Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Brown AEX"'
For most animals, feeding includes two behaviours: foraging to find a food patch and food intake once a patch is found. The nematodeCaenorhabditis elegansis a useful model for studying the genetics of both behaviours. However, most methods of measuri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e639784aaa3118fa93c4b099dc712d
Autor:
Renée I. Seinstra, Baskaner B, Patrick Laurent, Nollen Eaa, William R Schafer, Brown Aex, Celine N. Martineau
Neurodegenerative diseases may be the cause or the consequence of an acceleration of physiological ageing. Evidence for this concept is lacking due to practical limitations of human studies. Here, we compared the processes of physiological and pathol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2369c71c9172b2c358d42aba5a0118c
https://doi.org/10.1101/555847
https://doi.org/10.1101/555847
Autor:
Brown, AEX, De Bivort, B
Behaviour is the ultimate output of an animal's nervous system and choosing the right action at the right time can be critical for survival. The study of the organisation of behaviour in its natural context, ethology, has historically been a primaril
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::07ae81e3dc33918a6c2186cbf2f35104
http://hdl.handle.net/10044/1/63267
http://hdl.handle.net/10044/1/63267
Publikováno v:
19th IUPAB Congress / 11th EBSA Congress
S74
S74
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::2a9b0c6a8952483d0ed207ffedca897f
http://hdl.handle.net/10044/1/68780
http://hdl.handle.net/10044/1/68780
Autor:
Maroofian R; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Sarraf P; Department of Neuromuscular Diseases, Iranian Centre of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran 1416753955, Iran.; Department of Neurology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran 1416753955, Iran., O'Brien TJ; Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK.; MRC Laboratory of Medical Sciences, London W12 0HS, UK., Kamel M; Department of Pediatrics, Neurology and Metabolic Division, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt., Cakar A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., Lau T; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Patil SJ; Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore 560099, India., Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Horga A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Essid M; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia., Selim L; Department of Pediatrics, Neurology and Metabolic Division, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt., Benrhouma H; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia., Ben Younes T; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia., Zifarelli G; CENTOGENE GmbH, Rostock 18055, Germany., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK., Bauer P; CENTOGENE GmbH, Rostock 18055, Germany., Khundadze M; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany., Mirecki A; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany., Kamel SM; Department of Radiology, Cairo University, Cairo 12613, Egypt., Elmonem MA; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 12613, Egypt., Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad 9187147578, Iran., Jamshidi Y; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK., Offiah AC; Division of Clinical Medicine, School of Medicine & Population Health, University of Sheffield, Sheffield S10 2RX, UK., Rossor AM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Youssef-Turki IB; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia., Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany.; Center for Rare Diseases, Jena University Hospital, Friedrich Schiller Universität, Jena 07747, Germany., Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital NHS Trust, London WC1N 3JH, UK., Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Brown AEX; Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK.; MRC Laboratory of Medical Sciences, London W12 0HS, UK., Nagy S; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel 4031, Switzerland., Houlden H; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jul 05; Vol. 147 (7), pp. 2334-2343.
Autor:
Koopman M; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Güngördü L; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Janssen L; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Seinstra RI; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Richmond JE; Department of Biological Sciences, University of Illinois at Chicago, Chicago, IL 60607, USA., Okerlund N; Howard Hughes Medical Institute and School of Biological Science, The University of Utah, Salt Lake City, UT, USA., Wardenaar R; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Islam P; MRC London Institute of Medical Sciences, London, UK; Institute of Clinical Sciences, Imperial College London, London, UK., Hogewerf W; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Brown AEX; MRC London Institute of Medical Sciences, London, UK; Institute of Clinical Sciences, Imperial College London, London, UK., Jorgensen EM; Howard Hughes Medical Institute and School of Biological Science, The University of Utah, Salt Lake City, UT, USA., Nollen EAA; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: e.a.a.nollen@umcg.nl.
Publikováno v:
Cell reports [Cell Rep] 2024 May 28; Vol. 43 (5), pp. 114204. Date of Electronic Publication: 2024 May 14.
