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Synthesis and Characterization of Sulfonamide-Containing Naphthalimides as Fluorescent Probes

Molecules (Basel, Switzerland), 2024-06, Vol.29 (12), p.2774

2024

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De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay

Movement disorders, 2015-08, Vol.30 (9), p.1290-1292

2015

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

CNS neuroscience & therapeutics, 2019-06, Vol.25 (6), p.759-771

2019

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A survey on pediatric anti-N-methyl-D-aspartate-receptor encephalitis treatment strategies in China

Chinese medical journal, 2020-12, Vol.134 (12), p.1498-1499

2020

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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

World journal of pediatrics : WJP, 2024, Vol.20 (1), p.82-91

2024

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High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability

PloS one, 2012-04, Vol.7 (4), p.e34739

2012

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Postoperative clinical outcomes of patients with thymic epithelial tumors after over-3-year follow-up at a single-center

Journal of cardiothoracic surgery, 2023-02, Vol.18 (1), p.77-77, Article 77

2023

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Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

Chinese medical journal, 2016-03, Vol.129 (6), p.672-678

2016

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

World journal of pediatrics : WJP, 2019-10, Vol.15 (5), p.454-464

2019

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

Chinese medical journal, 2015-07, Vol.128 (13), p.1772-1777

2015

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Treatment-Related Costs of Childhood Epilepsy in Mainland China: A Preliminary Study in a Tertiary Pediatric Epilepsy Center

Journal of child neurology, 2019-02, Vol.34 (2), p.68-73

2019

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

Chinese medical journal, 2010-07, Vol.123 (13), p.1663-1667

2010

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Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome

Chinese medical journal, 2006-03, Vol.119 (5), p.373-377

2006

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Advance in genetic study for idiopathic generalized epilepsy

Beijing da xue xue bao. Journal of Peking University. Yi xue ban, 2013-04, Vol.45 (2), p.186

2013

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Imaging diagnosis of osteopoiknosis: a report of 6 cases in four generations of one family and 3 sporadic cases

Zhongguo gu shang, 2016-06, Vol.29 (6), p.566

2016

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Emergency management of seizure and convulsive status epilepticus in children

Zhonghua er ke za zhi, 2011-08, Vol.49 (8), p.592

Jiang, Yu-wu

2011

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Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease

Chinese medical journal, 2008-09, Vol.121 (17), p.1638-1642

2008

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Clinical presentations of pediatric anti-N-methyl-D-aspartate receptor encephalitis

Zhongguo dang dai er ke za zhi, 2014-06, Vol.16 (6), p.575

2014

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Surgery for pediatric intractable epilepsy due to posterior quadrantic cortical dysplasia

Zhongguo dang dai er ke za zhi, 2017-03, Vol.19 (3), p.259-263

2017

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Enhance neurogenetic etiologic studies actively and standardize diagnosis of neurodevelopmental disorders

Zhonghua er ke za zhi, 2009-08, Vol.47 (8), p.561

Jiang, Yu-wu

2009

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Co-morbidity of attention deficit hyperactivity disorder in children with epilepsy

Zhongguo dang dai er ke za zhi, 2012-02, Vol.14 (2), p.89

2012

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Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Zhonghua er ke za zhi, 2012-01, Vol.50 (1), p.50

2012

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Effects on oligodendrocytic function resulting from proteolipid protein 1 gene mutations

Sheng li kʻo hsüeh chin chan, 2012-08, Vol.43 (4), p.271

2012

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

Zhonghua er ke za zhi, 2012-12, Vol.50 (12), p.895

2012

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Genetic and phenotypic characteristics of SCN1A mutations in Dravet syndrome

Zhonghua yi xue yi chuan xue za zhi, 2012-12, Vol.29 (6), p.625

2012

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Synthesis and Characterization of Sulfonamide-Containing Naphthalimides as Fluorescent Probes

De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay

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

A survey on pediatric anti-N-methyl-D-aspartate-receptor encephalitis treatment strategies in China

PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability

Postoperative clinical outcomes of patients with thymic epithelial tumors after over-3-year follow-up at a single-center

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

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

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

Treatment-Related Costs of Childhood Epilepsy in Mainland China: A Preliminary Study in a Tertiary Pediatric Epilepsy Center

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

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome

Advance in genetic study for idiopathic generalized epilepsy

Imaging diagnosis of osteopoiknosis: a report of 6 cases in four generations of one family and 3 sporadic cases

Emergency management of seizure and convulsive status epilepticus in children

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease

Clinical presentations of pediatric anti-N-methyl-D-aspartate receptor encephalitis

Surgery for pediatric intractable epilepsy due to posterior quadrantic cortical dysplasia

Enhance neurogenetic etiologic studies actively and standardize diagnosis of neurodevelopmental disorders

Co-morbidity of attention deficit hyperactivity disorder in children with epilepsy

Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Effects on oligodendrocytic function resulting from proteolipid protein 1 gene mutations

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

Genetic and phenotypic characteristics of SCN1A mutations in Dravet syndrome

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