Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Pitceathly, RDS"'
Autor:
Lopes, LR, Murphy, D, Bugiardini, E, Salem, R, Jager, J, Futema, M, Majid Akhtar, M, Savvatis, K, Woodward, C, Pittman, AM, Hanna, MG, Syrris, P, Pitceathly, RDS, Elliott, PM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::094901460c0703a1a0c705471aeb6ae8
https://openaccess.sgul.ac.uk/id/eprint/113278/6/CIRCGEN.121.003388.pdf
https://openaccess.sgul.ac.uk/id/eprint/113278/6/CIRCGEN.121.003388.pdf
Autor:
Gomathy, S., Srivastava, PMV., Garg, A., Agarwal, A., Mishra, R., Reyaz, A., Ahmed, T., Bhatia, R., Priyanka, Y., Goel, V., Macken, WL., Pitceathly, RDS., Hanna, M., Vishnu, V.
Publikováno v:
In Neuromuscular Disorders October 2023 33 Supplement 1:S190-S190
Autor:
De Vries MC, Brown DA, Allen ME, Bindoff L, Gorman GS, Karaa A, Keshavan N, Lamperti C, McFarland R, Ng YS, O'Callaghan-Gordo M, Pitceathly RDS, Rahman S, Russel FGM, Varhaug KN, Schirris TJJ, Mancuso M
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary withholding of a drug in a situ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ae7d68b9ab3fe99df474ad6e41b7df4f
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17459
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17459
Autor:
Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R
Publikováno v:
Annals of Neurology
Distinct clinical syndromes have been associated with pathogenicMT‐ATP6variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one individuals p
Akademický článek
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Autor:
Horga, A, Bugiardini, E, Manole, A, Bremner, F, Jaunmuktane, Z, Dankwa, L, Rebelo, AP, Woodward, CE, Hargreaves, IP, Cortese, A, Pittman, AM, Brandner, S, Polke, JM, Pitceathly, RDS, Züchner, S, Hanna, MG, Scherer, SS, Houlden, H, Reilly, MM
Objective To characterize the phenotype in individuals with OPA3-related autosomal dominant optic atrophy and cataract (ADOAC) and peripheral neuropathy (PN).\ud Methods Two probands with multiple affected relatives and one sporadic case were referre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::861944f1e6f16215d1ab61643513fc63
https://researchonline.ljmu.ac.uk/id/eprint/11033/1/alex.pdf
https://researchonline.ljmu.ac.uk/id/eprint/11033/1/alex.pdf
Autor:
Tucci, A, Liu, Y-T, Preza, E, Pitceathly, RDS, Chalasani, A, Plagnol, V, Land, JM, Trabzuni, D, Ryten, M, Jaunmuktane, Z, Reilly, MM, Brandner, S, Hargreaves, IP, Hardy, J, Singleton, AB, Abramov, AY, Houlden, H
Objective Charcot-Marie Tooth disease (CMT) forms a clinically and genetically heterogeneous group of disorders. Although a number of disease genes have been identified for CMT, the gene discovery for some complex form of CMT has lagged behind. The a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::25c902108d87f13b416383c2bc55f0c4
Autor:
Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Tabara LC; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Munro B; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 3EB, UK., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Sonmezler E; Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Lu S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Tilokani L; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Flannery PJ; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Patel N; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Pope SAS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Heales SJR; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Hammadi DBH; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa ON K1H 8L1, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa ON K1Y 4E9, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg 79106, Germany.; Centro Nacional de Análisis Genómico (CNAG), Barcelona Institute of Science and Technology (BIST), Barcelona 08003, Spain., Woodward CE; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK., Labrum R; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London WC1N 3BH, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Chronopoulou E; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol BS1 3NU, UK., Pierre G; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol BS1 3NU, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Taanman JW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Hiz S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey.; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey., Oktay Y; Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey.; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12311, Egypt., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 3EB, UK., Prudent J; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Aug 30. Date of Electronic Publication: 2024 Aug 30.
Autor:
Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001., Spicher C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Scheer E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA., Cech J; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Folland C; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Frey T; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland., Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada., Keren B; Department of Genetics and Referral Center for Intellectual Disabilities of Rare Causes, AP-HP, Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, 75013, Paris, France., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Otten CE; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA., Petit F; CHU Lille, Clinique de génétique Guy Fontaine, F-59000 Lille, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, 8057 Zurich, Switzerland., Ravenscroft G; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Sanchev R; Centre for Clinical Genetics, Sydney Children's Hospitals Network-Randwick, Sydney, NSW 2031, Australia., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland., Tammer F; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Tyndall A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada., Devys D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Vincent SD; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001., Tora L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Aug 01; Vol. 147 (8), pp. 2732-2744.
Autor:
Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Shimada IS; Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Fujimoto M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Sato E; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Takase H; Core Laboratory, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Aoki S; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan., Miyauchi A; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama 2360004, Japan., Arioka Y; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan., Honda M; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.; Laboratory of Molecular and Cellular Physiology, Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima 7398526, Japan., Higashi T; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan., Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 1608582, Japan., Okubo Y; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan., Ogawa I; Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan., Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran., Alijanpour S; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran., Ahmadabadi F; Pediatric Neurology Department, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1546815514, Iran., Herkenrath P; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany., Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.; Max-Planck-Institute for Biology of Ageing, Cologne 50931, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne 50931, Germany., Velmans C; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne 50931, Germany., Al Balwi M; Department of Pathology and Laboratory Medicine, College of Medicine, KSAU-HS, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia., Vitobello A; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France., Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France., Jeanne M; Genetics Department, University Hospital of Tours, Tours 37044, France.; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Civit A; Genetics Department, University Hospital of Tours, Tours 37044, France., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Naderi H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA., Carroll CJ; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK., Ghayoor Karimiani E; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK., Khailany RA; Department of Basic Science, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq., Abdulqadir TA; Department of Pediatrics, College of Medicine, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq., Ozaslan M; Department of Biology, Division of Molecular Biology and Genetics, Gaziantep University, Gaziantep 27410, Turkey., Bauer P; Centogene GmbH, Rostock 18055, Germany., Zifarelli G; Centogene GmbH, Rostock 18055, Germany., Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran., Al Alam C; Pediatrics and Pediatric Neurology, American Center for Psychiatry and Neurology, Abu Dhabi 108699, UAE., Alvi JR; Department of Pediatric Neurology, the Children's Hospital and the University of Child Health Sciences, Lahore 54600, Pakistan., Sultan T; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Pope SAS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan., Matsunaga T; Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan., Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan., Ozaki N; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan., Ohkawa Y; Division of Transcriptomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 8128582, Japan., Oki S; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.; Institute of Resource Development and Analysis, Kumamoto University, Kumamoto 8600811, Japan., Tsunoda T; Laboratory for Medical Science Mathematics, Department of Biological Sciences, School of Science, The University of Tokyo, Tokyo 113-0033, Japan.; Laboratory for Medical Science Mathematics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 113-0033, Japan.; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Taketomi Y; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Murakami M; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan., Kato Y; Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jul 31. Date of Electronic Publication: 2024 Jul 31.