Autor:
Catalano F; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy., O'Brien TJ; Behavioural Phenomics Research Group, MRC London Institute of Medical Sciences, London, UK.; Institute of Clinical Sciences, Imperial College London, London, UK., Mekhova AA; Research Center of Advanced Functional Materials and Laser Communication Systems, ADTS Institute, ITMO University, St. Petersburg, Russia., Sepe LV; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Elia M; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., De Cegli R; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Gallotta I; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute of Genetics and Biophysics Adriano Buzzati-Traverso (IGB-ABT), National Research Council (CNR), Napoli, Italy., Santonicola P; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy., Zampi G; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy., Ilyechova EY; Research Center of Advanced Functional Materials and Laser Communication Systems, ADTS Institute, ITMO University, St. Petersburg, Russia.; Department of Molecular Genetics, Research Institute of Experimental Medicine, St. Petersburg, Russia., Romanov AA; Department of Applied Mathematics, Institute of Applied Mathematics and Mechanics, Peter the Great Polytechnic University, St. Petersburg, Russia., Samuseva PD; Research Center of Advanced Functional Materials and Laser Communication Systems, ADTS Institute, ITMO University, St. Petersburg, Russia., Salzano J; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Petruzzelli R; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Scuola Superiore Meridionale, School of Advanced Studies, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Polishchuk EV; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy., Indrieri A; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute for Genetic and Biomedical Research, National Research Council (CNR), Milan, Italy., Kim BE; Department of Animal and Avian Sciences, University of Maryland, College Park, Maryland, USA., Brown AEX; Behavioural Phenomics Research Group, MRC London Institute of Medical Sciences, London, UK.; Institute of Clinical Sciences, Imperial College London, London, UK., Puchkova LV; Research Center of Advanced Functional Materials and Laser Communication Systems, ADTS Institute, ITMO University, St. Petersburg, Russia., Di Schiavi E; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy.; Institute of Genetics and Biophysics Adriano Buzzati-Traverso (IGB-ABT), National Research Council (CNR), Napoli, Italy., Polishchuk RS; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute for Genetic and Biomedical Research, National Research Council (CNR), Milan, Italy.
Publikováno v:
Traffic (Copenhagen, Denmark) [Traffic] 2024 Jan; Vol. 25 (1), pp. e12920. Date of Electronic Publication: 2023 Oct 27.
Autor:
Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Sengoku T; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., O'Brien TJ; MRC London Institute of Medical Sciences, London, United Kingdom; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London, United Kingdom., Karimiani EG; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Takizawa M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Leong HY; Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Romy R; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Carroll CJ; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Malek H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Tomoum H; Department of Pediatrics, Ain Shams University, Cairo, Egypt., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Yilmaz S; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Kanmaz S; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Serin M; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Krishnakumar D; North West Thames Regional Genetics Service, Northwick Park Hospital, London, United Kingdom., Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, London, United Kingdom., Maw A; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Rao TS; Department of Paediatrics, Luton and Dunstable University Hospital, Luton, United Kingdom., Alsubhi S; Division of Pediatric Neurology, Departments of Pediatrics, McGill University, Montreal, Quebec, Canada., Srour M; Division of Pediatric Neurology, Departments of Pediatrics, McGill University, Montreal, Quebec, Canada; Research Institute of the McGill University Health Center (MUHC), Montreal, Quebec, Canada., Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center (MUHC), Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC., Goldberg RE; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC., Shamseldin H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, Oslo, Norway., Magliocco Ceroni JR; Genetic Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Kim CA; Genetic Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Yesil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sengenc E; Department of Pediatric Neurology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey., Guler S; Department of Child Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey., Hull M; Texas Children's Hospital, Houston, TX., Parnes M; Texas Children's Hospital, Houston, TX., Aktas D; Damagen Genetic Diagnostic Center, Ankara, Turkey., Anlar B; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Bayram Y; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Alavi S; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Madani Manshadi SA; Meybod Genetic Research Center, Meybod, Yazd, Iran., Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan., Elshafie RM; Kuwait Medical Genetic Centre, Ministry of Health, Kuwait., Salayev K; Department of Neurology, Azerbaijan Medical University, Baku, Azerbaijan., Guliyeva U; MediClub Hospital, Baku, Azerbaijan., 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., Gleeson JG; Department of Neurosciences, University of California San Diego, San Diego, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA., Monaghan KG; GeneDx, Gaithersburg, MD., Langley KG; GeneDx, Gaithersburg, MD., Yang H; GeneDx, Gaithersburg, MD., Motavaf M; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Safari S; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alipour M; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Biophysics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran., Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Brown AEX; MRC London Institute of Medical Sciences, London, United Kingdom; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London, United Kingdom., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 90-102. Date of Electronic Publication: 2022 Oct 31.
