Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Fakhro KA"'
Autor:
Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9ace190b5c0e052e8600958734973424
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
Autor:
Devadoss Gandhi G; Human Genetics Department, Sidra Medicine, Doha, Qatar., Aliyev E; Human Genetics Department, Sidra Medicine, Doha, Qatar., Syed N; Human Genetics Department, Sidra Medicine, Doha, Qatar., Vempalli FR; Bioinformatics, Genomic Data Science Core Sec, Sidra Medicine, Doha, Qatar., Saad C; Qatar Genome Program, Qatar Foundation Research Development and Innovation, Doha, Qatar., Mbarek H; Qatar Genome Program, Qatar Foundation Research Development and Innovation, Doha, Qatar., Al-Saei O; Human Genetics Department, Sidra Medicine, Doha, Qatar., Al-Maraghi A; Human Genetics Department, Sidra Medicine, Doha, Qatar., Abdi M; Human Genetics Department, Sidra Medicine, Doha, Qatar., Krishnamoorthy N; Human Genetics Department, Sidra Medicine, Doha, Qatar., Badii R; Molecular Genetics Laboratory, Hamad Medical Corporation, Doha, Qatar., Akil AA; Genetics and Metabolic Clinical Research Program, Translational Medicine, Research Department, Sidra Medicine, Doha, Qatar., Ben-Omran T; Division of Genetic & Genomics Medicine, Sidra Medicine, Doha, Qatar; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar; Department of Pediatric, Weill Cornell Medical College, Doha, Qatar., Fakhro KA; Human Genetics Department, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar; Department of Genetic Medicine, Weill Cornell Medicine, Qatar (WCM-Q). Electronic address: kfakhro@sidra.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 14; Vol. 26 (12), pp. 101268. Date of Electronic Publication: 2024 Sep 14.
Autor:
Paracha SA; Department of Anatomy, Institute of Medical Sciences (KIMS), Khyber Medical University, Kohat, Pakistan., Nawaz S; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Tahir Sarwar M; Department of Molecular Biology and Genetics, Khyber Medical University, Institute of Basic Sciences, Peshawar, Pakistan., Shaheen A; Department of Biochemistry, Institute of Medical Sciences (KIMS), Khyber Medical University, Kohat, Pakistan., Zaman G; Department of Computer Science, Abbottabad University of Science and Technology, Havelin, Pakistan., Ahmed J; Department of Microbiology, Khyber Medical University, Institute of Basic Sciences, Peshawar, Pakistan., Shah F; Department of Medicine, District Headquarter Hospital, K.D.A, Kohat, Pakistan., Khwaja S; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Jan A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan., Khan N; Department of Obstetrics and Gynecology, Hayatabad Medical Complex, Peshawar, Pakistan., Kamal MA; Department of Pharmaceutics, College of Pharmacy, Prince Sattam Bin Abdulaziz University, Alkharj, Saudi Arabia., Alam Q; Molecular Genomics and Precision Medicine, Express Med Diagnostics and Research, Manama, Bahrain., Abbas S; Department of Biological Science, Dartmouth College, Hanover, NH, United States., Farman S; Faculty of Biosciences, COMSATS University, Islamabad, Pakistan., Waqas A; Department of Zoology, Emerson University, Multan, Pakistan., Alkathiri A; Medical Genetics, Laboratory Medicine Department, Faculty of Applied Medical Sciences, Albaha University, Albaha, Saudi Arabia., Hamadi A; Faculty of Applied Medical Sciences, Department of Medical Laboratory Technology, University of Tabuk, Tabuk, Saudi Arabia., Santoni F; Service of Endocrinology, Diabetes, and Metabolism, University Hospital of Lausanne, Lausanne, Switzerland.; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.; National Research Council (CNR), Rome, Italy., Ullah N; Institute of Biochemistry, University of Balochistan, Quetta, Pakistan., Khalid B; Faculty of Biosciences, COMSATS University, Islamabad, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Geneva, Switzerland., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Umair M; King Abdullah International Medical Research Center (KAIMRC), Department of Medical Genomics Research, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan.
Publikováno v:
Frontiers in medicine [Front Med (Lausanne)] 2024 Aug 30; Vol. 11, pp. 1424753. Date of Electronic Publication: 2024 Aug 30 (Print Publication: 2024).
Autor:
AlMarzooqi SK; Department of Human Genetics-Precision Medicine in Diabetes, Obesity and Cancer Research Program, Sidra Medicine, Doha, Qatar., Almarzooqi F; Department of Human Genetics-Precision Medicine in Diabetes, Obesity and Cancer Research Program, Sidra Medicine, Doha, Qatar., Sadida HQ; Department of Human Genetics-Precision Medicine in Diabetes, Obesity and Cancer Research Program, Sidra Medicine, Doha, Qatar., Jerobin J; Qatar Metabolic Institute, Academic Health System, Hamad Medical Corporation, Doha, Qatar., Ahmed I; Department of Human Genetics-Precision Medicine in Diabetes, Obesity and Cancer Research Program, Sidra Medicine, Doha, Qatar., Abou-Samra AB; Qatar Metabolic Institute, Academic Health System, Hamad Medical Corporation, Doha, Qatar., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medicine, Doha, Qatar., Dhawan P; Department of Biochemistry and Molecular Biology, University of Nebraska Medical Center, Omaha, Nebraska, USA., Bhat AA; Department of Human Genetics-Precision Medicine in Diabetes, Obesity and Cancer Research Program, Sidra Medicine, Doha, Qatar., Al-Shabeeb Akil AS; Department of Human Genetics-Precision Medicine in Diabetes, Obesity and Cancer Research Program, Sidra Medicine, Doha, Qatar.
