Tehran University of Medical Sciences

Science Communicator Platform

Faculty Members have conducted research related to the Clinical, Immunological and Molecular Findings of 8 Patients With Typical and Atypical Severe Combined Immunodeficiency: Identification of 7 Novel Mutations by Whole Exome Sequencing
Gholamreza Zamani Ghalehtaki
Gholamreza Zamani Ghalehtaki

Associate Professor of Pediatric Neurology

Department Pediatrics

School of Medicine

Childrens Medical Center

Tehran University of Medical Sciences

All Documents
1. Combination Therapies in Spinal Muscular Atrophy: A Systematic Review, European Journal of Pediatrics (2025)
2. Combination Therapies in Spinal Muscular Atrophy: A Systematic Review, European Journal of Pediatrics (2025)
3. Diversity in Clinical and Neurophysiological Manifestations of Epilepsy With Eyelid Myoclonia (Jeavons Syndrome) in Pediatric Population, Iranian Journal of Child Neurology (2025)
4. Genetic Spectrum Among 2009 Iranian Individuals With Neuromuscular Disorders Using Next Generation Sequencing and Multiple Ligation Dependent Probe Amplification Methods, Scientific Reports (2025)
5. Learning Outcomes of Virtual Journal Clubs in Comparison to Real Ones in Pediatric Neurology Fellows, Iranian Journal of Child Neurology (2025)
6. A Comparative Study on Prophylactic Efficacy of Cinnarizine and Amitriptyline in Childhood Migraine: A Randomized Double-Blind Clinical Trial, Cephalalgia (2024)
7. A Comprehensive Study of Mutation and Phenotypic Heterogeneity of Childhood Mitochondrial Leukodystrophies, Brain and Development (2024)
8. Effectiveness of Electronic Learning Courses on Neurologist Knowledge of Epilepsy Classification: A Study Based on the Kirkpatrick Model, Jundishapur Journal of Chronic Disease Care (2024)
9. A Comprehensive Overview of Smn and Naip Copy Numbers in Iranian Sma Patients, Scientific Reports (2023)
10. Clinical and Genetic Characteristics of Limb-Girdle Muscular Dystrophy in Iranian Patients, Iranian Journal of Pediatrics (2023)
11. Correction To: High Genetic Heterogeneity of Leukodystrophies in Iranian Children: The First Report of Iranian Leukodystrophy Registry (Neurogenetics, (2023), 24, 4, (279-289), 10.1007/S10048-023-00730-Y), Neurogenetics (2023)
12. Evaluation of the Effectiveness of Risperidone in Treating Breath-Holding Spells in Children, Iranian Journal of Child Neurology (2023)
13. High Genetic Heterogeneity of Leukodystrophies in Iranian Children: The First Report of Iranian Leukodystrophy Registry, Neurogenetics (2023)
14. Neurologic Manifestations of Coronavirus Disease 2019 in Children: An Iranian Hospital-Based Study, Archives of Iranian Medicine (2023)
15. Normal Values of Nerve Conduction Studies in Children Aged 7 Days to 14 Years Referred to Electrodiagnosis Clinic of Iranian Children’S Medical Center, Iranian Journal of Pediatrics (2023)
16. Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy (Sma-Pme): Three New Cases and Review of the Mutational Spectrum, Italian Journal of Pediatrics (2023)
17. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
18. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
19. Virtual and In-Person Electroencephalography (Eeg) Training Among Pediatric and Adult Neurology Residents During the Covid-19 Pandemic, Iranian Journal of Pediatrics (2023)
20. Characteristics of Disease Progression and Genetic Correlation in Ambulatory Iranian Boys With Duchenne Muscular Dystrophy, BMC Neurology (2022)
21. Genetic Analysis of Forty Mlpa-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing, Journal of Molecular Neuroscience (2022)
22. The Quality of Life in Children With Spinal Muscular Atrophy: A Case–Control Study, BMC Pediatrics (2022)
