Tehran University of Medical Sciences

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Faculty Members have conducted research related to the Observation of Nine Previously Reported and 10 Non-Reported Slc4a11 Mutations Among 20 Iranian Ched Probands and Identification of an Mpdz Mutation As Possible Cause of Ched and Fecd in One Family
Ali Reza Tavasoli
Ali Reza Tavasoli

Associate Professor of Pediatric Neurology

Department Pediatrics

School of Medicine

Childrens Medical Center

Tehran University of Medical Sciences

All Documents
1. A Report of Dual Presentations of Pseudo-Torch Syndrome 1 and Mcc2 Deficiency and Review of the Literature, Molecular Syndromology (2025)
2. Causes and Outcomes of Hypotonia: A Cross-Sectional Study of Children Admitted to a Pediatric Intensive Care Unit, Frontiers in Emergency Medicine (2025)
3. Clinical Characteristics and Treatment Outcomes in Patients With Niemann–Pick Disease Type C (Np-C): A Cross-Sectional Study, Orphanet Journal of Rare Diseases (2025)
4. Death Causes Among Iranian Children With Leukodystrophies, Journal of Child Neurology (2025)
5. Phenotypic Variability and Preserved Cognition in a Family With Kcna2-Related Developmental Epileptic Encephalopathy, Neurogenetics (2025)
6. Trichothiodystrophy Due to Ercc2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy, Molecular Genetics and Genomic Medicine (2025)
7. A Comparative Study on Prophylactic Efficacy of Cinnarizine and Amitriptyline in Childhood Migraine: A Randomized Double-Blind Clinical Trial, Cephalalgia (2024)
8. A Comprehensive Study of Mutation and Phenotypic Heterogeneity of Childhood Mitochondrial Leukodystrophies, Brain and Development (2024)
9. Brainstem Chipmunk Sign: A Diagnostic Imaging Clue Across All Subtypes of Alexander Disease, American Journal of Neuroradiology (2024)
10. Distinct Neurological Phenotypes Associated With Biallelic Loss of Notch3 Function: Evidence for Recessive Inheritance, Molecular Biology Reports (2024)
11. 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)
12. Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights From a Third-Level Pediatric Emergency Room, Iranian Journal of Child Neurology (2024)
13. Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights From a Third-Level Pediatric Emergency Room, Iranian Journal of Child Neurology (2024)
14. Identification of a Novel Homozygous Gls Gene Variant Associated With Developmental and Epileptic Encephalopathy (Dee) Type 71, Neurogenetics (2024)
15. Persistent Basal Ganglia Involvement in Aminoacylase-1 Deficiency: Expanding Imaging Findings and Review of Literature, Irish Journal of Medical Science (2024)
16. The Genetic Basis of Early-Onset Hereditary Ataxia in Iran: Results of a National Registry of a Heterogeneous Population, Human Genomics (2024)
17. The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review, Cerebellum (2024)
18. Unraveling Neuroimaging Insights in Developmental Epileptic Encephalopathy Type 25: A Comprehensive Review of Reported Cases and A Novel Slc13a5 Variant, Acta Neurologica Belgica (2024)
19. A Mild Form of Neurodegeneration With Brain Iron Accumulation Attributed to Coenzyme a Synthase Mutation, Movement Disorders Clinical Practice (2023)
20. Clinical and Genetic Characteristics of Limb-Girdle Muscular Dystrophy in Iranian Patients, Iranian Journal of Pediatrics (2023)
21. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: An Iranian Case Series Expanding the Genetic and Neuroimaging Spectra, Cerebellum (2023)
22. 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)
23. Correction: Phenotype and Genotype Heterogeneity of Pla2g6-Associated Neurodegeneration in a Cohort of Pediatric and Adult Patients (Orphanet Journal of Rare Diseases, (2023), 18, 1, (177), 10.1186/S13023-023-02780-9), Orphanet Journal of Rare Diseases (2023)
24. Correction: Phenotype and Genotype Heterogeneity of Pla2g6-Associated Neurodegeneration in a Cohort of Pediatric and Adult Patients (Orphanet Journal of Rare Diseases, (2023), 18, 1, (177), 10.1186/S13023-023-02780-9), Orphanet Journal of Rare Diseases (2023)
