Zobrazeno 1 - 10
of 2 888
pro vyhledávání: '"MITOCHONDRIAL encephalomyopathies"'
Autor:
Zhang S; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Qin H; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Wang Q; Department of Medical Genetics, Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China., Wang Y; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Liu Y; Shenzhen Luohu People's Hospital, the Third Affiliated Hospital of Shenzhen University, Shenzhen, 518000, P.R. China., Yang Q; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Luo J; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Qin Z; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Ji X; Department of Medical Laboratory, Shenzhen Luohu People's Hospital, the Third Affiliated Hospital of Shenzhen University, Shenzhen, 518000, P.R. China., Kan L; Department of Medical Laboratory, Shenzhen Luohu People's Hospital, the Third Affiliated Hospital of Shenzhen University, Shenzhen, 518000, P.R. China., Geng G; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Huang J; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Wei S; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Chen Q; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China., Shen Y; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 02115, Boston, MA, USA., Yuan H; Department of Medical Genetics, Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China. haimingyuan@sina.cn., Lai B; Shenzhen Luohu People's Hospital, the Third Affiliated Hospital of Shenzhen University, Shenzhen, 518000, P.R. China. angell_hood95@sina.com.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 11; Vol. 19 (1), pp. 376. Date of Electronic Publication: 2024 Oct 11.
Autor:
Jia Y; Department of Neurology, Xuanwu Hospital, Capital Medical University, No.45 ChangChun Street XiCheng District, Beijing, 100053, China., Jiao L; Department of Neurology, Xuanwu Hospital, Capital Medical University, No.45 ChangChun Street XiCheng District, Beijing, 100053, China. jiaolidong2005@163.com., Wang Y; Department of Neurology, Xuanwu Hospital, Capital Medical University, No.45 ChangChun Street XiCheng District, Beijing, 100053, China. mdwangyp@sina.cn.; Beijing Key Laboratory of Neuromodulation, Capital Medical University, Beijing, China. mdwangyp@sina.cn.; Center of Epilepsy, Ministry of Science and Technology, Beijing Institute for Brain Disorders, Capital Medical University, Beijing, China. mdwangyp@sina.cn.; Institute of Sleep and Consciousness Disorders, Collaborative Innovation Center for Brain Disorders, Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China. mdwangyp@sina.cn.
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Oct; Vol. 45 (10), pp. 5109-5110. Date of Electronic Publication: 2024 Jul 16.
Autor:
Walker BR; Neuroscience Graduate Program, University of Miami Miller School of Medicine, Miami, USA., Theard LM; Department of Neurology, University of Miami Miller School of Medicine, Miami, USA., Pinto M; Department of Neurology, University of Miami Miller School of Medicine, Miami, USA.; Mitobridge Inc, Cambridge, MA, USA., Rodriguez-Silva M; Department of Neurology, University of Miami Miller School of Medicine, Miami, USA., Bacman SR; Department of Neurology, University of Miami Miller School of Medicine, Miami, USA., Moraes CT; Department of Neurology, University of Miami Miller School of Medicine, Miami, USA. cmoraes@med.miami.edu.; Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, USA. cmoraes@med.miami.edu.; Department of Cell Biology, University of Miami Miller School of Medicine, Miami, USA. cmoraes@med.miami.edu.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2024 Sep; Vol. 16 (9), pp. 2210-2232. Date of Electronic Publication: 2024 Aug 21.
Autor:
Gao X; Department of Pediatrics, Inner Mongolia Maternal and Child Health Hospital, Hohhot, People's Republic of China., Xin G; Department of Pediatrics, Inner Mongolia Maternal and Child Health Hospital, Hohhot, People's Republic of China., Tu Y; Department of Pediatrics, Inner Mongolia Maternal and Child Health Hospital, Hohhot, People's Republic of China., Liang X; Department of Pediatrics, Inner Mongolia Maternal and Child Health Hospital, Hohhot, People's Republic of China., Yang H; Department of Pediatrics, Inner Mongolia Maternal and Child Health Hospital, Hohhot, People's Republic of China., Meng H; Department of Pediatrics, Inner Mongolia Maternal and Child Health Hospital, Hohhot, People's Republic of China., Wang Y; Department of Pediatrics, Inner Mongolia Maternal and Child Health Hospital, Hohhot, People's Republic of China.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2024 Jun; Vol. 55 (3), pp. 178-182. Date of Electronic Publication: 2022 Sep 23.
