Found: 26
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PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 5, p. 2253, doi. 10.1007/s10072-023-07225-6
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- Publication type:
- Article
Clinical Features, Treatment, and Outcomes Among Chinese Children With Anti-methyl-D-aspartate Receptor (Anti-NMDAR) Encephalitis.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00596
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- Publication type:
- Article
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00505
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- Publication type:
- Article
Telemedicine during the COVID‐19 epidemic improves outcomes in children with tuberous sclerosis complex: A 1206 visits retrospective cohort study.
- Published in:
- CNS Neuroscience & Therapeutics, 2024, v. 30, n. 6, p. 1, doi. 10.1111/cns.14549
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- Article
Quality of life in children with tuberous sclerosis complex: A pediatric cohort study.
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- CNS Neuroscience & Therapeutics, 2021, v. 27, n. 3, p. 280, doi. 10.1111/cns.13473
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- Publication type:
- Article
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0220-7
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- Publication type:
- Article
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 60, doi. 10.1186/s13023-014-0220-7
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- Publication type:
- Article
Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen.
- Published in:
- BMC Pediatrics, 2024, v. 24, p. 1, doi. 10.1186/s12887-024-04955-0
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- Publication type:
- Article
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
- Published in:
- 2020
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- Publication type:
- journal article
Study of correlation and status of compliance with ketogenic diet in children with refractory epilepsy.
- Published in:
- Journal of Epilepsy (2096-0247), 2023, v. 9, n. 1, p. 16, doi. 10.7507/2096-0247.202211006
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- Article
The clinical analysis of ketogenic diet therapy in children with rapidly progressive Dravet syndrome.
- Published in:
- Journal of Epilepsy (2096-0247), 2022, v. 8, n. 6, p. 517, doi. 10.7507/2096-0247.202207012
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- Publication type:
- Article
Clinical features and outcomes of resective surgery in children with frontal lobe epilepsy: The experience of children's epilepsy center.
- Published in:
- Journal of Epilepsy (2096-0247), 2022, v. 8, n. 4, p. 293, doi. 10.7507/2096-0247.202203001
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- Publication type:
- Article
Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00204
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- Publication type:
- Article
Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype–Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.
- Published in:
- Children, 2024, v. 11, n. 8, p. 897, doi. 10.3390/children11080897
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- Publication type:
- Article
Unrelated umbilical cord blood transplantation for children with hereditary leukodystrophy: A retrospective study.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.999919
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- Publication type:
- Article
Nonsense mutations of SMC1A gene cause early onset epilepsy limited to females with cluster seizures: response to ketogenic diet add-on therapy.
- Published in:
- Neurology Asia, 2021, v. 26, n. 1, p. 55
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- Publication type:
- Article
Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case-control study.
- Published in:
- 2021
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- Publication type:
- journal article
Prenatal diagnosis and intervention improve developmental outcomes and epilepsy prognosis in children with tuberous sclerosis complex.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 10, p. 1230, doi. 10.1111/dmcn.15265
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- Publication type:
- Article
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 5, p. 2649, doi. 10.1007/s00415-021-10834-w
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- Publication type:
- Article
Clinical and Neuroimaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.593287
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- Publication type:
- Article
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.01000
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- Publication type:
- Article
One-Stage High-Density Focal Stereo-Array SEEG-Guided Radiofrequency Thermocoagulation for the Treatment of Pediatric Giant Hypothalamic Hamartomas.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.00965
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- Publication type:
- Article
Clinical Characteristic Analysis of Seven Children With Bickerstaff Brainstem Encephalitis in China.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00557
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- Publication type:
- Article
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03217-7
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- Publication type:
- Article
Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine.
- Published in:
- 2019
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- Publication type:
- journal article
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-62
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- Publication type:
- Article