Zobrazeno 1 - 10
of 2 984
pro vyhledávání: '"LEIGH disease"'
Autor:
Haschke AM; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Cluster of Excellence, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany., Diecke S; Max-Delbrueck-Center for Molecular Medicine (MDC), Berlin, Germany., Schuelke M; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Cluster of Excellence, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Clinical Research Center, Berlin, Germany. Electronic address: markus.schuelke@charite.de.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Dec; Vol. 81, pp. 103547. Date of Electronic Publication: 2024 Sep 06.
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.
Autor:
Li BG; Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China.; Key Laboratory of Pediatric Epilepsy and Neurological Disorders of Hebei Province, Shijiazhuang, China., Wu WJ; Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China.; Key Laboratory of Pediatric Epilepsy and Neurological Disorders of Hebei Province, Shijiazhuang, China., Wang LH; Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China., Wang X; Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China., Liu C; Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China., Du YK; Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China., Li BC; Department of Respiratory, Children's Hospital of Hebei Province, Shijiazhuang, China., Hu JT; Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China., Sun SZ; Department of Neurology, Children's Hospital of Hebei Province, Shijiazhuang, China. Sunzhensun20100701@163.com.; Key Laboratory of Pediatric Epilepsy and Neurological Disorders of Hebei Province, Shijiazhuang, China. Sunzhensun20100701@163.com.
Publikováno v:
Neurogenetics [Neurogenetics] 2024 Nov 28; Vol. 26 (1), pp. 13. Date of Electronic Publication: 2024 Nov 28.
Autor:
Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Xie Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Lou X; Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310014, Zhejiang, China., Zeng X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Zhang L; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Yu M; Department of Neurology, Peking University First Hospital, Beijing, 100034, China., Wang J; Department of Pediatrics, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China., Li J; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Shen D; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Li H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Zhao S; Fujungenetics Technologies Co, Ltd, Beijing, 100176, China., Zhou Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Fang H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Lyu J; Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310014, Zhejiang, China., Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, 100034, China., Wang Z; Department of Neurology, Peking University First Hospital, Beijing, 100034, China. drwangzx@163.com., Jin L; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China. liqinjin@126.com.; Department of Scientific Research, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China. liqinjin@126.com., Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. 13910150389@163.com.
Publikováno v:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2024 Oct 26; Vol. 299 (1), pp. 102. Date of Electronic Publication: 2024 Oct 26.
Autor:
Nakai R; Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Suita, Japan.; Department of Hematology, Osaka International Cancer Institute, Osaka, Japan.; Department of Hematology, Sakai City Medical Center, Sakai, Japan., Varnum S; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Field RL; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Shi H; Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Suita, Japan.; Department of Hematology, Osaka International Cancer Institute, Osaka, Japan., Giwa R; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Jia W; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Krysa SJ; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Cohen EF; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Borcherding N; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., Saneto RP; Neuroscience Institute, Center for Integrated Brain Research, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Tsai RC; LUCA Science, Tokyo, Japan., Suganuma M; LUCA Science, Tokyo, Japan., Ohta H; LUCA Science, Tokyo, Japan., Yokota T; Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Suita, Japan. yokotat@oici.jp.; Department of Hematology, Osaka International Cancer Institute, Osaka, Japan. yokotat@oici.jp., Brestoff JR; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA. brestoff@wustl.edu.
Publikováno v:
Nature metabolism [Nat Metab] 2024 Oct; Vol. 6 (10), pp. 1886-1896. Date of Electronic Publication: 2024 Sep 02.
Autor:
Henke MT; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Prigione A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany., Schuelke M; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1292-1321. Date of Electronic Publication: 2024 Oct 09.
Autor:
van de Wal MAE; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Doornbos C; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands., Bibbe JM; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands., Homberg JR; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Karnebeek C; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Huynen MA; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands., Keijer J; Human and Animal Physiology, Wageningen University, Wageningen, the Netherlands., van Schothorst EM; Human and Animal Physiology, Wageningen University, Wageningen, the Netherlands., 't Hoen PAC; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands., Janssen MCH; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Adjobo-Hermans MJW; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands., Wieckowski MR; Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Warsaw, Poland., Koopman WJH; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Human and Animal Physiology, Wageningen University, Wageningen, the Netherlands. Electronic address: Werner.Koopman@radboudumc.nl.
Publikováno v:
Biochimica et biophysica acta. Proteins and proteomics [Biochim Biophys Acta Proteins Proteom] 2025 Jan 01; Vol. 1873 (1), pp. 141055. Date of Electronic Publication: 2024 Oct 11.
Autor:
Dupré M; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Warne R; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Shipman P; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia., Kava M; Department of Neurology, Perth Children's Hospital, Perth, 6009, Australia.; Department of Metabolic Medicine, Perth Children's Hospital, Perth, 6009, Australia.; School of Paediatrics and Child Health, UWA Medical School, University of Western Australia, Perth, 6009, Australia., Ghia T; Department of Neurology, Perth Children's Hospital, Perth, 6009, Australia., Loughman L; Genetic Health Western Australia, King Edward Memorial Hospital, Perth, 6008, Australia., Lakshmanan R; Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia. Rahul.Lakshmanan@health.wa.gov.au.; UWA Medical School, Centre for Neuromuscular and Neurological Disorders (Perron Institute), Nedlands, 6009, Australia. Rahul.Lakshmanan@health.wa.gov.au.
Publikováno v:
Pediatric radiology [Pediatr Radiol] 2024 Sep; Vol. 54 (10), pp. 1758-1762. Date of Electronic Publication: 2024 Jul 27.
Autor:
Dong Q; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Yin X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Fan S; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Zhong S; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Yang W; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Chen K; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Wang Q; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Ma X; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China., Mahlatsi RL; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China., Lyu J; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China.; Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, 310053, China., Fang H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China. fangh@wmu.edu.cn., Wang Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China. yawang@wmu.edu.cn.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 21; Vol. 19 (1), pp. 305. Date of Electronic Publication: 2024 Aug 21.
Autor:
Lo CH; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Liu Z; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Chen S; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Lin F; Department of Medicine, Stanford University, Palo Alto, California, USA., Berneshawi AR; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Yu CQ; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Koo EB; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Kowal TJ; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Ning K; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Hu Y; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Wang WJ; Institute of Biochemistry and Molecular Biology, College of Life Science, National Yang Ming Chiao Tung University, Taipei, Taiwan., Liao YJ; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA., Sun Y; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, USA.; Palo Alto Veterans Administration, Palo Alto, California, USA.; Stanford Maternal and Child Health Research Institute and.; BioX, Stanford University School of Medicine, Palo Alto, California, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Jul 01; Vol. 134 (13). Date of Electronic Publication: 2024 Jul 01.
Autor:
Newstead SM; HeatSync Biochemistry Laboratory, Mesa, AZ, USA., Finsterer J; Neurology and Neurophysiology Center, Vienna, Austria.
Publikováno v:
Annals of African medicine [Ann Afr Med] 2024 Jul 01; Vol. 23 (3), pp. 512-513. Date of Electronic Publication: 2024 Jul 20.