25. Description of Phenotypic Heterogeneity in a Gjc2 -Related Family and Literature Review, Molecular Syndromology (2023)
26. Efficacy and Safety of Miglustat in the Treatment of Gm2 Gangliosidosis: A Systematic Review, European Journal of Neurology (2023)
27. Efficacy and Safety of Miglustat in the Treatment of Gm2 Gangliosidosis: A Systematic Review, European Journal of Neurology (2023)
28. Evaluation of the Effectiveness of Risperidone in Treating Breath-Holding Spells in Children, Iranian Journal of Child Neurology (2023)
29. Expanding Phenotype Heterogeneity of Nars2 by Presenting Subdural Hematoma and Parenchymal Hemorrhage, Journal of Clinical Laboratory Analysis (2023)
30. Expanding the Genetic Spectrum of Giant Axonal Neuropathy: Two Novel Variants in Iranian Families, Molecular Genetics and Genomic Medicine (2023)
31. Expanding the Neuroimaging Findings of Guanidinoacetate Methyltransferase Deficiency in an Iranian Girl With a Homozygous Frameshift Variant in the Gamt, Neurogenetics (2023)
32. High Genetic Heterogeneity of Leukodystrophies in Iranian Children: The First Report of Iranian Leukodystrophy Registry, Neurogenetics (2023)
33. Neurologic Manifestations of Coronavirus Disease 2019 in Children: An Iranian Hospital-Based Study, Archives of Iranian Medicine (2023)
34. 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)
35. Phenotype and Genotype Heterogeneity of Pla2g6-Associated Neurodegeneration in a Cohort of Pediatric and Adult Patients, Orphanet Journal of Rare Diseases (2023)
36. Phenotype and Genotype Heterogeneity of Pla2g6-Associated Neurodegeneration in a Cohort of Pediatric and Adult Patients, Orphanet Journal of Rare Diseases (2023)
37. Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia and Writer’S Cramp: A Case Report, Neurological Sciences (2023)
38. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
39. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
40. The First Reports of Fa2h-Associated Neurodegeneration From Two Unrelated Iranian Families, Neurological Sciences (2023)
41. A Novel Missense Variant in the Lmnb2 Gene Causes Progressive Myoclonus Epilepsy, Acta Neurologica Belgica (2022)
42. Characteristics of Disease Progression and Genetic Correlation in Ambulatory Iranian Boys With Duchenne Muscular Dystrophy, BMC Neurology (2022)
43. Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the Adck3 Gene and Poor Response to Therapy, Journal of Molecular Neuroscience (2022)
44. Genetic Analysis of Forty Mlpa-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing, Journal of Molecular Neuroscience (2022)
45. Mutation Update: The Spectra of Plec Sequence Variants and Related Plectinopathies, Human Mutation (2022)
46. Novel Phenotype and Genotype Spectrum of Wdr62 in Two Patients With Associated Primary Autosomal Recessive Microcephaly, Irish Journal of Medical Science (2022)
47. Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the Znf335 Gene, Journal of Molecular Neuroscience (2022)
48. Rabenosyn Separation-Of-Function Mutations Uncouple Endosomal Recycling From Lysosomal Degradation, Causing a Distinct Mendelian Disorder, Human Molecular Genetics (2022)
49. Recalcitrant Cutaneous Warts in a Family With Inherited Icos Deficiency, Journal of Investigative Dermatology (2022)
50. Symptomatic Care of Late-Onset Alexander Disease Presenting With Area Postrema-Like Syndrome With Prednisolone; a Case Report, BMC Pediatrics (2022)
51. The Efficacy of the Ketogenic Diet in Improving Seizures and Eeg Findings in Patients With Refractory Infantile Spasms, Iranian Journal of Child Neurology (2022)
52. 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)
53. A Novel Deletion Variant in Cln3 With Highly Variable Expressivity Is Responsible for Juvenile Neuronal Ceroid Lipofuscinoses, Acta Neurologica Belgica (2021)
