Tehran University of Medical Sciences

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Faculty Members have conducted research related to the Causative Variants Linked With Limb Girdle Muscular Dystrophy in an Iranian Population: 6 Novel Variants
Mahmoudreza Ashrafi
Mahmoudreza Ashrafi

Professor of Pediatric Neurology

Department Pediatrics

School of Medicine

Childrens Medical Center

Growth and Development Research Center

Tehran University of Medical Sciences

All Documents
1. A Comparative Study on Prophylactic Efficacy of Cinnarizine and Amitriptyline in Childhood Migraine: A Randomized Double-Blind Clinical Trial, Cephalalgia (2024)
2. A Comprehensive Study of Mutation and Phenotypic Heterogeneity of Childhood Mitochondrial Leukodystrophies, Brain and Development (2024)
3. An Overview of Early-Onset Cerebellar Ataxia: A Practical Guideline, Acta Neurologica Belgica (2024)
4. Clinical Application of Next Generation Sequencing for Mendelian Disease Diagnosis in the Iranian Population, npj Genomic Medicine (2024)
5. 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)
6. Evaluation of Cerebrospinal Fluid and Plasma Amino Acids Levels in Neonates With Refractory Seizures: A Prospective Cohort Study, Iranian Journal of Neonatology (2024)
7. Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights From a Third-Level Pediatric Emergency Room, Iranian Journal of Child Neurology (2024)
8. Persistent Basal Ganglia Involvement in Aminoacylase-1 Deficiency: Expanding Imaging Findings and Review of Literature, Irish Journal of Medical Science (2024)
9. Safety and Efficacy of Levetiracetam and Carbamazepine Monotherapy in the Management of Pediatric Focal Epilepsy: A Randomized Clinical Trial, Naunyn-Schmiedeberg's Archives of Pharmacology (2024)
10. The Genetic Basis of Early-Onset Hereditary Ataxia in Iran: Results of a National Registry of a Heterogeneous Population, Human Genomics (2024)
11. The Value of Long-Term Video Eeg Monitoring to Diagnose and Track Childhood Epilepsy, Iranian Journal of Child Neurology (2024)
12. Tpp1 Variants in Iranian Patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2, Molecular Syndromology (2024)
13. A Comparative Study of Eeg and Aeeg in Seizure Diagnosis in Infants Admitted to the Nicu, Iranian Journal of Child Neurology (2023)
14. A Comprehensive Overview of Smn and Naip Copy Numbers in Iranian Sma Patients, Scientific Reports (2023)
15. Clinical and Genetic Characteristics of Limb-Girdle Muscular Dystrophy in Iranian Patients, Iranian Journal of Pediatrics (2023)
16. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: An Iranian Case Series Expanding the Genetic and Neuroimaging Spectra, Cerebellum (2023)
17. 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)
18. 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)
19. 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)
20. Efficacy and Safety of Miglustat in the Treatment of Gm2 Gangliosidosis: A Systematic Review, European Journal of Neurology (2023)
21. Efficacy and Safety of Miglustat in the Treatment of Gm2 Gangliosidosis: A Systematic Review, European Journal of Neurology (2023)
22. Evaluation of Patients Presenting With Febrile Seizures in an Iranian Referral Hospital: Emphasis on the Frequency of Meningitis and Co-Infections, BMC Pediatrics (2023)
23. Evaluation of the Effectiveness of Risperidone in Treating Breath-Holding Spells in Children, Iranian Journal of Child Neurology (2023)
24. Expanding the Genetic Spectrum of Giant Axonal Neuropathy: Two Novel Variants in Iranian Families, Molecular Genetics and Genomic Medicine (2023)
25. Expanding the Neuroimaging Findings of Guanidinoacetate Methyltransferase Deficiency in an Iranian Girl With a Homozygous Frameshift Variant in the Gamt, Neurogenetics (2023)
26. High Genetic Heterogeneity of Leukodystrophies in Iranian Children: The First Report of Iranian Leukodystrophy Registry, Neurogenetics (2023)
27. Neurologic Manifestations of Coronavirus Disease 2019 in Children: An Iranian Hospital-Based Study, Archives of Iranian Medicine (2023)
28. Neurological Involvements in Covid-19: A Hospital-Based Study, Iranian Journal of Child Neurology (2023)
29. Neuropsychiatric Manifestations of Covid-19 in Hospitalized Pediatrics: A Multicenter Cross-Sectional Study, Archives of Pediatric Infectious Diseases (2023)
30. Neuropsychiatric Manifestations of Covid-19 in Hospitalized Pediatrics: A Multicenter Cross-Sectional Study, Archives of Pediatric Infectious Diseases (2023)
31. Non-Invasive Electrical Source Imaging for Localizing Epileptiform Discharges in Children With Focal Epilepsy Based on Developing Country’S Limitations, Iranian Journal of Pediatrics (2023)
32. 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)
