Jingmin Wang

发表

Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease

Ming Li, Yuwu Jiang, Ye Wu, 2022, Orphanet Journal of Rare Diseases.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

L. D. de Vries, A. Patapoutian, R. Taft, 2019, American journal of human genetics.

Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy

L. D. de Vries, A. Patapoutian, R. Taft, 2019, bioRxiv.

Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus–Merzbacher-Like Disease

Yuwu Jiang, Ye Wu, T. Ji, 2017, Neuropediatrics.

Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus–Merzbacher-like disease

Yuwu Jiang, Xi-ru Wu, Jingmin Wang, 2010, Brain and Development.

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

Yuwu Jiang, Yanling Yang, N. Zhong, 2010, BMC Medical Genetics.

Study on the Economic Burden of Neurodevelopmental Diseases on Patients With Genetic Diagnosis

Zhiqun Xie, Donghua Xie, Junqun Fang, 2022, Frontiers in Public Health.

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Y. Qi, H. Pan, Jingmin Wang, 2020, Orphanet Journal of Rare Diseases.

Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay

Yuwu Jiang, Ye Wu, T. Ji, 2010, Journal of Human Genetics.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

Fei Li, X. Ji, Xuefan Gu, 2018, BMC Medical Genomics.

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

Yuwu Jiang, Yanling Yang, Jiangxi Xiao, 2013, Journal of Human Genetics.

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

N. Perrimon, M. Burmeister, J. Penninger, 2022, EMBO molecular medicine.

Clinical and Genetic Characteristics and Prenatal Diagnosis of Rare Monogenic Global Developmental Delay and Intellectual Disability.

H. Pan, Jingmin Wang, Yu Qi, 2020 .

Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants

Zhixian Yang, Yuehua Zhang, Yuwu Jiang, 2014, PloS one.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus–Merzbacher Disease

M. He, Liangyi Chen, Liuju Li, 2021, Neuroscience.

Alterations of NR2B and PSD-95 expression after early-life epileptiform discharges in developing neurons

Yuwu Jiang, Xi-ru Wu, Jingmin Wang, 2007, International Journal of Developmental Neuroscience.

Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation

T. Toda, T. Endo, Yuwu Jiang, 2016, Journal of Human Genetics.

Secretomics Alterations and Astrocyte Dysfunction in Human iPSC of Leukoencephalopathy with Vanishing White Matter

Yuwu Jiang, Ye Wu, Jingmin Wang, 2022, Neurochemical Research.

Modeling vanishing white matter disease with patient‐derived induced pluripotent stem cells reveals astrocytic dysfunction

P. Li, Li Shen, Yu-wu Jiang, 2019, CNS neuroscience & therapeutics.

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

M. Burmeister, T. Kubisiak, Jiangxi Xiao, 2018, Brain : a journal of neurology.

Fukutin gene retrotransposal insertion in a non‐Japanese Fukuyama congenital muscular dystrophy (FCMD) patient

Yun Yuan, T. Toda, Yuwu Jiang, 2009, American journal of medical genetics. Part A.

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

Zhixian Yang, Huixia Yang, Yuehua Zhang, 2018, International journal of genomics.

Epilepsy in children with leukodystrophies

Zhen Shi, Yuwu Jiang, Ye Wu, 2020, Journal of Neurology.

Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood.

Ming Liu, Yuwu Jiang, Weijing Kong, 2019, Pediatric neurology.

Clinical and genetic study in Chinese patients with Alexander disease.

Yuwu Jiang, Yanling Yang, Ye Wu, 2008 .

Endoplasmic reticulum stress intolerance in EIF2B3 mutant oligodendrocytes is modulated by depressed autophagy

Yuwu Jiang, Ye Wu, L. Dai, 2016, Brain and Development.

Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes

Yu-wu Jiang, Ye Wu, Jingmin Wang, 2015, Chinese medical journal.

Rearrangement structure-independent strategy of CNV breakpoint analysis

L. Jin, Jianqiu Xiao, C. Zhong, 2014, Molecular Genetics and Genomics.

Long-term effects of seizures in neonatal rats on spatial learning ability and N-methyl-D-aspartate receptor expression in the brain.

