Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research
暂无分享,去创建一个
Yuwu Jiang | Yanling Yang | Jiangxi Xiao | Ye Wu | Xi-ru Wu | Huifang Yan | B. Cao | Jingmin Wang | H. Xiong | Q. Gu | Zhengping Niu | Jing Shang | Han Xie | Mang-mang Guo
[1] G. Ganguly,et al. Van der Knaap disease: a rare disease with atypical features , 2015, BMJ Case Reports.
[2] Zhi-Chun Feng,et al. [Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts]. , 2015, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.
[3] Yuwu Jiang,et al. Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up , 2015, PloS one.
[4] A. Kariminejad,et al. Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. , 2015, European journal of medical genetics.
[5] Peter K. Rogan,et al. Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis , 2014, F1000Research.
[6] G. Uziel,et al. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations , 2013, neurogenetics.
[7] Yu-wu Jiang,et al. [Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts]. , 2012, Zhonghua er ke za zhi = Chinese journal of pediatrics.
[8] M. Knaap,et al. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis , 2012, The Lancet Neurology.
[9] Y. Niida,et al. Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy , 2012, Journal of Human Genetics.
[10] E. Bertini,et al. Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide , 2012, neurogenetics.
[11] Weiqin Wu,et al. [Genetic analysis and prenatal diagnosis for a family with megalencephalic leukoencephalopathy and subcortical cysts]. , 2011, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.
[12] Margreet C. Ridder,et al. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. , 2011, American journal of human genetics.
[13] Yuwu Jiang,et al. Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC) , 2011, Journal of Human Genetics.
[14] G. Scheper,et al. Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. , 2010, Genetic testing and molecular biomarkers.
[15] Yuwu Jiang,et al. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus–Merzbacher-like disease , 2010, Brain and Development.
[16] G. Scheper,et al. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1 , 2006, Human mutation.
[17] Wang Su,et al. Study on reliability and validity of the Chinese version of the gross motor function classification system for cerebral palsy , 2006 .
[18] Wu Xi-ru. Analysis of Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 Gene Mutations in a Chinese Family with Megalencephalic Leukoencephalopathy with Subcortical Cysts , 2006 .
[19] I. Pascual-Castroviejo,et al. Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings. , 2005, Neurologia.
[20] J. D. del Río,et al. Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. , 2004, Human molecular genetics.
[21] J. Trent,et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation , 2004, Neurology.
[22] C. Yalçınkaya,et al. Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts , 2003, Seizure.
[23] E. Bertini,et al. Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts , 2003, Neurology.
[24] S. Tsujino,et al. A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study , 2003, Brain and Development.
[25] F. Hanefeld,et al. Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). , 2003, Neuropediatrics.
[26] A. Bizzi,et al. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. , 2003, Neuropediatrics.
[27] R. Schutgens,et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. , 2001, American journal of human genetics.
[28] W P Robinson,et al. Mechanisms leading to uniparental disomy and their clinical consequences , 2000, BioEssays : news and reviews in molecular, cellular and developmental biology.
[29] B. Singhal,et al. Megalencephalic leukodystrophy in an Asian Indian ethnic group. , 1996, Pediatric neurology.
[30] J. Valk,et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children , 1995, Annals of neurology.