Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

Autor: Wu SN; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No. 255 Gangdu Street, Zhengzhou, China., E HS; Department of Pediatric Endocrinology and Genetics, Fujian Children's Hospital, Fuzhou, China., Yu Y; The Center for Pediatric Liver Diseases, Children's Hospital, Fudan University, Shanghai, China., Ling SY; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Liang LL; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Qiu WJ; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Zhang HW; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Shuai RX; Department of Pediatrics, Second Affiliated Hospital of Naval Medical University, Shanghai, China., Wei HY; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No. 255 Gangdu Street, Zhengzhou, China., Yang CJ; Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China., Xu P; Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China., Chen XG; Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China., Zou H; Center of Neonatal Disease Screening, Jinan Maternal and Child Health Care Hospital, Jinan, China., Feng JZ; Center of Neonatal Disease Screening, Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, China., Niu TT; Center of Neonatal Disease Screening, Shandong Maternal and Child Health Care Hospital, Jinan, China., Hu HL; Center of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei, China., Zhang KC; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Lu DY; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Gong ZW; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Zhan X; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Ji WJ; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Gu XF; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China., Chen YX; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No. 255 Gangdu Street, Zhengzhou, China. cyx75@126.com., Han LS; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, No. 1665 Kongjiang Road, Shanghai, China. hanlianshu@xinhuamed.com.cn.

Publikováno v: World journal of pediatrics : WJP [World J Pediatr] 2024 Aug; Vol. 20 (8), pp. 848-858. Date of Electronic Publication: 2023 Dec 09.

Neural substrates of excessive daytime sleepiness in early drug naïve Parkinson's disease: A resting state functional MRI study.

Autor: Wen MC; Department of Research, National Neuroscience Institute, Singapore., Ng SY; Department of Research, National Neuroscience Institute, Singapore., Heng HS; Department of Research, National Neuroscience Institute, Singapore., Chao YX; Department of Research, National Neuroscience Institute, Singapore; Duke-NUS Graduate Medical School, Singapore., Chan LL; Department of Diagnostic Radiology, Singapore General Hospital, Singapore., Tan EK; Department of Research, National Neuroscience Institute, Singapore; Duke-NUS Graduate Medical School, Singapore; Department of Neurology, National Neuroscience Institute, Singapore., Tan LC; Duke-NUS Graduate Medical School, Singapore; Department of Neurology, National Neuroscience Institute, Singapore. Electronic address: louis_tan@nni.com.sg.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2016 Mar; Vol. 24, pp. 63-8. Date of Electronic Publication: 2016 Jan 12.

Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome.

Autor: Davis T; Institute of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK, davist2@cardiff.ac.uk., Tivey HS, Brook AJ, Grimstead JW, Rokicki MJ, Kipling D

Publikováno v: Age (Dordrecht, Netherlands) [Age (Dordr)] 2013 Oct; Vol. 35 (5), pp. 1767-83. Date of Electronic Publication: 2012 Sep 22.

p38 (MAPK) stress signalling in replicative senescence in fibroblasts from progeroid and genomic instability syndromes.

Autor: Tivey HS; Institute of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK., Brook AJ, Rokicki MJ, Kipling D, Davis T

Publikováno v: Biogerontology [Biogerontology] 2013 Feb; Vol. 14 (1), pp. 47-62. Date of Electronic Publication: 2012 Oct 31.

Glutamate receptor-mediated effects on growth and morphology of human histiocytic lymphoma cells.

Autor: Haas HS; Department of Pathophysiology, Medical University Graz, A-8010 Graz, Austria. helga.haas@meduni-graz.at, Pfragner R, Siegl V, Ingolic E, Heintz E, Schauenstein K

Publikováno v: International journal of oncology [Int J Oncol] 2005 Sep; Vol. 27 (3), pp. 867-74.