학술논문
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'학술논문'
에서 검색결과 20건 | 목록
1~20
Academic Journal
Cavalleri, Gianpiero L ; Weale, Michael E ; Shianna, Kevin V ; Singh, Rinki ; Lynch, John M ; Grinton, Bronwyn ; Szoeke, Cassandra ; Murphy, Kevin ; Kinirons, Peter ; O'Rourke, Deirdre ; Ge, Dongliang ; Depondt, Chantal ; Claeys, Kristl G ; Pandolfo, Massimo ; Gumbs, Curtis ; Walley, Nicole ; McNamara, James ; Mulley, John C ; Linney, Kristen N ; Sheffield, Leslie J ; Radtke, Rodney A ; Tate, Sarah K ; Chissoe, Stephanie L ; Gibson, Rachel A ; Hosford, David ; Stanton, Alice ; Graves, Tracey D ; Hanna, Michael G ; Eriksson, Kai ; Kantanen, Anne-Mari ; Kalviainen, Reetta ; O'Brien, Terence J ; Sander, Josemir W ; Duncan, John S ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Wood, Nicholas W ; Doherty, Colin P ; Delanty, Norman ; Sisodiya, Sanjay M ; Goldstein, David B
In Lancet Neurology 2007 6(11):970-980
Graves TD; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Hinchingbrooke Hospital, Northwest Anglia NHS Foundation Trust, Hinchingbrooke Park, Huntingdon, PE29 6NT, UK.; Griggs RC; Department of Neurology, University of Rochester School of Medicine & Dentistry, Rochester, NY, 14642, USA.; Bundy BN; Pediatrics Epidemiology Center, University of South Florida College of Medicine, Tampa, FL, 33612, USA.; Jen JC; Department of Neurology, UCLA Medical School, Los Angeles, CA, 90095-1769, USA.; Department of Neurology, Icahn School of Medicine at Mount Sinai, 5 East 98th Avenue, New York, NY, 10029, USA.; Baloh RW; Department of Neurology, UCLA Medical School, Los Angeles, CA, 90095-1769, USA.; Hanna MG; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. m.hanna@ucl.ac.uk.
Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Graves TD; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Hinchingbrooke Hospital, Northwest Anglia NHS Foundation Trust, Hinchingbrooke Park, Huntingdon, PE29 6NT, UK.; Griggs RC; Department of Neurology, University of Rochester School of Medicine & Dentistry, Rochester, NY, 14642, USA.; Bundy BN; Pediatrics Epidemiology Center, University of South Florida College of Medicine, Tampa, FL, 33612, USA.; Jen JC; Department of Neurology, UCLA Medical School, Los Angeles, CA, 90095-1769, USA.; Department of Neurology, Icahn School of Medicine at Mount Sinai, 5 East 98th Avenue, New York, NY, 10029, USA.; Baloh RW; Department of Neurology, UCLA Medical School, Los Angeles, CA, 90095-1769, USA.; Hanna MG; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. m.hanna@ucl.ac.uk.
Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE
Academic Journal
Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Demailly D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Lin JP; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Barwick KE; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Sa M; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Abela L; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Malhotra S; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Chong WK; Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.; Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK.; Ngoh A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Trump N; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Vasques X; European IBM Systems Center, Montpellier, France.; Rankin J; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Allain MW; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Isfahani SA; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Baleine J; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Balint B; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.; Baple EL; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Blanchet C; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Burglen L; Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.; Cambonie G; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Seng EC; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Bastaraud SC; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Cyprien F; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Coubes C; Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doja A; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.; Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Farrelly E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA.; Fitzpatrick DR; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.; Fearon C; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; Fieg EL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Fogel BL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Forman EB; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; Fox RG; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Gonzalez V; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Graves TD; Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK.; Gregory A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Hallett M; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Hasegawa H; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Hully M; Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Jeong SY; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Krystal S; Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris.; Kumar KR; Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.; Laurencin C; Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France.; Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Lesca G; Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France.; François LL; Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France.; Lynch T; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mahant N; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Milesi C; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Mills KA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Mondain M; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Morales-Briceno H; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Pal S; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; Pallais JC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Pavillard F; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Perrigault PF; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Petersen AK; Randall Children's Hospital, Portland, OR, USA.; Polo G; Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France.; Poulen G; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Roujeau T; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Roubertie A; Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.; Sahagian M; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Schaefer E; Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Selim L; Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt.; Selway R; Department of Neurosurgery, King's College Hospital, London, UK.; Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Soldatos AG; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Stewart F; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Tchan M; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Department of Genetics, Westmead Hospital, Westmead, NSW, Australia.; Verma IC; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wilson JL; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.; Wong DA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Zaitoun R; Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt.; Zhen D; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Znaczko A; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Dale RC; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; de Gusmão CM; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Friedman J; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Departments of Paediatrics, University of California, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; King MD; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mohammad SS; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA.; Waugh JL; Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.; Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Topf M; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Coubes P; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.
Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE
Academic Journal
Thomas RH; Translational and Clinical Research Institute, Newcastle University, Newcastle, UK.; Hunter A; Genetic Alliance UK, London, UK.; Butterworth L; Lily Foundation, Warlingham, UK.; Feeney C; NHS Highly Specialised Service for Rare Mitochondrial Diseases, Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.; Graves TD; Hinchingbrooke Hospital, Huntingdon, UK.; The National Hospital for Neurology and Neurosurgery, London, UK.; Holmes S; The National Hospital for Neurology and Neurosurgery, London, UK.; Hossain P; HCD Economics Ltd, Warrington, UK.; Lowndes J; Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Sharpe J; Centre for Innovation in Regulatory Science, London, UK.; Upadhyaya S; James Lind Aliance, Southampton, UK.; Varhaug KN; Translational and Clinical Research Institute, Newcastle University, Newcastle, UK.; Votruba M; University Hospital Wales and School of Vision Sciences, Cardiff University, Cardiff, UK.; Wheeler R; Leber's Hereditary Optic Neuropathy Society, Hockley, UK.; Staley K; TwoCan Associates, Herefordshire, UK.; Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
In The Annals of Thoracic Surgery 2002 74(1):261-263
Academic Journal
Graves TD; Department of Neurology, Hinchingbrooke Hospital, Huntingdon, Cambridgeshire, United Kingdom.; Snell HD; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, NY, United States.; Khodakhah K; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, NY, United States.; Griggs RC; Department of Neurology, University of Rochester Medical Center, Rochester, NY, United States.; Jen JC; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address: joanna.jen@mssm.edu.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0166161 Publication Model: Print Cited Medium: Internet ISSN: 0072-9752 (Print) Linking ISSN: 00729752 NLM ISO Abbreviation: Handb Clin Neurol Subsets: MEDLINE
Academic Journal
Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Demailly D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Lin JP; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Barwick KE; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Sa M; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Abela L; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Malhotra S; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Chong WK; Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.; Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK.; Ngoh A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Trump N; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Vasques X; European IBM Systems Center, Montpellier, France.; Rankin J; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Allain MW; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Attaripour Isfahani S; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Baleine J; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Balint B; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.; Baple EL; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Blanchet C; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Burglen L; Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.; Cambonie G; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Seng EC; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Bastaraud SC; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Cyprien F; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Coubes C; Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doja A; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.; Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Farrelly E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA.; Fitzpatrick DR; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.; Fearon C; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; Fieg EL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Fogel BL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Forman EB; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; Fox RG; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Gonzalez V; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Graves TD; Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK.; Gregory A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Hallett M; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Hasegawa H; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Hully M; Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Jeong SY; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Krystal S; Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris.; Kumar KR; Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.; Laurencin C; Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France.; Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Lesca G; Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France.; François LL; Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France.; Lynch T; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mahant N; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Milesi C; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Mills KA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Mondain M; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Morales-Briceno H; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Pal S; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; Pallais JC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Pavillard F; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Perrigault PF; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Petersen AK; Randall Children's Hospital, Portland, OR, USA.; Polo G; Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France.; Poulen G; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Roujeau T; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Roubertie A; Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.; Sahagian M; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Schaefer E; Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Selim L; Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt.; Selway R; Department of Neurosurgery, King's College Hospital, London, UK.; Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Soldatos AG; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Stewart F; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Tchan M; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Department of Genetics, Westmead Hospital, Westmead, NSW, Australia.; Verma IC; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wilson JL; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.; Wong DA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Zaitoun R; Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt.; Zhen D; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Znaczko A; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Dale RC; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; de Gusmão CM; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Friedman J; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Departments of Paediatrics, University of California, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; King MD; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mohammad SS; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA.; Waugh JL; Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.; Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Topf M; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Coubes P; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté de médecine, Université de Montpellier, France.; Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.
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
Academic Journal
Graves, Tracey D; Cha, Yoon-Hee; Hahn, Angelika F; Barohn, Richard; Salajegheh, Mohammed K; Griggs, Robert C; Bundy, Brian N; Jen, Joanna C; Baloh, Robert W; Hanna, Michael G; CINCH Investigators (CORPORATE AUTHOR)
Academic Journal
Journal of the Royal Society of Medicine. Dec 01, 2003 96(12):594-595
Academic Journal
Neurology; 2005 Jul 26, Vol. 65 Issue 2, p308-310, 3p
Academic Journal
Schon K; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK. Katherine.schon@addenbrookes.nhs.uk.; Spasic-Boskovic O; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.; Brugger K; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.; Graves TD; Department of Neurology, Hinchingbrooke Hospital, Hinchingbrooke Park, Huntingdon, PE29 6NT, UK.; Abbs S; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.; Park SM; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.; Ambegaonkar G; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.; Armstrong R; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK.
Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Academic Journal
Graves TD; Neuromuscular Unit, West London Neurosciences Centre, Imperial College Healthcare NHS Trust, Charing Cross Hospital, Fulham Palace Road, London, United Kingdom.; Guiloff RJ
Publisher: American Medical Assn Country of Publication: United States NLM ID: 0372436 Publication Model: Print Cited Medium: Internet ISSN: 1538-3687 (Electronic) Linking ISSN: 00039942 NLM ISO Abbreviation: Arch Neurol Subsets: MEDLINE
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
Academic Journal
Rajakulendran S; MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London, Institute of Neurology, London WC1N 3BG, UK.; Graves TD; Labrum RW; Kotzadimitriou D; Eunson L; Davis MB; Davies R; Wood NW; Kullmann DM; Hanna MG; Schorge S
Publisher: Cambridge Univ. Press Country of Publication: England NLM ID: 0266262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7793 (Electronic) Linking ISSN: 00223751 NLM ISO Abbreviation: J Physiol Subsets: MEDLINE
Academic Journal
Academic Journal
Graves TD; Department of Neurology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, Du Cane Road, London W12 0NS, United Kingdom.; Condon M; Loucaidou M; Perry RJ
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
Academic Journal
Graves TD; Institute of Neurology, University College London, Queen Square, London, United Kingdom.; Imbrici P; Kors EE; Terwindt GM; Eunson LH; Frants RR; Haan J; Ferrari MD; Goadsby PJ; Hanna MG; van den Maagdenberg AM; Kullmann DM
Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE
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