المؤلفون: Wilpert NM, Tonduti D, Vaia Y, Krude H, Sarret C, Schuelke M

المصدر: Neuropsychiatric Disease and Treatment, Vol Volume 19, Pp 2195-2216 (2023)

مصطلحات موضوعية: mct8 deficiency, slc16a2, ultra-rare disease, movement disorders, triac, stakeholder engagement, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.dovepress.com/establishing-patient-centered-outcomes-for-mct8-deficiency-stakeholder-peer-reviewed-fulltext-article-NDT; https://doaj.org/toc/1178-2021

URL الوصول: https://doaj.org/article/6649c0f03e284adbb621aac95998025c

المؤلفون: Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany., Marchi E; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA., Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Pantel JT; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Hagen MT; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Binti Mazlan RA; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Tae SK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Kamphans T; GeneTalk GmbH, Bonn, NRW, Germany., Meiswinkel W; GeneTalk GmbH, Bonn, NRW, Germany., Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Uwineza A; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Velmans C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Jacob M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Peron A; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Italy., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK., Nunes BC; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Vilella T; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Pinheiro IF; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Kim CA; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Weiland H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Kaptain S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Chwiałkowska K; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; IMAGENE.ME SA, Bialystok, Poland., Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland.; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland., Saad R; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK., Wiethoff S; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany., Goel H; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia., Tang C; Kabuki Syndrome Foundation, Northbrook, IL, USA., Hau A; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Panek P; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany., Gomy I; Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil., Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany., Ekure E; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana., Graziano C; Medical Genetics Unit, Ausl Romagna, Cesena, Italy., Gaboon N; Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Fiesco-Roa M; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico., Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Wilpert NM; NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German., Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Güzel N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bitar R; Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Khalifa University, Abu Dhabi, United Arab Emirates., Tzschach A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Contreras-Capetillo SN; Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico., Oberlack A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Samango-Sprouse C; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199.; Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035., Sadeghin T; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Olaya M; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Borovikov A; Research Centre for Medical Genetics (RCMG), Moscow, Russia., Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Heuft L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Herrmann V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Kumar S; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Komlosi K; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed K; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Martinez-Monseny AF; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain., Höller M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Toutouna L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lasa-Aranzasti A; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain., Sayer JA; Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.; Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Danyel M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Sczakiel H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Zhao M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Adam R; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Einicke L; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Chew KS; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Kam CC; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Karakoyun M; Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey., Pode-Shakked B; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; The faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel., Rock R; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center.; National Newborn Screening Program, Public Health Services, Ministry of Health Tel-Hashomer, Israel., Carrion T; Rare diseases Unit, Pediatric Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain., Chorin O; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA., Conti MM; Project Director AI for Health at Foundation 29, Foundation 29, Madrid, Spain., Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Tung ML; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Chandra B; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo., Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Baden-Württemberg, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China., Niehues T; Department of Pediatrics, Helios Klinik Krefeld, Krefeld 47805, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Roth RR; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Hu P; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Waikel RL; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Ledgister Hanchard SE; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Elmakkawy G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Krüger E; Insitute for Medical Biochemistry and Molecular Biology, University of Greifswald, Greifswald, Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Arlt A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dupuis L; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Mendoza-Londono R; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Weis D; Institue for Medical Genetics, Kepler University Hospital, Linz, Austria., Chung BH; Hong Kong Genome Institute, Hong Kong, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Türkiye., Elcioglu N; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye., Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Türkiye., Şimşek-Kiper PÖ; Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Türkiye., Bögershausen N; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Wollnik B; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany., Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Netzer C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Devriendt K; Center for Human Genetics, KU Leuven, Leuven, Belgium., Gripp KW; Division of Medical Genetics, A.I. du Pont Hospital for Children/Nemours, USA, Wilmington, Delaware, USA., Mücke M; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Nellåker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, UK., Solomon BD; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; Biology PhD Program, The Graduate Center, The City University of New York, New York, United States of America., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.

المصدر: Research square [Res Sq] 2024 Jun 10. Date of Electronic Publication: 2024 Jun 10.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

المؤلفون: Wilpert NM; From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy; and Department of Pediatric Radiology (B.L.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Germany., Schuelke M; From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy; and Department of Pediatric Radiology (B.L.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Germany., Lala B; From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy; and Department of Pediatric Radiology (B.L.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Germany., Weiß C; From the Department of Neuropediatrics (N.-M.W., M.S., C.W.); Center for Chronically Sick Children (N.-M.W., M.S., C.W.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin; BIH Charité Junior Clinician Scientist Program (N.-M.W.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy; and Department of Pediatric Radiology (B.L.), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Germany.