33. Novel Homozygous Frameshift Variant in the Atcay Gene in an Iranian Patient With Cayman Cerebellar Ataxia; Expanding the Neuroimaging and Clinical Features: A Case Report, BMC Medical Genomics (2023)
34. Phenotype and Genotype Heterogeneity of Pla2g6-Associated Neurodegeneration in a Cohort of Pediatric and Adult Patients, Orphanet Journal of Rare Diseases (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. Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy (Sma-Pme): Three New Cases and Review of the Mutational Spectrum, Italian Journal of Pediatrics (2023)
37. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
38. The First Report of Iranian Registry of Patients With Spinal Muscular Atrophy, Journal of Neuromuscular Diseases (2023)
39. Virtual and In-Person Electroencephalography (Eeg) Training Among Pediatric and Adult Neurology Residents During the Covid-19 Pandemic, Iranian Journal of Pediatrics (2023)
40. 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)
41. Characteristics of Disease Progression and Genetic Correlation in Ambulatory Iranian Boys With Duchenne Muscular Dystrophy, BMC Neurology (2022)
42. Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the Adck3 Gene and Poor Response to Therapy, Journal of Molecular Neuroscience (2022)
43. Genetic Analysis of Forty Mlpa-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing, Journal of Molecular Neuroscience (2022)
44. Hereditary Autonomic Neuropathy of the Oal Cavity and Its Management: A Case Report, Iranian Journal of Child Neurology (2022)
45. Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases, Clinical Neurology and Neurosurgery (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. The Quality of Life in Children With Spinal Muscular Atrophy: A Case–Control Study, BMC Pediatrics (2022)
49. 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)
50. Acer3-Related Leukoencephalopathy: Expanding the Clinical and Imaging Findings Spectrum Due to Novel Variants, Human Genomics (2021)
51. Acer3-Related Leukoencephalopathy: Expanding the Clinical and Imaging Findings Spectrum Due to Novel Variants, Human Genomics (2021)
52. Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation, Clinical Case Reports (2021)
53. 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)
54. Covid-19: A New Horizon in Congenital Heart Diseases, Frontiers in Pediatrics (2021)
55. 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)
56. Cytomegalovirus Infection and Guillain-Barre Syndrome: The First Case-Control Study in Iran, Iranian Journal of Child Neurology (2021)
57. Genetic Testing of Leukodystrophies Unraveling Extensive Heterogeneity in a Large Cohort and Report of Five Common Diseases and 38 Novel Variants, Scientific Reports (2021)
58. 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)
59. Identification of a Novel Missense C.386G > a Variant in a Boy With the Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy, Acta Neurologica Belgica (2021)
60. Menkes Disease, Archives of Iranian Medicine (2021)
61. 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)
62. Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus, Frontiers in Neurology (2021)
63. Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus, Frontiers in Neurology (2021)
64. The Arca Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias, Frontiers in Neurology (2021)
65. An Update on Clinical, Pathological, Diagnostic, and Therapeutic Perspectives of Childhood Leukodystrophies, Expert Review of Neurotherapeutics (2020)
66. Cinnarizine and Sodium Valproate As the Preventive Agents of Pediatric Migraine: A Randomized Double-Blind Placebo-Controlled Trial, Cephalalgia (2020)
67. Clinical Characteristics and Electrodiagnostic Features of Guillain-Barre Syndrome Among the Pediatric Population, Journal of Child Neurology (2020)
68. Clonidine Versus Chloral Hydrate for Recording Sleep Eeg in Children, Iranian Journal of Child Neurology (2020)
69. Coronavirus, Its Neurologic Manifestations, and Complications, Iranian Journal of Pediatrics (2020)
70. 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)
71. Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum, European Journal of Medical Genetics (2020)
72. Modifiable Factors During Cardiopulmonary Bypass in Children and Neonates: What Predicts Early-Onset Neurocomplications After Cardiac Surgery?, Iranian Heart Journal (2020)
73. Novel Imaging and Clinical Phenotypes of Condsias Disorder Caused by a Homozygous Frameshift Variant of Adprhl2: A Case Report, BMC Neurology (2020)
74. 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)
75. Research Paper: The Effects of Emotional Content on Phonological Processing in Children Who Stutter, Iranian Rehabilitation Journal (2020)
76. 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)