Autor:
Rosenhahn E; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., O'Brien TJ; MRC London Institute of Medical Sciences, London W12 0NN, UK., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Sorge I; Department of Pediatric Radiology, University Hospital Leipzig, 04103 Leipzig, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany., Rostasy K; Department of Pediatric Neurology, Children's and Adolescents' Hospital Datteln, Witten/Herdecke University, 58448 Witten, Germany., Vitobello A; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, CHU Dijon Bourgogne, FHU translad, Génétique des Anomalies du Développement, INSERM UMR 1231, Université de Bourgogne-Franche Comté, 21070 Dijon, France., Nambot S; Centre de Génétique et Centre de référence des Maladies rare, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alhashem A; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Tabarki B; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Alamri AS; Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam 34212, Saudi Arabia., Al Safar AH; Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam 34212, Saudi Arabia., Bubshait DK; Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam 34212, Saudi Arabia., Alahmady NF; Biology Department, Imam Abdulrahman bin Faisal University, Dammam 34212, Saudi Arabia., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA 92093, USA., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Lesko N; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden., Ygberg S; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Neuropediatric Unit, Department of Women's and Children's Health, Karolinska University Hospital, 171 77 Stockholm, Sweden., Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden., Wredenberg A; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden., Alavi S; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran; Palindrome, Isfahan, Iran., Seyedhassani SM; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran., Ebrahimi Nasab M; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran., Hussien H; Alexandria University Children's Hospital, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt., Omar TEI; Alexandria University Children's Hospital, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt., Harzallah I; Clinical, Chromosomal and Molecular Genetics Department, University Hospital Center, 42270 Saint-Étienne, France., Touraine R; Clinical, Chromosomal and Molecular Genetics Department, University Hospital Center, 42270 Saint-Étienne, France., Tajsharghi H; School of Health Sciences, Translational Medicine, University of Skövde, 541 28 Skövde, Sweden., Morsy H; UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Houlden H; UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Shahrooei M; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium., Ghavideldarestani M; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Torella A; Department of Precision Medicine, University of Campania Luigi Vanvitelli, 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Naples, Italy., Zanobio M; Department of Precision Medicine, University of Campania Luigi Vanvitelli, 80138 Naples, Italy., Terrone G; Child Neurology Unit, Department of Translational Medical Science, University of Naples Federico II, 80131 Naples, Italy., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, 80078 Naples, Italy; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy., Omrani A; Division of Clinical Studies, The Persian Gulf Nuclear Medicine Research Center, Bushehr University of Medical Sciences, Bushehr, Iran., Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Brown AEX; MRC London Institute of Medical Sciences, London W12 0NN, UK; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK. Electronic address: andre.brown@lms.mrc.ac.uk., Maroofian R; UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany. Electronic address: konrad.platzer@medizin.uni-leipzig.de.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Aug 04; Vol. 109 (8), pp. 1421-1435. Date of Electronic Publication: 2022 Jul 12.
Autor:
Barlow IL; Institute of Clinical Sciences, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., Feriani L; Institute of Clinical Sciences, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., Minga E; Institute of Clinical Sciences, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., McDermott-Rouse A; Institute of Clinical Sciences, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., O'Brien TJ; Institute of Clinical Sciences, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., Liu Z; Institute of Clinical Sciences, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden., Hofbauer M; Loopbio GmbH, Vienna, Austria., Stowers JR; Loopbio GmbH, Vienna, Austria., Andersen EC; Department of Molecular Biosciences, Northwestern University, Evanston, IL, USA., Ding SS; Institute of Clinical Sciences, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK.; Max Planck Institute of Animal Behavior, Konstanz, Germany., Brown AEX; Institute of Clinical Sciences, Imperial College London, London, UK. andre.brown@imperial.ac.uk.; MRC London Institute of Medical Sciences, London, UK. andre.brown@imperial.ac.uk.
Publikováno v:
Communications biology [Commun Biol] 2022 Mar 23; Vol. 5 (1), pp. 253. Date of Electronic Publication: 2022 Mar 23.