Yuwu Jiang, Xi-ru Wu, Jingmin Wang, 2004, Brain research. Developmental brain research.

c-Fos, N-methyl-d-aspartate receptor 2C, GABA-A-α1 immonoreactivity, seizure latency and neuronal injury following single or recurrent neonatal seizures in hippocampus of Wistar rat

Xi-ru Wu, Yu-wu Jiang, Jingmin Wang, 2005, Neuroscience Letters.

Long-term effects of neonatal seizures on subsequent N-methyl-d-aspartate receptor-1 and gamma-aminobutyric acid receptor A-α1 receptor expression in hippocampus of the Wistar rat

Xi-ru Wu, H. Pan, Yu-wu Jiang, 2004, Neuroscience Letters.

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing

M. Burmeister, Yuehua Zhang, X. Bao, 2021, Journal of Human Genetics.

Characterization of developing rat cortical neurons after epileptiform discharges

Yuwu Jiang, Ye Wu, Xi-ru Wu, 2010, International Journal of Developmental Neuroscience.

Early-life epileptiform discharges exert both rapid and long-lasting effects on AMPAR subunit composition and distribution in developing neurons

Yuwu Jiang, Ye Wu, Xi-ru Wu, 2008, Neuroscience Letters.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

Zhixian Yang, Yuehua Zhang, X. Bao, 2018, PloS one.

Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Y. Liu, Zhixian Yang, Yuwu Jiang, 2019, Scientific Reports.

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage‐sensitive genes with clinical severity in genomic disorders

J. Lupski, C. Carvalho, Hongyan Wang, 2017, Human molecular genetics.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2022, Human mutation.

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

Xuegong Zhang, P. Sham, Xueya Zhou, 2016, Scientific Reports.

High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability

Yiping Shen, Bai-Lin Wu, Y. An, 2012, PloS one.

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities

Yuehua Zhang, Yuwu Jiang, Xiaoyan Liu, 2015, PloS one.

Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease

Yun Yuan, Ying Han, J. Qin, 2013, Journal of child neurology.

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

Xiaoping Yang, Zhen Shi, Yuwu Jiang, 2019, BMC Medical Genetics.

Ming Liu, Yuwu Jiang, Ye Wu, 2018, Journal of Neurology.

Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients.

Jie Li, Yu-wu Jiang, Ye Wu, 2010, Chinese medical journal.

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease

Xiaoping Yang, Chengfeng Zhao, Zhixian Yang, 2017, Metabolic Brain Disease.

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

Yuwu Jiang, Yanling Yang, Jiangxi Xiao, 2016, PloS one.

Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models

Zhen Shi, Yuwu Jiang, Yanling Yang, 2019, World Journal of Pediatrics.

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

Zhen Shi, Yuwu Jiang, Kaili Shi, 2019, BMC Medical Genetics.

Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up

Yuwu Jiang, Ye Wu, Xi-ru Wu, 2015, PloS one.

[Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].

Yu-wu Jiang, Ye Wu, Xi-ru Wu, 2012, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)

Yuwu Jiang, Ye Wu, Xi-ru Wu, 2011, Journal of Human Genetics.

Maternal Overweight and Obesity during Pregnancy Are Associated with Neonatal, but Not Maternal, Hepcidin Concentrations.

M. Burmeister, B. Lozoff, A. Jones, 2021, The Journal of nutrition.

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability

Yuehua Zhang, Yuwu Jiang, Xiaoyan Liu, 2015, Epilepsia.

Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.

Yuwu Jiang, Wenshu XiangWei, Jinliang Li, 2019, Gene.

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy

M. Burmeister, T. Kubisiak, Yuwu Jiang, 2022, Cells.

Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1

W. Shen, Kun Chang, Huifang Yan, 2021, Medicine.

Congenital muscular dystrophies in China

Zhaoxia Wang, Yun Yuan, C. Bönnemann, 2019, Clinical genetics.

Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder

Z. Xiong, Xiaoli Chen, Yuwu Jiang, 2015, BMC Pediatrics.

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Xiaoping Yang, D. Liang, Xuefan Gu, 2018, American journal of human genetics.