Publikováno v:
Obesity reviews : an official journal of the International Association for the Study of Obesity [Obes Rev] 2024 Aug; Vol. 25 (8), pp. e13766. Date of Electronic Publication: 2024 May 14.
Autor:
Rossi N; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK., Syed N; Department of Human Genetics, Sidra Medical and Research Center, Doha, Qatar., Visconti A; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK.; Center for Biostatistics, Epidemiology and Public Health, Department of Clinical and Biological Sciences, University of Turin, Turin, Italy., Aliyev E; Department of Human Genetics, Sidra Medical and Research Center, Doha, Qatar., Berry S; Department of Nutritional Sciences, King's College London, London, UK., Bourbon M; Cardiovascular Research Group, Department of Health Promotion and Prevention of non-Communicable Diseases, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisbon, Portugal., Spector TD; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK., Hysi PG; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK., Fakhro KA; Department of Human Genetics, Sidra Medical and Research Center, Doha, Qatar.; Department of Genetic Medicine, Weill-Cornell Medical College, Doha, Qatar., Falchi M; Department of Twin Research & Genetic Epidemiology, King's College London, London, UK. mario.falchi@kcl.ac.uk.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2024 Jun 28; Vol. 9 (1), pp. 36. Date of Electronic Publication: 2024 Jun 28.
Autor:
Fakhro KA; Research Branch, Sidra Medicine, Doha, Qatar.; Weill Cornell Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Awwad J; Reproductive Medicine Unit, Sidra Medicine, Doha, Qatar.; Obstetrics & Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.; Vincent Memorial Obstetrics & Gynecology Service, The Massachusetts General Hospital, Boston, MA, USA., Garibova S; Research Branch, Sidra Medicine, Doha, Qatar., Saraiva LR; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Avella M; Research Branch, Sidra Medicine, Doha, Qatar. mavella@sidra.org.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. mavella@sidra.org.; Department of Biomedical Sciences, Qatar University, Doha, Qatar. mavella@sidra.org.
Publikováno v:
Journal of translational medicine [J Transl Med] 2024 May 19; Vol. 22 (1), pp. 473. Date of Electronic Publication: 2024 May 19.
Autor:
Elgaali E; Pediatric Hematology and Oncology Department, Sidra Medicine, Doha, Qatar., Mezzavilla M; Department of Biology, University of Padua, Padua, Italy., Ahmed I; Research Department, Sidra Medicine, Doha, Qatar., Elanbari M; Research Department, Sidra Medicine, Doha, Qatar., Ali A; Research Department, Sidra Medicine, Doha, Qatar., Abdelaziz G; Division of Pediatrics, Sidra Medicine, Doha, Qatar., Fakhro KA; Research Department, Sidra Medicine, Doha, Qatar., Saleh A; Pediatric Hematology and Oncology Department, Sidra Medicine, Doha, Qatar., Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, Qatar.; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Almulla N; Pediatric Hematology and Oncology Department, Sidra Medicine, Doha, Qatar., Cugno C; Pediatric Hematology and Oncology Department, Sidra Medicine, Doha, Qatar.; Research Department, Sidra Medicine, Doha, Qatar.
Publikováno v:
Frontiers in pediatrics [Front Pediatr] 2024 May 09; Vol. 12, pp. 1326489. Date of Electronic Publication: 2024 May 09 (Print Publication: 2024).
Autor:
Al-Maraghi A; Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Aamer W; Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Ziab M; Department of Human Genetics-Precision Medicine in Diabetes Prevention, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Aliyev E; Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Elbashir N; Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Hussein S; Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Palaniswamy S; Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Anand D; Neonatology Division, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Love DR; Genetic Pathology, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Charles A; Anatomical Pathology, Sidra Medicine, P.O. Box 26999, Doha, Qatar., A S Akil A; Department of Human Genetics-Precision Medicine in Diabetes Prevention, Sidra Medicine, P.O. Box 26999, Doha, Qatar., Fakhro KA; Laboratory of Genomic Medicine, Sidra Medicine, P.O. Box 26999, Doha, Qatar. kfakhro@sidra.org.; Department of Human Genetics-Precision Medicine in Diabetes Prevention, Sidra Medicine, P.O. Box 26999, Doha, Qatar. kfakhro@sidra.org.; College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar. kfakhro@sidra.org.; Department of Genetic Medicine, Weill Cornell Medical College, P.O. Box 24144, Doha, Qatar. kfakhro@sidra.org.