Autor:
Du J; Department of Rheumatology and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, Shandong, China.; Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China.; Department of Rheumatology and Immunology, Cheeloo College of Medicine, Shandong Provincial Hospital, Shandong University, Jinan, 250021, Shandong, China., Liu F; Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China., Liu X; Key Laboratory of Experimental Teratology, Ministry of Education, School of Basic Medical Science, Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China., Zhao D; Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China., Wang D; Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China., Sun H; Department of Rheumatology and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, Shandong, China.; Department of Rheumatology and Immunology, Cheeloo College of Medicine, Shandong Provincial Hospital, Shandong University, Jinan, 250021, Shandong, China., Yan C; Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn.; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, 266000, Shandong, China. czyan@sdu.edu.cn.; Brain Science Research Institute, Shandong University, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn., Zhao Y; Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China. zyy72@126.com.
Publikováno v:
Journal of translational medicine [J Transl Med] 2024 May 13; Vol. 22 (1), pp. 449. Date of Electronic Publication: 2024 May 13.
Autor:
Ozlu C; University of Texas Southwestern Medical Center ,Dallas, TX, USA; Children's Medical Center, Dallas, TX, USA., Messahel S; Elpida Therapeutics, Encino, CA, USA., Minassian B; University of Texas Southwestern Medical Center ,Dallas, TX, USA; Children's Medical Center, Dallas, TX, USA., Kayani S; University of Texas Southwestern Medical Center ,Dallas, TX, USA; Children's Medical Center, Dallas, TX, USA. Electronic address: saima.kayani@utsouthwestern.edu.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 May; Vol. 50, pp. 31-40. Date of Electronic Publication: 2024 Mar 28.
Autor:
Duan H; Department of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China., Pan C; Department of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China., Wu T; Department of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China., Peng J; Department of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China.. Electronic address: pengjing@csu.edu.cn., Yang L; Department of Pediatrics, Clinical Research Center of Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China.. Electronic address: yangli525@csu.edu.cn.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Apr; Vol. 1870 (4), pp. 167043. Date of Electronic Publication: 2024 Feb 05.
Autor:
Kubal CA; Transplant Division, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA., Mihaylov P; Transplant Division, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA., Snook R; Department of Clinical Neurology, Indiana University School of Medicine, Indianapolis, IN, USA., Soma D; Transplant Division, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA., Saeed O; Division of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA., Rokop Z; Transplant Division, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA., Lacerda M; Department of Gastroenterology and Hepatology, Indiana University School of Medicine, Indianapolis, IN, USA., Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Mangus RS; Transplant Division, Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA.
Publikováno v:
Annals of transplantation [Ann Transplant] 2024 Feb 27; Vol. 29, pp. e941881. Date of Electronic Publication: 2024 Feb 27.
Autor:
Gao K; Department of Clinical Laboratory, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China. Electronic address: kungao@tongji.edu.cn., Xu X; State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, Shanghai Engineering Research Center of Industrial Microorganisms, School of Life Sciences, Fudan University, Shanghai, China., Wang C; State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, Shanghai Engineering Research Center of Industrial Microorganisms, School of Life Sciences, Fudan University, Shanghai, China. Electronic address: chenjiwang@fudan.edu.cn.
Publikováno v:
Trends in molecular medicine [Trends Mol Med] 2024 Feb; Vol. 30 (2), pp. 113-116. Date of Electronic Publication: 2023 Dec 19.
Autor:
Snyder MT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Manor J; Metabolic Diseases Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Kralik SF; Texas Children's Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Emrick L; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR, China.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63461. Date of Electronic Publication: 2023 Nov 12.