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
Ali Nikkhah
Ali Nikkhah

Assistant Professor of Pediatric Neurology

Tehran University of Medical Sciences

All Documents
1. Tasp1-Related Suleiman–El-Hattab Syndrome: The First Genetically Confirmed Case in Iran Accompanied by a Comprehensive Literature Review, Journal of Molecular Neuroscience (2026)
2. Ataxia Telangiectasia With Giant Suprasellar Arachnoid Cyst - a Case Report and a Brief Review, Iranian Journal of Child Neurology (2025)
3. Prediction of Breath-Holding Spells Based on Electrocardiographic Parameters Using Machine-Learning Model, Annals of Noninvasive Electrocardiology (2024)
4. The Genetic Basis of Early-Onset Hereditary Ataxia in Iran: Results of a National Registry of a Heterogeneous Population, Human Genomics (2024)
5. 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)
6. High Genetic Heterogeneity of Leukodystrophies in Iranian Children: The First Report of Iranian Leukodystrophy Registry, Neurogenetics (2023)
7. Neurological Involvements in Covid-19: A Hospital-Based Study, Iranian Journal of Child Neurology (2023)
8. Coronavirus, Its Neurologic Manifestations, and Complications, Iranian Journal of Pediatrics (2020)
9. Benign Enlargement of Subarachnoid Space in Infancy: “A Review With Emphasis on Diagnostic Work-Up”, Iranian Journal of Child Neurology (2018)
10. Efficacy and Safety of Intramuscular Midazolam Versus Rectal Diazepam in Controlling Status Epilepticus in Children, European Journal of Paediatric Neurology (2015)
11. Usability of the Head Upright Tilt Test for Differentiating Between Syncopal and Seizure-Like Events in Children, Acta Neurologica Belgica (2015)