54. Acer3-Related Leukoencephalopathy: Expanding the Clinical and Imaging Findings Spectrum Due to Novel Variants, Human Genomics (2021)
55. Acer3-Related Leukoencephalopathy: Expanding the Clinical and Imaging Findings Spectrum Due to Novel Variants, Human Genomics (2021)
56. Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation, Clinical Case Reports (2021)
57. 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)
58. Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features, Mitochondrion (2021)
59. Genetic Testing of Leukodystrophies Unraveling Extensive Heterogeneity in a Large Cohort and Report of Five Common Diseases and 38 Novel Variants, Scientific Reports (2021)
60. Gfap Variants Leading to Infantile Alexander Disease: Phenotype and Genotype Analysis of 135 Cases and Report of a De Novo Variant, Clinical Neurology and Neurosurgery (2021)
61. Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review, Developmental Neuroscience (2021)
62. Novel Disease-Causing Variants in a Cohort of Iranian Patients With Metachromatic Leukodystrophy and in Silico Analysis of Their Pathogenicity, Clinical Neurology and Neurosurgery (2021)
63. Novel Manifestations of Warburg Micro Syndrome Type 1 Caused by a New Splicing Variant of Rab3gap1: A Case Report, BMC Neurology (2021)
64. Novel Variants in Critical Domains of Atp8a2 and Expansion of Clinical Spectrum, Human Mutation (2021)
65. A Homozygote Variant in the Trna Splicing Endonuclease Subunit 54 Causes Pontocerebellar Hypoplasia in a Consanguineous Iranian Family, Molecular Genetics and Genomic Medicine (2020)
66. A Novel Missense Variant in Gpt2 Causes Non-Syndromic Autosomal Recessive Intellectual Disability in a Consanguineous Iranian Family, European Journal of Medical Genetics (2020)
67. An Update on Clinical, Pathological, Diagnostic, and Therapeutic Perspectives of Childhood Leukodystrophies, Expert Review of Neurotherapeutics (2020)
68. Cinnarizine and Sodium Valproate As the Preventive Agents of Pediatric Migraine: A Randomized Double-Blind Placebo-Controlled Trial, Cephalalgia (2020)
69. Clinical Characteristics and Electrodiagnostic Features of Guillain-Barre Syndrome Among the Pediatric Population, Journal of Child Neurology (2020)
70. Clonidine Versus Chloral Hydrate for Recording Sleep Eeg in Children, Iranian Journal of Child Neurology (2020)
71. Coronavirus, Its Neurologic Manifestations, and Complications, Iranian Journal of Pediatrics (2020)
72. Expanding the Clinical and Neuroimaging Features of Nkx6-2-Related Hereditary Spastic Ataxia Type 8, European Journal of Medical Genetics (2020)
73. Homozygous In-Frame Variant of Scl6a3 Causes Dopamine Transporter Deficiency Syndrome in a Consanguineous Family, Annals of Human Genetics (2020)
74. Identification of Novel Loss of Function Variants in Mboat7 Resulting in Intellectual Disability, Genomics (2020)
75. Leukoencephalopathy in Al-Raqad Syndrome: Expanding the Clinical and Neuroimaging Features Caused by a Biallelic Novel Missense Variant in Dcps, American Journal of Medical Genetics# Part A (2020)
76. Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum, European Journal of Medical Genetics (2020)
77. Modifiable Factors During Cardiopulmonary Bypass in Children and Neonates: What Predicts Early-Onset Neurocomplications After Cardiac Surgery?, Iranian Heart Journal (2020)
78. Novel Imaging and Clinical Phenotypes of Condsias Disorder Caused by a Homozygous Frameshift Variant of Adprhl2: A Case Report, BMC Neurology (2020)
79. Novel Neuroclinical Findings of Autosomal Recessive Primary Microcephaly 15 in a Consanguineous Iranian Family, European Journal of Medical Genetics (2020)
80. Persistent Dystonia and Basal Ganglia Involvement Following Metronidazole Induced Encephalopathy, Neurological Sciences (2020)
81. Primary Creatine Deficiency Syndrome As a Potential Missed Diagnosis in Children With Psychomotor Delay and Seizure: Case Presentation With Two Novel Variants and Literature Review, Acta Neurologica Belgica (2020)
82. 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)