Publikováno v:
BMC nephrology [BMC Nephrol] 2024 Apr 22; Vol. 25 (1), pp. 139. Date of Electronic Publication: 2024 Apr 22.
Autor:
Aamer W; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Al-Maraghi A; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Syed N; Applied Bioinformatics Core, Sidra Medicine, Doha, Qatar., Gandhi GD; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Aliyev E; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Al-Kurbi AA; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Al-Saei O; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Kohailan M; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Krishnamoorthy N; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Palaniswamy S; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Al-Malki K; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Abbasi S; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Agrebi N; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Abbaszadeh F; Diagnostic Genomic Division, Hamad Medical Corporation, Doha, Qatar., Akil ASA; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Badii R; Diagnostic Genomic Division, Hamad Medical Corporation, Doha, Qatar., Ben-Omran T; Section of Clinical and Metabolic Genetics, Department of pediatrics, Hamad Medical Corporation, Doha, Qatar.; Department of Pediatric, Weill Cornell Medical College, Doha, Qatar.; Division of Genetic & Genomics Medicine, Sidra Medicine, Doha, Qatar., Lo B; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Mokrab Y; Department of Human Genetics, Sidra Medicine, Doha, Qatar. ymokrab@sidra.org.; Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar. ymokrab@sidra.org.; College of Health Sciences, Qatar University, Doha, Qatar. ymokrab@sidra.org., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar. kfakhro@sidra.org.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. kfakhro@sidra.org.; Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar. kfakhro@sidra.org.
Publikováno v:
Genome medicine [Genome Med] 2024 Apr 08; Vol. 16 (1), pp. 46. Date of Electronic Publication: 2024 Apr 08.
Autor:
Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. v.chelban@ucl.ac.uk.; Neurobiology and Medical Genetics Laboratory, 'Nicolae Testemitanu' State University of Medicine and Pharmacy, 165, Stefan cel Mare si Sfant Boulevard, MD, 2004, Chisinau, Republic of Moldova. v.chelban@ucl.ac.uk., Aksnes H; Department of Biomedicine, University of Bergen, Bergen, Norway. henriette.aksnes@uib.no., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., LaMonica LC; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA., Seabra L; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France., Siggervåg A; Department of Biomedicine, University of Bergen, Bergen, Norway., Devic P; Hospices Civils de Lyon, Groupement Hospitalier Sud, Service d'Explorations Fonctionnelles Neurologiques, Lyon, France., Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Richard AC; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Quenez O; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Bonnevalle A; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Zanetti MN; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; South Kazakhstan Medical Academy Shymkent, Shymkent, 160019, Kazakhstan., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Instituto de Investigaciones en Medicina Traslacional (IIMT), CONICET-Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina.; Instituto de medicina genómica (IMeG), Hospital Universitario Austral, Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina., Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Tariq A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, Oxford, United Kingdom., Pennavaria A; Department of Biomedicine, University of Bergen, Bergen, Norway., Krogstad LS; Department of Biomedicine, University of Bergen, Bergen, Norway., Bekkelund ÅK; Department of Biomedicine, University of Bergen, Bergen, Norway., Caiella A; Department of Biomedicine, University of Bergen, Bergen, Norway., Glomnes N; Department of Biomedicine, University of Bergen, Bergen, Norway.; Department of Clinical Science, University of Bergen, 5020, Bergen, Norway., Brønstad KM; Department of Biomedicine, University of Bergen, Bergen, Norway., Tury S; Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France., Moreno De Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada., Boland-Auge A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Anheim M; Neurology Department, Strasbourg University Hospital, Strasbourg, France.; Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.; INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France., Cretin B; Neurology Department, Strasbourg University Hospital, Strasbourg, France.; Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.; INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France., Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075, Göttingen, Germany., Alajlan F; Department of Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Battini JL; Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France., İpek R; Paediatric Neurology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey., Bauer P; Centogene GmbH, Am Strande 7, 18055, Rostock, Germany., Zifarelli G; Centogene GmbH, Am Strande 7, 18055, Rostock, Germany., Gungor S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatrics, Division of Pediatric Neurology, Malatya, Turkey., Kurul SH; Dokuz Eylul University, School of Medicine, Department of Paediatric Neurology, Izmir, Turkey., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany., Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Weill Cornell Medical College, Doha, Qatar., Gómez-Pascual A; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain., Botía JA; Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain., Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Ernst AM; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; School of Biological Sciences, Department of Cell and Developmental Biology, University of California San Diego, La Jolla, CA, USA., Rothman JE; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., McEntagart M; Medical Genetics Department, St George's University Hospitals, London, SWI7 0RE, UK., Crow YJ; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Nicolas G; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Arnesen T; Department of Biomedicine, University of Bergen, Bergen, Norway. thomas.arnesen@uib.no.; Department of Surgery, Haukeland University Hospital, Bergen, Norway. thomas.arnesen@uib.no., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2024 Mar 13; Vol. 15 (1), pp. 2269. Date of Electronic Publication: 2024 Mar 13.