المصدر: Neurology [Neurology] 2024 Jun; Vol. 102 (11), pp. e209476. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Collagen Type VI*/genetics, Humans ; Muscular Dystrophies/genetics ; Muscular Dystrophies/congenital ; Contracture/genetics ; Male ; Sequence Deletion/genetics ; Female ; Adult

SCR Disease Name: Bethlem myopathy

المؤلفون: Wilpert NM; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., de Almeida Marcelino AL; Department of Neurology with Experimental Neurology, Movement Disorders and Neuromodulation Unit, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Knierim E; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Incoronato P; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Sanchez-Sendin E; German Center for Neurodegenerative Diseases (DZNE), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; Department of Neurology and Experimental Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Staudacher O; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; NeuroCure Clinical Research Center, Berlin, Germany., Drenckhahn A; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Bittigau P; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Kreye J; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; German Center for Neurodegenerative Diseases (DZNE), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; Department of Neurology and Experimental Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Prüss H; German Center for Neurodegenerative Diseases (DZNE), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; Department of Neurology and Experimental Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Schuelke M; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; Department of Immunology, Labor Berlin GmbH, Berlin, Germany., Kühn AA; Department of Neurology with Experimental Neurology, Movement Disorders and Neuromodulation Unit, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Kaindl AM; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany., Nikolaus M; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany. marc.nikolaus@charite.de.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany. marc.nikolaus@charite.de.

المصدر: Journal of neurology [J Neurol] 2023 Oct; Vol. 270 (10), pp. 4593-4607. Date of Electronic Publication: 2023 Jul 29.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Ataxia*/etiology , Cerebellar Ataxia*/diagnosis , COVID-19*/complications , Movement Disorders*/etiology , Chorea*/etiology, Female ; Child ; Humans ; Animals ; Mice ; SARS-CoV-2 ; Pandemics ; Ataxia/etiology ; Antibodies

المؤلفون: Heise V; Freelance Open Science researcher, Gladbeck, Germany., Holman C; QUEST Center for Responsible Research, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Lo H; Einstein Center for Neurosciences Berlin, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Neuroscience Research Center (NWFZ), Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Lyras EM; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Adkins MC; Department of Psychology, York University, Toronto, Canada., Aquino MRJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, United Kingdom., Bougioukas KI; Department of Hygiene, Social-Preventive Medicine & Medical Statistics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, University Campus, Thessaloniki, Greece., Bray KO; Melbourne Neuropsychiatry Centre (MNC), Department of Psychiatry, The University of Melbourne & Melbourne Health, Melbourne, Australia, and Melbourne School of Psychological Sciences, University of Melbourne, Melbourne, Australia., Gajos M; Department of Mathematics and Computer Science, Freie Universität Berlin, Berlin, Germany., Guo X; Einstein Center for Neurosciences Berlin, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Hartling C; Department of Psychiatry and Psychotherapy, Charité-Universitätsmedizin Berlin, Berlin, Germany., Huerta-Gutierrez R; Institute of Public Health, Charité-Universitätsmedizin Berlin, Berlin, Germany., Jindrová M; Department of Psychosomatic Medicine and Psychotherapy, Central Institute of Mental Health Mannheim, Medical Faculty Mannheim / Heidelberg University, Mannheim, Germany., Kenney JPM; School of Psychology, Dublin City University, Dublin, Ireland., Kępińska AP; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America., Kneller L; Division of Pulmonary Inflammation, Charité-Universitätsmedizin Berlin, Berlin, Germany., Lopez-Rodriguez E; Institute of Functional Anatomy, Charité Universitätsmedizin Berlin, Berlin, Germany., Mühlensiepen F; Center for Health Services Research, Brandenburg Medical School Theodor Fontane, Faculty of Health Sciences Brandenburg, Ruedersdorf, Germany., Richards A; Imperial College, London, United Kingdom., Richards G; School of Psychology, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom., Siebert M; Meta-Research Innovation Center at Stanford (METRICS), Stanford University, Stanford, California, United States of America., Smith JA; Botnar Research Centre and Centre for Statistics in Medicine, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, United Kingdom., Smith N; Department of Psychology, School of Education, Language and Psychology, York St John University, New York, United Kingdom., Stransky N; Department of Pharmacology, Toxicology and Clinical Pharmacy, Institute of Pharmacy, University of Tübingen, Tübingen, Germany., Tarvainen S; Department of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Valdes DS; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Experimental and Clinical Research Center Charité-Universitätsmedizin Berlin, Berlin, Germany., Warrington KL; School of Psychology, Nottingham Trent University, Nottingham, United Kingdom., Wilpert NM; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Witkowska D; Division of Psychology and Language Sciences, University College London, London, United Kingdom., Zaneva M; Department of Experimental Psychology, University of Oxford, Oxford, United Kingdom., Zanker J; Einstein Center for Neurosciences Berlin, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Weissgerber TL; QUEST Center for Responsible Research, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.

