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Variants loci and phenotype correlation of TRIM8-related neuro-renal syndrome: three cases reports and literature review.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1410187
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- Publication type:
- Article
Current Status, Diagnosis, and Treatment Recommendation for Tic Disorders in China.
- Published in:
- Frontiers in Psychiatry, 2020, p. N.PAG, doi. 10.3389/fpsyt.2020.00774
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- Publication type:
- Article
Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01144
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- Publication type:
- Article
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00821
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- Publication type:
- Article
A long journey to treat epilepsy with the gut microbiota.
- Published in:
- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1386205
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- Publication type:
- Article
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
- Published in:
- 2020
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- Publication type:
- journal article
Glucocorticoid use and varying doses on the long-term outcomes of offspring born to patients with systemic lupus erythematosus.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 5, p. 2231, doi. 10.1007/s00431-024-05462-1
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- Publication type:
- Article
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00603
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- Publication type:
- Article
Editorial: Ketogenic Diet in Epilepsy and Associated Comorbidities: Clinical Efficacy and Mechanisms.
- Published in:
- 2020
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- Publication type:
- Editorial
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03148-3
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- Publication type:
- Article
Genetic susceptibility to cow's milk allergy in Chinese children.
- Published in:
- 2022
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- Publication type:
- journal article
Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.743833
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- Publication type:
- Article
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.697467
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- Publication type:
- Article
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.
- Published in:
- Journal of Neurodevelopmental Disorders, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s11689-020-09327-0
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- Publication type:
- Article
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.
- Published in:
- PLoS ONE, 2022, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0265766
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- Publication type:
- Article
Aetiologic and clinical characteristics of syncope in Chinese children.
- Published in:
- Acta Paediatrica, 2007, v. 96, n. 10, p. 1505, doi. 10.1111/j.1651-2227.2007.00446.x
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- Publication type:
- Article
Altered gut microbiota correlates with cognitive impairment in Chinese children with Down's syndrome.
- Published in:
- European Child & Adolescent Psychiatry, 2022, v. 31, n. 1, p. 189, doi. 10.1007/s00787-021-01799-2
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- Publication type:
- Article
Population pharmacokinetics of lamotrigine in Chinese children with epilepsy.
- Published in:
- Acta Pharmacologica Sinica, 2012, v. 33, n. 11, p. 1417, doi. 10.1038/aps.2012.118
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- Publication type:
- Article
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 7, p. 421, doi. 10.1038/jhg.2010.39
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- Publication type:
- Article
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
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- Journal of Human Genetics, 2009, v. 54, n. 2, p. 74, doi. 10.1038/jhg.2008.10
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- Publication type:
- Article
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 8, p. 769, doi. 10.1007/s10038-008-0306-y
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- Publication type:
- Article
Additions to the knowledge of the genus Eumenes Latreille, 1802 from China (Hymenoptera, Vespidae, Eumeninae).
- Published in:
- Journal of Hymenoptera Research, 2023, n. 96, p. 697, doi. 10.3897/jhr.96.107701
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- Publication type:
- Article
The Role of Microtubule Associated Serine/Threonine Kinase 3 Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnmol.2021.775479
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- Publication type:
- Article
Clinical Diagnosis, Treatment, and <i>ALDH7A1</i> Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092803
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- Publication type:
- Article
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 1, p. 73, doi. 10.1002/epi4.12286
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- Publication type:
- Article
Inhibition of TRIB3 Protects Against Neurotoxic Injury Induced by Kainic Acid in Rats.
- Published in:
- Frontiers in Pharmacology, 2019, p. N.PAG, doi. 10.3389/fphar.2019.00585
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- Publication type:
- Article
Recombinant Human Erythropoietin Protects Against Hippocampal Damage in Developing Rats with Seizures by Modulating Autophagy via the S6 Protein in a Time-Dependent Manner.
- Published in:
- Neurochemical Research, 2018, v. 43, n. 2, p. 465, doi. 10.1007/s11064-017-2443-1
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- Publication type:
- Article
Predictive effects of platelet-to-lymphocyte ratio on neonatal thrombocytopenia in primary immune thrombocytopenic mothers: a retrospective cohort study.
