Tehran University of Medical Sciences

Science Communicator Platform

Faculty Members have conducted research related to the Identification of Novel Mutations in Tpk1 and Slc19a3 Genes in Families Exhibiting Thiamine Metabolism Dysfunction Syndrome
Masoud Ghahvehchi Akbari

Assistant Professor of Physical Medicine and Rehabilitation

Department Physical Medicine and Rehabilitation

School of Medicine

Childrens Medical Center

Tehran University of Medical Sciences

All Documents
1. Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin, Iranian Journal of Child Neurology (2025)
2. The Outcome and Hospital Discharge Rate After Pediatric in Hospital Cpr During Nights and Weekends, Journal of Iranian Medical Council (2025)
3. Comparative Efficacy of Risdiplam and Nusinersen in Type 2 and 3 Spinal Muscular Atrophy Patients: A Cohort Study Using Real-World Data, Journal of neuromuscular diseases (2024)
4. Comparative Efficacy of Risdiplam and Nusinersen in Type 2 and 3 Spinal Muscular Atrophy Patients: A Cohort Study Using Real-World Data, Journal of neuromuscular diseases (2024)
5. Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights From a Third-Level Pediatric Emergency Room, Iranian Journal of Child Neurology (2024)
6. Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights From a Third-Level Pediatric Emergency Room, Iranian Journal of Child Neurology (2024)
7. Ocular, Speech, and Swallowing Problems in a 9-Year-Old Boy: A Rare Case of Polyneuritis Cranialis, Current Journal of Neurology (2024)
8. The Genetic Basis of Early-Onset Hereditary Ataxia in Iran: Results of a National Registry of a Heterogeneous Population, Human Genomics (2024)
9. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: An Iranian Case Series Expanding the Genetic and Neuroimaging Spectra, Cerebellum (2023)
10. 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)
11. Expanding the Genetic Spectrum of Giant Axonal Neuropathy: Two Novel Variants in Iranian Families, Molecular Genetics and Genomic Medicine (2023)
12. High Genetic Heterogeneity of Leukodystrophies in Iranian Children: The First Report of Iranian Leukodystrophy Registry, Neurogenetics (2023)
13. Long-Term Disability and Poor Outcome Predictors of Guillain-Barre Syndrome in Children: A Systematic Review, Journal of Pediatrics Review (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. An Open-Label Phase 1 Clinical Trial of the Allogeneic Side Population Adipose-Derived Mesenchymal Stem Cells in Sma Type 1 Patients, Neurological Sciences (2022)
20. Characteristics of Disease Progression and Genetic Correlation in Ambulatory Iranian Boys With Duchenne Muscular Dystrophy, BMC Neurology (2022)
21. Mitochondrial Neurogastrointestinal Encephalopathy (Mngie) Disease, Archives of Iranian Medicine (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. Clinical and Imaging Outcomes After Intrathecal Injection of Umbilical Cord Tissue Mesenchymal Stem Cells in Cerebral Palsy: A Randomized Double-Blind Sham-Controlled Clinical Trial, Stem Cell Research and Therapy (2021)
25. Pharmacogenetic and Association Studies on the Influence of Hla Alleles and Rivastigmine on the Iranian Patients With Late-Onset Alzheimer’S Disease, Molecular Neurobiology (2021)
26. Short-Term Efficacy of Ultrasonographic Guidance for Intra-Articular Corticosteroid Injection in Hallux Rigidus: A Single-Blind Randomized Controlled Trial, Foot and Ankle International (2021)
27. The Efficacy of Boswellia Carterii Oleogel in Pain Relief and Functional Improvement Among Patients With Carpal Tunnel Syndrome: A Triple-Blind Randomized, Controlled Trial, Shiraz E Medical Journal (2021)
28. Clinical Characteristics and Electrodiagnostic Features of Guillain-Barre Syndrome Among the Pediatric Population, Journal of Child Neurology (2020)
29. 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)
30. A Novel Case Report of Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy From Iran, International Medical Case Reports Journal (2019)
31. Neuralgic Amyotrophy With Cervical Root and Cranial Nerves Involvement in a Child, Iranian Journal of Child Neurology (2019)
32. Overexpression of Smn2 Gene in Motoneuron-Like Cells Differentiated From Adipose-Derived Mesenchymal Stem Cells by Ponasterone A, Journal of Molecular Neuroscience (2019)
33. Wrist Bone Mineral Density Utility in Diagnosing Hip Osteoporosis in Postmenopausal Women, Therapeutic Advances in Endocrinology and Metabolism (2016)