular and Neurodegenerative Disorders and Unit of Developmental Neurology Piazza S. Onofrio 4, 00165 Rome, Italy., Vasco G; Department of Neurorehabilitation and Robotics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Carrozzo R; Translational Pediatrics and Clinical Genetics Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Palombo F; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Tonon C; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma Neuroimmagini Funzionali e Molecolari, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Lodi R; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma Neuroimmagini Funzionali e Molecolari, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., La Morgia C; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Arelin M; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany., Blechschmidt C; Department of Neuropathology, Hospital Nürnberg, Nürnberg, Germany., Finck T; Department of Diagnostic and Interventional Neuroradiology, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany., Sørensen V; Institute for Cancer Research, Oslo University Hospital, Oslo, Norway., Kreiser K; Department of Radiology and Neuroradiology, Rehabilitation and University Hospital Ulm, Ulm, Germany., Strobl-Wildemann G; Praxis für Humangenetik, Ulm, Germany., Daum H; Department of Genetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Michaelson-Cohen R; Department of Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Medical Genetics Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Ziccardi L; IRCCS-Fondazione Bietti, Rome, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica Sacro Cuore, Rome, Italy., Prokisch H; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Abou Jamra R; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Fiorini C; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Arzberger T; Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilians-University, Munich, Germany; Center for Neuropathology and Prion Research, University Hospital Munich, Ludwig-Maximilians-University, Munich, Germany., Winkelmann J; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Caporali L; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Carelli V; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Stenmark H; Institute for Cancer Research, Oslo University Hospital, Oslo, Norway., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Wagner M; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, LMU Center for Development and Children with Medical Complexity, Ludwig-Maximilians-University Munich, Munich, Germany. Electronic address: matias.wagner@mri.tum.de.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Mar 07; Vol. 111 (3), pp. 594-613. Date of Electronic Publication: 2024 Feb 28.
Autor:
Amore G; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Vacchiano V; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., La Morgia C; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Valentino ML; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Ormanbekova D; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Salvi F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma SLA Atassia Amiloidosi e Miastenia, Bologna, Italy., Bartoletti-Stella A; Department of Experimental, Diagnostic and Specialty Medicine, DIMES University of Bologna, Bologna, Italy., Capellari S; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Liguori R; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Carelli V; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. valerio.carelli@unibo.it.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy. valerio.carelli@unibo.it.; Bellaria Hospital, Via Altura 3, 40139, Bologna, Italy. valerio.carelli@unibo.it.
Publikováno v:
Journal of neurology [J Neurol] 2023 Jan; Vol. 270 (1), pp. 559-564. Date of Electronic Publication: 2022 Sep 06.