23. The Safety and Efficacy of Umbilical Cord Blood Mononuclear Cells in Individuals With Spastic Cerebral Palsy: A Randomized Double-Blind Sham-Controlled Clinical Trial, BMC Neurology (2022)
24. Cytomegalovirus Infection and Guillain-Barre Syndrome: The First Case-Control Study in Iran, Iranian Journal of Child Neurology (2021)
25. Evaluation of Engraftment and Adverse Effects of Granulocyte Colony Stimulating Factor Versus Peg Granulocyte Colony Stimulating Factor in Patients Undergoing Autologous Hematopoietic Stem Cell Transplantation, Iranian Journal of Pharmaceutical Sciences (2021)
26. A Case Report of Congenital Myasthenic Syndrome Caused by a Mutation in the Chrne Gene in the Iranian Population, Iranian Journal of Child Neurology (2020)
27. Clinical Characteristics and Electrodiagnostic Features of Guillain-Barre Syndrome Among the Pediatric Population, Journal of Child Neurology (2020)
28. Clonidine Versus Chloral Hydrate for Recording Sleep Eeg in Children, Iranian Journal of Child Neurology (2020)
29. Designing and Psychometric Evaluation of Disease-Related Fear Scale (D-Rfs) in Adults With Epilepsy: A Sequential Exploratory Mixed Methods Design, Epilepsy and Behavior (2020)
30. The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations, Journal of Molecular Neuroscience (2020)
31. We Need Well-Designed Multicenter Studies to Investigate Neurologic Manifestations of Coronavirus Disease 2019, Current Journal of Neurology (2020)
32. Impact of Chronic Hypoxia on Neurodevelopment of Children With Cyanotic Congenital Heart Disease, Journal of Iranian Medical Council (2019)
33. Levetiracetam for Prophylactic Treatment of Pediatric Migraine: A Randomized Double-Blind Placebo-Controlled Trial, Cephalalgia (2019)
34. Costs of Hospitalization Due to Underlying Disease or Its Complications in Children With Cerebral Palsy, Biomedical Research (India) (2018)
35. Neuropsychiatric Involvement in Juvenile-Onset Systemic Lupus Erythematosus, Neurology Research International (2018)
36. The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System, Journal of Child Neurology (2018)
37. Effects of Social Skills Training on Social Interactions of Children With Epilepsy, Iranian Journal of Psychiatry and Behavioral Sciences (2017)
38. Improved Diagnostic Yield of Neuromuscular Disorders Applying Clinical Exome Sequencing in Patients Arising From a Consanguineous Population, Clinical Genetics (2017)
39. Lgmd2e Is the Most Common Type of Sarcoglycanopathies in the Iranian Population, Journal of Neurogenetics (2017)
40. The Efficacy of the Ketogenic Diet in Infants and Young Children With Refractory Epilepsies Using a Formula-Based Powder, Acta Neurologica Belgica (2017)
41. The Influence of Ketogenic Diet on Liver Function in Children and Adolescents With Intractable Epilepsy, Journal of Comprehensive Pediatrics (2017)
42. Association of Interleukin-1 Gene Cluster and Interleukin-1 Receptor Polymorphisms With Febrile Seizures, Journal of Child Neurology (2016)
43. Comparing Mental Health of School-Age Children With and Without Epilepsy, Iranian Journal of Child Neurology (2016)
44. The Effects of Classic Ketogenic Diet on Serum Lipid Profile in Children With Refractory Seizures, Acta Neurologica Belgica (2016)
45. The Quality of Life in Boys With Duchenne Muscular Dystrophy, Neuromuscular Disorders (2016)
46. Analysis of Dystrophin Gene in Iranian Duchenne and Becker Muscular Dystrophies Patients and Identification of a Novel Mutation, Neurological Sciences (2015)
47. Association of Il4 Single-Nucleotide Polymorphisms With Febrile Seizures, Journal of Child Neurology (2015)
48. Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis, Acta Medica Iranica (2011)