학술논문
'학술논문'
에서 검색결과 128건 | 목록
1~10
Academic Journal
Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoen, Peter A. C.'t; Vissers, Lisenka E. L. M.; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; LiÅ¡ková, Petra; Dolezalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Abbott, Kristin M.; Frederikse, Wilhemina SKerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueéas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery, Patrick F.; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; BaÅak, AyÅe Nazli; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, Gijs W. E.; Bijlsma, Emilia K.; Hoffer, Mariette J. V.; Ruivenkamp, Claudia A. L.; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabelle; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick
Human Genomics. May 3, 2023, Vol. 17 Issue 1
Academic Journal
Neo S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neurology, National Neuroscience Institute, Singapore, Singapore.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Cordivari C; Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery, London, United Kingdom.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE
Academic Journal
Menon PJ; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France. poornimajmenon@gmail.com.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France. poornimajmenon@gmail.com.; School of Postgraduate Studies, Royal College of Surgeons in Ireland, Dublin, Ireland. poornimajmenon@gmail.com.; Sambin S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Criniere-Boizet B; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Courtin T; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Genetics, Hôpital Pitié-Salpêtrière, Paris, France.; Tesson C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Casse F; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Ferrien M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Mariani LL; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Carvalho S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Lejeune FX; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Rebbah S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Martet G; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Houot M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Centre of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, Paris, France.; Institute of Memory and Alzheimer's Disease (IM2A), Department of Neurology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.; Lanore A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Mangone G; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Department of Neurology, Movement Disorder Division, Rush University Medical Center, 1725 W. Harrison Street, Chicago, IL, USA.; Roze E; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Vidailhet M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Aasly J; Department of Neurology, Norwegian University of Science and Technology, Trondheim, Norway.; Gan Or Z; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Yu E; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Dauvilliers Y; Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Institute for Neurosciences of Montpellier (INM), INSERM, Montpellier, France.; Zimprich A; Department of Neurology, University Hospital Vienna, Vienna, Austria.; Tomantschger V; Gailtal-Klinik Hermagor, Hermagor, Austria.; Pirker W; Department of Neurology, Ottakring Clinic, Vienna, Austria.; Álvarez I; Department of Neurology, Hospital Universitari Mutua de Terrassa, and Fundació per a la Recerca Biomèdica i Social Mútua de Terrassa, Terrassa, Barcelona, Spain.; Pastor P; Unit of Neurodegenerative diseases, Department of Neurology, University Hospital Germans Trias i Pujol and The Germans Trias i Pujol Research Institute (IGTP) Badalona, Barcelona, Spain.; Di Fonzo A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Real R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; UCL Movement Disorders Centre, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Quattrone A; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.; Limousin P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Korlipara P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Foltynie T; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Grosset D; Institute of Neurological Sciences, University of Glasgow, Glasgow, UK.; Williams N; Department of Psychological Medicine and Neurology, Cardiff University, Cardiff, UK.; Narendra D; Inherited Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Lin HP; Inherited Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Jovanovic C; University Clinical Center of Serbia, Neurology Clinic, Belgrade, Serbia.; Svetel M; University Clinical Center of Serbia, Neurology Clinic, Belgrade, Serbia.; Lynch T; The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin Ireland and University College Dublin, Dublin, Ireland.; Gallagher A; The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin Ireland and University College Dublin, Dublin, Ireland.; Vandenberghe W; Department of Neurology, University Hospitals Leuven; Department of Neurosciences, KU Leuven; Leuven Brain Institute, Leuven, Belgium.; Gasser T; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.; Brockmann K; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.; Morris HR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Borsche M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Corti O; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Brice A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Genetics, Hôpital Pitié-Salpêtrière, Paris, France.; Lesage S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Corvol JC; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE
Academic Journal
Vegezzi E; IRCCS Mondino Foundation, Pavia, Italy.; Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; Bragg DC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Pellerin D; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Currò R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Facchini S; IRCCS Mondino Foundation, Pavia, Italy; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Tucci A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; William Harvey Research Institute, Queen Mary University of London, London, UK.; Hardy J; Department of Neurogedengerative Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Sharma N; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Danzi MC; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Zuchner S; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Tsuji S; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. Electronic address: andrea.cortese@ucl.ac.uk.
Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE
Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Demidov G; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, Tübingen, Germany.; O'Gorman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Corominas-Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Swinkels H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Faivre L; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France.; Denommé-Pichon AS; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Duffourd Y; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Vitobello A; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Chevarin M; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; van der Kooi AJ; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Ossowski S; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, Tübingen, Germany.; Laurie S; Centro Nacional de Análisis Genómico (CNAG), Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Christian.gilissen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Christian.gilissen@radboudumc.nl.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Demidov G; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, Tübingen, Germany.; O'Gorman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Corominas-Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Swinkels H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Faivre L; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France.; Denommé-Pichon AS; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Duffourd Y; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Vitobello A; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Chevarin M; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; van der Kooi AJ; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Ossowski S; Universitätsklinikum Tübingen - Institut für Medizinische Genetik und angewandte Genomik, Tübingen, Germany.; Laurie S; Centro Nacional de Análisis Genómico (CNAG), Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Christian.gilissen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Christian.gilissen@radboudumc.nl.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Report
Neo RJ; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neurology, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.; Mehta AR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Weston M; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Quattrone A; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University of Catanzaro, Catanzaro, Italy.; Gandhi S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Joyce EM; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE
Academic Journal
Erro, R.; Bacchin, Ruggero; Magrinelli, F.; Tomei, P.; Geroin, C.; Squintani, G.; Lupo, A.; Zaza, G.; Tinazzi, M.
Journal of Neurology. 265(7):1676-1683
Academic Journal
Costanzo, M.; Belvisi, D.; Pellicciari, R.; Fabbrini, A.; Ressa, G.; Pietracupa, S.; De Lucia, M.; Modugno, N.; Magrinelli, F.; Dallocchio, C.; Ercoli, T.; Nicoletti, A.; Zappia, M.; Solla, P.; Bologna, M.; Fabbrini, G.; Tinazzi, M.; Conte, A.; Berardelli, A.; Defazio, G.
In Parkinsonism and Related Disorders August 2023 113 Supplement
Academic Journal
Gavazzi F; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Patel V; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Charsar B; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Glanzman A; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Erler J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Sevagamoorthy A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; McKenzie E; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Kornafel T; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ballance E; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Pierce SR; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Teng M; Synaptixbio Ltd, Oxfordshire, United Kingdom.; Formanowski B; Division of Neonatology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Shults J; Synaptixbio Ltd, Oxfordshire, United Kingdom.; Wassmer E; Neurology Department, Birmingham Children's Hospital, Institute of Health and Neurodevelopment, Aston University, Birmingham, United Kingdom.; Tonduti D; Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences, L. Sacco University Hospital, Università degli Studi di Milano, Milan, Italy.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Van Der Knaap M; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands.; Wolf N; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.; Adang L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE
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