Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations

スポンサーリンク

概要

• 論文の詳細を見る
• 2013-04-01

著者

• Yang Yanling

  Department Of Neurology Peking University First Hospital

• WU Ye

  Department of Pediatrics, Peking University First Hospital

• Wu Ye

  Department Of Pediatrics Peking University First Hospital

• Jiang Yuwu

  Department Of Pediatrics Peking University First Hospital

• Wang Jingmin

  Department Of Pediatrics Peking University First Hospital

• Gu Qiang

  Department Of Biological Sciences Texas Tech University

• Gao Zhijie

  Department Of Neurology Children's Hospital Capital Children's Research Institute Affiliated To Peking University

• ZANG Lili

  Department of Pediatrics, Peking University First Hospital

• XIAO Jiangxi

  Department of Radiology, Peking University First Hospital

関連論文

• Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
• Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
• Genetic studies on SURF1 mutations in Chinese patients with mitochondrial encephalopathy
• A Clinical Survey of 65 Patients with Leigh Syndrome
• Current Status of Research on Inborn Errors of Metabolism in China
• A study on epileptic negative myoclonus in atypical benign partial epilepsy of childhood
• Alpers syndrome with prominent white matter changes
• The effects of antiepileptic drugs on spatial learning and hippocampal protein kinase C γin immature rats
• Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease
• Regulated Expression of an Isopentenyltransferase Gene (IPT) in Peanut Significantly Improves Drought Tolerance and Increases Yield Under Field Conditions
• Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease
• Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
• Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)
• Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
• Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay
• Epilepsy in children with methylmalonic acidemia : Electroclinical features and prognosis
• Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations
• Increased Expression of Netrin-1 and Its Deleted in Colorectal Cancer Receptor in Human Diseased Lumbar Intervertebral Disc Compared With Autopsy Control

もっと見る 閉じる

スポンサーリンク