Search Results - "Ren, Xiaotun"
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Autoimmune cerebellar ataxia associated with anti-leucine-rich glioma-inactivated protein 1 antibodies: Two pediatric cases
Published in Journal of neuroimmunology (15-09-2022)“…To report two pediatric cases of autoimmune cerebellar ataxia associated with the anti-Leucine-rich glioma-inactivated protein 1 (LGI1)antibodies. The clinical…”
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Clinical Features and Outcomes of Anti-N-Methyl-d-Aspartate Receptor Encephalitis in Infants and Toddlers
Published in Pediatric neurology (01-06-2021)“…We describe the clinical features and outcomes of anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis in infants and toddlers. This was a single-center…”
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Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants
Published in Frontiers in neurology (17-06-2021)“…Background: Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a rare autosomal recessive cerebral microangiopathy. Recently, biallelic…”
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Pediatric anti-N-methyl-D-aspartate receptor encephalitis with MOG-Ab co-existence: Relapse propensity and treatability
Published in Multiple sclerosis and related disorders (01-02-2022)“…To investigate the clinical characteristics of the anti-N-methyl-D-aspartate receptor(NMDAR)encephalitis with anti-myelin oligodendrocyte glycoprotein…”
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Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation
Published in Stem cell research (01-03-2022)“…Mutations in CARS2 gene, encoding for the mitochondrial cysteinyl-tRNA synthetase, has been reported to be associated with early-onset epileptic encephalopathy…”
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Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China
Published in Pediatric investigation (01-09-2024)“…ABSTRACT Importance Aicardi–Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research…”
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Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report
Published in Frontiers in neurology (01-09-2022)“…Background Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder with heterogeneous phenotype, including…”
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Case Report: Autoimmune Encephalitis Associated With Anti-glutamic Acid Decarboxylase Antibodies: A Pediatric Case Series
Published in Frontiers in neurology (12-04-2021)“…Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurologic conditions described in patients, including stiff person syndrome,…”
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Study of B Cell Repertoire in Patients With Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Published in Frontiers in immunology (29-07-2020)“…Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common antibody-mediated encephalitis. There are several studies on B cell repertoire of…”
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High levels of cerebrospinal fluid soluble triggering receptor expressed on myeloid cells 2 might be a biomarker of activity in pediatric patients with MOG-AD
Published in Frontiers in pediatrics (13-10-2022)“…Myelin oligodendrocyte glycoprotein antibody disease (MOG-AD) is characterized by its monophasic or relapsing course and inflammatory demyelinating condition…”
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Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow‐up
Published in Pediatric investigation (01-03-2022)“…ABSTRACT Importance The phenotypes of ATP1A3 gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever‐induced paroxysmal weakness…”
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NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Published in Brain (London, England : 1878) (01-02-2020)Get full text
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Immunotherapies for Anti-N-M-methyl-D-aspartate Receptor Encephalitis: Multicenter Retrospective Pediatric Cohort Study in China
Published in Frontiers in pediatrics (29-06-2021)“…Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been discovered for more than a decade, but the establishment of standardized…”
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Antenatal taurine reduces cerebral cell apoptosis in fetal rats with intrauterine growth restriction
Published in Neural regeneration research (15-08-2013)“…From pregnancy to parturition, Sprague-Dawley rats were daily administered a low protein diet to establish a model of intrauterine growth restriction. From the…”
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Anti-Purkinje Cell Cytoplasmic Antibody Type 2-Associated Autoimmune Cerebellar Degeneration in Children: A Different Phenotype From Adults
Published in Pediatric neurology (01-11-2024)“…Anti-Purkinje cell cytoplasmic antibody type 2 (PCA-2) is associated with various neurological conditions in adults. However, related studies have not been…”
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Clinical and Radiologic Features Among Children With Myelin Oligodendrocyte Glycoprotein Antibody-Associated Myelitis
Published in Pediatric neurology (01-06-2023)“…Myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD) often manifests as optic neuritis, transverse myelitis(TM), and acute…”
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The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients
Published in Brain & development (Tokyo. 1979) (01-09-2023)“…To evaluate the clinical spectrum associated with ATP1A2 variants in Chinese children with hemiplegia, migraines, encephalopathy or seizures. Sixteen children…”
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HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy
Published in Neuromuscular disorders : NMD (01-09-2023)“…•Creatine kinase levels were moderately to severely elevated in childhood with NLSDM.•Almost half of the patients with NLSDM had cardiac involvement after…”
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Autoimmune cerebellar ataxia associated with anti-Purkinje cells antibodies: the next frontier of neuroimmunology
Published in Annals of translational medicine (15-04-2023)“…Autoimmune cerebellar ataxia (ACA) is an important cause of sporadic cerebellar ataxia. Technological innovation promotes the rapid development of cerebellar…”
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Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children
Published in Developmental medicine and child neurology (01-03-2023)“…Aim To explore the clinical and genetic spectrum of hereditary spastic paraplegia (HSP) in Chinese children. Method This retrospective study was conducted…”
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