المصدر: PLoS computational biology [PLoS Comput Biol] 2023 Jan 05; Vol. 19 (1), pp. e1010750. Date of Electronic Publication: 2023 Jan 05 (Print Publication: 2023).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7358 (Electronic) Linking ISSN: 1553734X NLM ISO Abbreviation: PLoS Comput Biol Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Masnada S; Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy; C.O.A.L.A (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy. Electronic address: silvia.masnada@asst-fbf-sacco.it., Sarret C; Centre de Compétence des Leucodystrophies et Leucoencéphalopathies de Cause Rare, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France. Electronic address: csarret@chu-clermontferrand.fr., Antonello CE; C.O.A.L.A (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Department of Paediatric Orthopaedics, V. Buzzi Children's Hospital, Milan, Italy. Electronic address: clara.antonello@asst-fbf-sacco.it., Fadilah A; Department of Paediatric Neurology, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom. Electronic address: ala.fadilah@nhs.net., Krude H; Institute of Experimental Pediatric Endocrinology, Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. Electronic address: heiko.krude@charite.de., Mura E; Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy; C.O.A.L.A (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy., Mordekar S; Department of Paediatric Neurology, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom. Electronic address: santosh.mordekar@nhs.net., Nicita F; Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: francesco.nicita@opbg.net., Olivotto S; Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy; C.O.A.L.A (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy. Electronic address: sara.olivotto@asst-fbf-sacco.it., Orcesi S; Department of Brain and Behavioural Neurosciences, University of Pavia, Pavia, Italy; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy. Electronic address: simona.orcesi@mondino.it., Porta F; Pediatric Department, Regina Margherita Hospital, Turin, Italy., Remerand G; Service de Néonatologie, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Siri B; Pediatric Department, Regina Margherita Hospital, Turin, Italy; Metabolic Unit, Department Pediatrics, Bambino Gesù Children's Hospital, Italy. Electronic address: barbara.siri@unito.it., Wilpert NM; Department of Neuropediatrics, Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. Electronic address: nina-maria.wilpert@charite.de., Amir-Yazdani P; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montréal, Québec, Canada; Université Laval, Québec, Québec, Canada. Electronic address: pouneh.amir-yazdani.1@ulaval.ca., Bertini E; Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: enricosilvio.bertini@opbg.net., Schuelke M; Department of Neuropediatrics, Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. Electronic address: markus.schuelke@charite.de., Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montréal, Québec, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Canada. Electronic address: genevieve.bernard@mcgill.ca., Boespflug-Tanguy O; Department of Pediatric Neurology and Metabolic Disorders, French Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France; Inserm UMR1141 Neuroprotect, Paris Diderot University, Sorbonne Cite, Paris, France., Tonduti D; Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy; C.O.A.L.A (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy. Electronic address: davide.tonduti@asst-fbf-sacco.it.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2022 Jan; Vol. 135 (1), pp. 109-113. Date of Electronic Publication: 2021 Dec 16.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mental Retardation, X-Linked*/genetics , Movement Disorders*/genetics , Symporters*/genetics, Humans ; Monocarboxylic Acid Transporters/genetics ; Muscle Hypotonia/complications ; Muscle Hypotonia/genetics ; Muscle Hypotonia/metabolism ; Muscular Atrophy/complications ; Muscular Atrophy/genetics ; Muscular Atrophy/metabolism

SCR Disease Name: Allan-Herndon-Dudley syndrome

المؤلفون: Wilpert NM; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Neuropediatrics, 13353, Berlin, Germany., Marguet F; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Department of Pathology, 76000, Rouen, France., Maillard C; Institut Imagine-Inserm UMR-1163, Genetics and Development of the Cerebral Cortex, 75015, Paris, France., Guimiot F; Robert Debré Hospital, APHP, Paris Diderot University, Inserm U1141, Department of Genetics and Cytogenetics, Foetopathology Unit, 75019, Paris, France., Martinovic J; Antoine Béclère Hospital, Paris-Sud University, Department of Fetal Pathology, 92140, Clamart, France; Inserm UMR-788, Neuroprotection and Neuroregeneration, 94270, Le Kremlin Bicetre, France., Drunat S; Robert Debré Hospital, APHP, Paris Diderot University, Inserm U1141, Department of Genetics and Cytogenetics, Foetopathology Unit, 75019, Paris, France., Attié-Bitach T; Institut Imagine-Inserm UMR-1163, Genetics and Development of the Cerebral Cortex, 75015, Paris, France; Hôpital Necker-Enfants Malades, Unité d'Embryofoetopathologie, service d'Histologie-Embryologie-Cytogénétique, University of Paris, 75015, Paris, France; Paris Descartes - Sorbonne Paris Cite University, 75006, Paris, France., Razavi F; Hôpital Necker-Enfants Malades, Unité d'Embryofoetopathologie, service d'Histologie-Embryologie-Cytogénétique, University of Paris, 75015, Paris, France., Tessier A; Hôpital Necker-Enfants Malades, Unité d'Embryofoetopathologie, service d'Histologie-Embryologie-Cytogénétique, University of Paris, 75015, Paris, France; Paris Descartes - Sorbonne Paris Cite University, 75006, Paris, France., Capri Y; Robert Debré Hospital, APHP, Paris Diderot University, Inserm U1141, Department of Genetics and Cytogenetics, Foetopathology Unit, 75019, Paris, France., Laquerrière A; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Department of Pathology, 76000, Rouen, France., Bahi-Buisson N; Institut Imagine-Inserm UMR-1163, Genetics and Development of the Cerebral Cortex, 75015, Paris, France; Paris Descartes - Sorbonne Paris Cite University, 75006, Paris, France; Hôpital Necker-Enfants Malades, Pediatric Neurology, 75015, Paris, France. Electronic address: nadia.bahi-buisson@aphp.fr.