Human‐induced pluripotent stem cell‐derived cerebral organoid of leukoencephalopathy with vanishing white matter

Yuwu Jiang, Ye Wu, Jingmin Wang, 2023, CNS neuroscience & therapeutics.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Kiely N. James, A. Fatemi, M. Tarnopolsky, 2019, The Journal of clinical investigation.

Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Yuwu Jiang, Ye Wu, Xi-ru Wu, 2012, PloS one.

Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy

T. Netoff, Yuehua Zhang, Yuwu Jiang, 2014, PloS one.

Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease

C. Proud, Xuemin Wang, Yuwu Jiang, 2011, Journal of Human Genetics.

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease

Jie-ling Li, Yuwu Jiang, Ye Wu, 2009, Journal of Human Genetics.

Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter

Yuwu Jiang, Ye Wu, Jingmin Wang, 2021, Frontiers in Genetics.

[Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].

Yuehua Zhang, Yanling Yang, Jiangxi Xiao, 2007, Zhonghua er ke za zhi = Chinese journal of pediatrics.

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

P. Chan, R. Du, Yuehua Zhang, 2012, Human Genetics.

[A clinical and genetic analysis of a child with supernumerary marker chromosome 15-caused mental retardation, intractable epilepsy, and central precocious puberty].

Q. Jiang, Jingmin Wang, Qian Chen, 2018, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Identification of GJC2 gene mutations in chinese patients with Pelizaeus-Merzbacher-like disease.

Yuwu Jiang, Jiangxi Xiao, Ye Wu, 2016, Minerva pediatrica.

Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus–Merzbacher disease

Yuwu Jiang, Ye Wu, Xi-ru Wu, 2015, Brain and Development.

Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis.

Yuehua Zhang, Ling Zhang, A. Yu, 2018, Advances in neurobiology.

FIBCD1 is a Conserved Receptor for Chondroitin Sulphate Proteoglycans of the Brain Extracellular Matrix and a Candidate Gene for a Complex Neurodevelopmental Disorder

N. Perrimon, M. Burmeister, J. Penninger, 2021 .

Natural history and genotype‐phenotype correlation of pantothenate kinase‐associated neurodegeneration

Yuwu Jiang, Ye Wu, Jingmin Wang, 2020, CNS neuroscience & therapeutics.

In Vitro Effects of Acitretin on Human Neuronal SH-SY5Y Cells

Yuwu Jiang, Ye Wu, Jingmin Wang, 2022, Neurochemical Research.

Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation

Yanquan Mo, Liangyi Chen, Xiaolu Zheng, 2023, Science China Life Sciences.

ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.

X. Bao, Yuwu Jiang, H. Pan, 2007, Pediatric neurology.

Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study

Yuwu Jiang, Ye Wu, Jingmin Wang, 2020, Orphanet Journal of Rare Diseases.

Long-term effect of early discharge on sEPSC and [Ca2+]i in developing neurons

Yuwu Jiang, Xi-ru Wu, Jingmin Wang, 2006, Neuroscience Letters.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

X. Ji, Xuefan Gu, L. Liang, 2018, BMC medical genomics.

Neuroblastoma SH-SY5Y Cell Differentiation to Mature Neuron by AM580 Treatment

Yuwu Jiang, Ye Wu, Jingmin Wang, 2022, Neurochemical Research.

The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.

M. Burmeister, T. Kubisiak, Yuwu Jiang, 2022, Brain : a journal of neurology.

Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy

Ming Liu, M. Liu, Yuwu Jiang, 2018, Clinical genetics.

Novel insight into the potential pathogenicity of mitochondrial dysfunction resulting from PLP1 duplication mutations in patients with Pelizaeus–Merzbacher disease Authors

Liuju Li, Xiaolu Zheng, Shiqun Zhao, 2021 .

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2021, Human mutation.

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability

Yuehua Zhang, Yuwu Jiang, Xiaoyan Liu, 2015, Epilepsia.

Characterization of developing rat cortical neurons after epileptiform discharges

Yuwu Jiang, Ye Wu, Xi-ru Wu, 2010, International Journal of Developmental Neuroscience.