83. We Need Well-Designed Multicenter Studies to Investigate Neurologic Manifestations of Coronavirus Disease 2019, Current Journal of Neurology (2020)
84. A Clinical Trial Evaluating the Safety and Efficiency of Cerebrolysin in Children With Autism Spectrum Disorders, Iranian Journal of Pediatrics (2019)
85. An Asymptomatic Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts, Iranian Journal of Pediatrics (2019)
86. Deep Brain Stimulation in Status Dystonicus Caused by Anti-Nmda Receptor Encephalitis, Parkinsonism and Related Disorders (2019)
87. Farber Disease: Report of Three Cases With Joint Involvement Mimicking Juvenile Idiopathic Arthritis, Journal of Musculoskeletal Neuronal Interactions (2019)
88. Hypomyelinating Leukodystrophy With Spinal Cord Involvement Caused by a Novel Variant in Rars: Report of Two Unrelated Patients, Neuropediatrics (2019)
89. Il-7Ra Association and Genotype-Dependent Severity and Response to Ifn-Β Therapy in Multiple Sclerosis, Acta Medica Iranica (2019)
90. Levetiracetam for Prophylactic Treatment of Pediatric Migraine: A Randomized Double-Blind Placebo-Controlled Trial, Cephalalgia (2019)
91. Neuralgic Amyotrophy With Cervical Root and Cranial Nerves Involvement in a Child, Iranian Journal of Child Neurology (2019)
92. Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant, Orphanet Journal of Rare Diseases (2019)
93. Clinical Presentation and Outcome in Infantile Sandhoff Disease: A Case Series of 25 Patients From Iranian Neurometabolic Bioregistry With Five Novel Mutations Dr. Segolene Ayme, Orphanet Journal of Rare Diseases (2018)
94. Costs of Hospitalization Due to Underlying Disease or Its Complications in Children With Cerebral Palsy, Biomedical Research (India) (2018)
95. Genotype, Phenotype and in Silico Pathogenicity Analysis of Hexb Mutations: Panel Based Sequencing for Differential Diagnosis of Gangliosidosis, Clinical Neurology and Neurosurgery (2018)
96. Seizure As the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report, Iranian Journal of Pediatrics (2018)
97. The Efficacy of Cerebrolysin in Improvement of Spasticity in Children With Cerebral Palsy: A Clinical Trial, Iranian Journal of Pediatrics (2018)
98. 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)
99. Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor, Journal of Child Neurology (2017)
100. Childhood Leukodystrophies: A Literature Review of Updates on New Definitions, Classification, Diagnostic Approach and Management, Brain and Development (2017)
101. Early Infantile Presentation of 3-Methylglutaconic Aciduria Type 1 With a Novel Mutation in Auh Gene: A Case Report and Literature Review, Brain and Development (2017)
102. Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy, Iranian Journal of Child Neurology (2017)
103. The Efficacy of the Ketogenic Diet in Infants and Young Children With Refractory Epilepsies Using a Formula-Based Powder, Acta Neurologica Belgica (2017)
104. Tumefactive Multiple Sclerosis Variants: Report of Two Cases of Schilder and Balo Diseases, Iranian Journal of Child Neurology (2017)
105. Brain on Fires: Super Refractory Seizure in a 7 Yr Old Boy, Iranian Journal of Child Neurology (2016)
106. New Npc Suspicion Index, Genetics in the Third Millennium (2016)
107. Pharmacogenetic Study on the Impact of Rivastigmine Concerning Genetic Variants of A2m and Il-6 Genes on Iranian Alzheimer’S Patients, Molecular Neurobiology (2016)
108. The Effects of Classic Ketogenic Diet on Serum Lipid Profile in Children With Refractory Seizures, Acta Neurologica Belgica (2016)
109. A Novel Mutation in Aspartoacylase Gene; Canavan Disease, Iranian Journal of Child Neurology (2015)
110. Acute Disseminated Encephalomyelitis Mimicking Acute Meningoencephalitis; [Akutni Diseminirani Encefalomijelitis Koji Izgleda Kao Akutni Meningoencefalitis], Acta Clinica Croatica (2015)
111. Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3, American Journal of Medical Genetics# Part A (2015)