المصدر: European journal of medical genetics [Eur J Med Genet] 2021 Sep; Vol. 64 (9), pp. 104282. Date of Electronic Publication: 2021 Jul 17.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurogenesis*, Agenesis of Corpus Callosum/*genetics , Axons/*pathology , Forkhead Transcription Factors/*genetics , Microcephaly/*genetics , Nerve Tissue Proteins/*genetics , Neurodevelopmental Disorders/*genetics , Oligodendroglia/*pathology, Aborted Fetus/metabolism ; Aborted Fetus/pathology ; Adult ; Agenesis of Corpus Callosum/pathology ; Axons/metabolism ; Brain/embryology ; Brain/metabolism ; Brain/pathology ; Codon, Nonsense ; Female ; Forkhead Transcription Factors/metabolism ; GABAergic Neurons/metabolism ; GABAergic Neurons/pathology ; Humans ; Interneurons/metabolism ; Interneurons/pathology ; Microcephaly/pathology ; Myelin Sheath/metabolism ; Nerve Tissue Proteins/metabolism ; Neurodevelopmental Disorders/pathology ; Oligodendroglia/metabolism ; Pedigree ; Pregnancy ; Syndrome

المؤلفون: Wilpert NM; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Experimental Pediatric Endocrinology, Berlin, Germany., Krueger M; Institute of Anatomy, University of Leipzig, Leipzig, Germany., Opitz R; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Experimental Pediatric Endocrinology, Berlin, Germany., Sebinger D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Experimental Pediatric Endocrinology, Berlin, Germany., Paisdzior S; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Experimental Pediatric Endocrinology, Berlin, Germany., Mages B; Institute of Anatomy, University of Leipzig, Leipzig, Germany., Schulz A; Rudolf Schönheimer Institute of Biochemistry, Molecular Biochemistry, University of Leipzig, Leipzig, Germany., Spranger J; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Endocrinology, Diabetes and Nutrition, Berlin, Germany., Wirth EK; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Endocrinology, Diabetes and Nutrition, Berlin, Germany., Stachelscheid H; Stem Cell Core Facility, Berlin Institute of Health, Berlin, Germany.; Charité - Universitätsmedizin Berlin, Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany., Mergenthaler P; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Experimental Neurology, Department of Neurology, Center for Stroke Research Berlin, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Vajkoczy P; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Neurosurgery, Berlin, Germany., Krude H; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Experimental Pediatric Endocrinology, Berlin, Germany., Kühnen P; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Experimental Pediatric Endocrinology, Berlin, Germany., Bechmann I; Institute of Anatomy, University of Leipzig, Leipzig, Germany., Biebermann H; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Experimental Pediatric Endocrinology, Berlin, Germany.

المصدر: Thyroid : official journal of the American Thyroid Association [Thyroid] 2020 Sep; Vol. 30 (9), pp. 1366-1383. Date of Electronic Publication: 2020 Apr 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mary Ann Liebert Publishers Country of Publication: United States NLM ID: 9104317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-9077 (Electronic) Linking ISSN: 10507256 NLM ISO Abbreviation: Thyroid Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation* , Mutation*, Monocarboxylic Acid Transporters/*biosynthesis , Symporters/*biosynthesis, Aged ; Aged, 80 and over ; Animals ; Brain/metabolism ; Cell Line ; Dogs ; Endothelial Cells/metabolism ; Gene Expression Profiling ; Humans ; Mental Retardation, X-Linked/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Muscle Hypotonia/metabolism ; Muscular Atrophy/metabolism ; Neurogenesis ; Neurons/metabolism ; Prosencephalon/metabolism ; Triiodothyronine/metabolism

SCR Disease Name: Allan-Herndon-Dudley syndrome