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Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders

期刊: NEUROPEDIATRICS, 2020; 51 (1)

Muscular dystrophy-dystroglycanopathies (MDDG) are a group of genetically heterogeneous autosomal recessive disorders characterized by hypoglycosylati......

Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature

期刊: NEUROPEDIATRICS, 2020; 51 (1)

Microtubule dynamics plays a crucial role in neuronal development and function. Variants in the tubulin cofactor D ( TBCD ) gene, which encodes one of......

Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review

期刊: NEUROPEDIATRICS, 2020; 51 (3)

Familial hemiplegic migraine type 2 (FHM2) is an autosomal dominant inheritance disorder caused by ATP1A2 mutation, and the clinical spectrum is heter......

AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review

期刊: NEUROPEDIATRICS, 2020; 51 (5)

The congenital myasthenia syndromes (CMS) are a group of autosomal recessive or autosomal dominant diseases that affect neuromuscular junctions. CMS c......

Japanese Encephalitis Virus-Induced Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report and Review of Literature

期刊: NEUROPEDIATRICS, 2019; 50 (2)

Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARe) was originally described as a paraneoplastic disease with more than 50% cases involving ......

JIF:1.65

Surgical Treatment and Long-Term Outcome of Cerebral Cavernous Malformations-Related Epilepsy in Pediatric Patients

期刊: NEUROPEDIATRICS, 2018; 49 (3)

Cerebral cavernous malformations (CMs) are vascular malformations affecting any part of the central nervous system. Clinical data and surgical outcome......

JIF:1.65

Shunt Dependency Syndrome after Cyst-Peritoneal Shunt Resolved by Keyhole Microsurgical Cyst Resection: Two Case Reports and Literature Review

期刊: NEUROPEDIATRICS, 2018; 49 (5)

Objective Shunt dependency syndrome after cyst-peritoneal (CP) shunt is a rare but serious complication which leads to increased intracranial pressure......

JIF:1.65

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

期刊: NEUROPEDIATRICS, 2017; 48 (6)

Background The unfolded protein response (UPR) includes three cascade pathways, which are responsible for the elimination of overload protein that is ......

JIF:1.61

Vascular Architecture Characters and Changes of Pediatric Moyamoya Disease after Combined Bypass Surgery

期刊: NEUROPEDIATRICS, 2022; 53 (3)

Objective We aimed to analyze the angioarchitecture characters and changes after combined bypass surgery (CBS) in pediatric moyamoya disease (MMD). Me......

JIF:1.251

Anti-GFAP Antibody-Associated Hypertrophic Pachymeningitis

期刊: NEUROPEDIATRICS, 2022; 53 (2)

Background Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy is an inflammatory central nervous system (CNS) disorder that usually pres......

JIF:1.251

Clinical Features and Outcomes of Streptococcus pneumoniae Meningitis in Children: A Retrospective Analysis of 26 Cases in China

期刊: NEUROPEDIATRICS, 2022; 53 (1)

Background Streptococcus pneumoniae is an important cause of pediatric meningitis. Objective The aim of this study was to analyze the clinical feature......

JIF:1.251

The Role of the Three-Dimensional Edge-Enhancing Gradient Echo Sequence at 3T MRI in the Detection of Focal Cortical Dysplasia: A Technical Case Report and Literature Review

期刊: NEUROPEDIATRICS, 2022; 53 (6)

Introduction Focal cortical dysplasia (FCD) is a most common cause of intractable focal epilepsy in children. Surgery is considered as a radical optio......

JIF:1.251

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