- Published in:
- BMC Pregnancy & Childbirth, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12884-023-06010-9
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- Publication type:
- Article
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 409, doi. 10.1002/jimd.12183
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- Publication type:
- Article
Chinese expert recommendations on ketogenic diet therapy for super-refractory status epilepticus.
- Published in:
- Acta Epileptologica, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42494-021-00078-6
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- Publication type:
- Article
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy.
- Published in:
- 2008
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- Publication type:
- Letter
Clinical features and underlying etiology of children with Lennox–Gastaut syndrome.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5392, doi. 10.1007/s00415-024-12465-3
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- Publication type:
- Article
Retrospective analysis of data from 73 patients with childhood acute promyelocytic leukaemia receiving modified chemotherapy: a single-centre study.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2021, v. 147, n. 4, p. 1189, doi. 10.1007/s00432-020-03406-4
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- Publication type:
- Article
Autism Symptoms in Fragile X Syndrome.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 10, p. 903, doi. 10.1177/0883073817712875
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- Publication type:
- Article
Disseminated Encephalomyelitis-Like Central Nervous System Neoplasm in Childhood.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 8, p. NP28, doi. 10.1177/0883073813495444
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- Publication type:
- Article
Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 3, p. 384, doi. 10.1177/0883073812441251
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- Publication type:
- Article
Epilepsy and Narcolepsy-Cataplexy in a Child.
- Published in:
- 2012
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- Publication type:
- Case Study
Neck Myoclonia With Absence Seizures: Report of 3 Cases.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 8, p. 1026, doi. 10.1177/0883073808327828
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- Publication type:
- Article
Phaeohyphomycosis of the Central Nervous System Caused by Exophiala dermatitidis in a 3-Year-Old Immunocompetent Host.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 3, p. 342, doi. 10.1177/0883073808323524
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- Publication type:
- Article
Partial Seizures and Atypical Absence Seizures as a Single Ictal Event in a Patient With Lennox-Gastaut Syndrome.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 11, p. 139, doi. 10.1177/0883073808318055
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- Publication type:
- Article
Spinal Cord Demyelination Associated With Biotinidase Deficiency in 3 Chinese Patients.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 2, p. 156, doi. 10.1177/0883073807300307
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- Publication type:
- Article
Clinical and Biochemical Studies on Chinese Patients With Methylmalonic Aciduria.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 12, p. 1020, doi. 10.1177/7010.2006.00231
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- Publication type:
- Article
Neuropathologic and Clinical Features in Eight Chinese Patients With Leigh Disease.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 6, p. 450, doi. 10.1177/088307380201700611
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- Publication type:
- Article
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 72, doi. 10.1186/1471-2350-11-72
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- Publication type:
- Article
Characterization of developing rat cortical neurons after epileptiform discharges
- Published in:
- International Journal of Developmental Neuroscience, 2010, v. 28, n. 6, p. 455, doi. 10.1016/j.ijdevneu.2010.06.006
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- Publication type:
- Article
POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1355484
- By:
- Publication type:
- Article
Editorial: Neuromodulation for pharmacoresistant epilepsy: from bench to bed.
- Published in:
- Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2024.1354897
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- Publication type:
- Article
Oxcarbazepine oral suspension in young pediatric patients with partial seizures and/or generalized tonic-clonic seizures in routine clinical practice in China: a prospective observational study.
- Published in:
- World Journal of Pediatrics, 2018, v. 14, n. 3, p. 280, doi. 10.1007/s12519-017-0114-6
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- Publication type:
- Article
Oxcarbazepine oral suspension in pediatric patients with partial seizures and/or generalized tonic-clonic seizures: a multi-center, single arm, observational study in China.
- Published in:
- World Journal of Pediatrics, 2017, v. 13, n. 6, p. 551, doi. 10.1007/s12519-017-0045-2
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- Publication type:
- Article
Niemann-Pick disease type C: analysis of 7 patients.
- Published in:
- World Journal of Pediatrics, 2012, v. 8, n. 1, p. 61, doi. 10.1007/s12519-011-0284-6
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- Publication type:
- Article