77. The Relationship Between Emotional Content and Phonological Processing in Persian Speaking Children Who Stutter: A Study by Event-Related Potential, Journal of Modern Rehabilitation (2020)
78. The Use of Anti-Epileptic Drugs in Prevention of Migraine in Children and Adolescents, Cephalalgia (2020)
79. We Need Well-Designed Multicenter Studies to Investigate Neurologic Manifestations of Coronavirus Disease 2019, Current Journal of Neurology (2020)
80. A Clinical Trial Evaluating the Safety and Efficiency of Cerebrolysin in Children With Autism Spectrum Disorders, Iranian Journal of Pediatrics (2019)
81. An Asymptomatic Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts, Iranian Journal of Pediatrics (2019)
82. Deep Brain Stimulation in Status Dystonicus Caused by Anti-Nmda Receptor Encephalitis, Parkinsonism and Related Disorders (2019)
83. Hypomyelinating Leukodystrophy With Spinal Cord Involvement Caused by a Novel Variant in Rars: Report of Two Unrelated Patients, Neuropediatrics (2019)
84. Impact of Chronic Hypoxia on Neurodevelopment of Children With Cyanotic Congenital Heart Disease, Journal of Iranian Medical Council (2019)
85. Levetiracetam for Prophylactic Treatment of Pediatric Migraine: A Randomized Double-Blind Placebo-Controlled Trial, Cephalalgia (2019)
86. Overexpression of Smn2 Gene in Motoneuron-Like Cells Differentiated From Adipose-Derived Mesenchymal Stem Cells by Ponasterone A, Journal of Molecular Neuroscience (2019)
87. 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)
88. Szt2 Mutation in a Boy With Intellectual Disability, Seizures and Autistic Features, European Journal of Medical Genetics (2019)
89. 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)
90. Costs of Hospitalization Due to Underlying Disease or Its Complications in Children With Cerebral Palsy, Biomedical Research (India) (2018)
91. Seizure As the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report, Iranian Journal of Pediatrics (2018)
92. Serum Total Antioxidant Capacity of Epileptic Children Before and After Monotherapy With Sodium Valproate, Carbamazepine, and Phenobarbital, Iranian Journal of Child Neurology (2018)
93. The Effect of Sodium Valproate on Urinary Frequency and Enuresis Compared to Carbamazepine in Children With Epilepsy, Iranian Journal of Pediatrics (2018)
94. The Efficacy of Cerebrolysin in Improvement of Spasticity in Children With Cerebral Palsy: A Clinical Trial, Iranian Journal of Pediatrics (2018)
95. 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)
96. The Relationship Between Emotional Content and Word Processing in Normal Persian Speaking Children, Iranian Journal of Child Neurology (2018)
97. Association of the Single Nucleotide Polymorphisms of the Genes Encoding Il-2 and Ifn-Γ With Febrile Seizure, Acta Medica Iranica (2017)
98. B3galnt2 Mutations Associated With Non-Syndromic Autosomal Recessive Intellectual Disability Reveal a Lack of Genotype-Phenotype Associations in the Muscular Dystrophy-Dystroglycanopathies, Genome Medicine (2017)
99. Childhood Leukodystrophies: A Literature Review of Updates on New Definitions, Classification, Diagnostic Approach and Management, Brain and Development (2017)
100. 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)
101. Early-Onset Friedreich’S Ataxia With Oculomotor Apraxia, Acta Medica Iranica (2017)
102. Late-Onset Pompe Disease in Iran: A Clinical and Genetic Report, Muscle and Nerve (2017)
103. Lgmd2e Is the Most Common Type of Sarcoglycanopathies in the Iranian Population, Journal of Neurogenetics (2017)
104. Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy, Iranian Journal of Child Neurology (2017)
105. The Efficacy of the Ketogenic Diet in Infants and Young Children With Refractory Epilepsies Using a Formula-Based Powder, Acta Neurologica Belgica (2017)
106. The Influence of Ketogenic Diet on Liver Function in Children and Adolescents With Intractable Epilepsy, Journal of Comprehensive Pediatrics (2017)
107. Tumefactive Multiple Sclerosis Variants: Report of Two Cases of Schilder and Balo Diseases, Iranian Journal of Child Neurology (2017)
108. Association of Interleukin-1 Gene Cluster and Interleukin-1 Receptor Polymorphisms With Febrile Seizures, Journal of Child Neurology (2016)
109. Brain on Fires: Super Refractory Seizure in a 7 Yr Old Boy, Iranian Journal of Child Neurology (2016)
110. The Effects of Classic Ketogenic Diet on Serum Lipid Profile in Children With Refractory Seizures, Acta Neurologica Belgica (2016)
111. The Quality of Life in Boys With Duchenne Muscular Dystrophy, Neuromuscular Disorders (2016)
112. A Novel Mutation in Aspartoacylase Gene; Canavan Disease, Iranian Journal of Child Neurology (2015)
113. Acute Disseminated Encephalomyelitis Mimicking Acute Meningoencephalitis; [Akutni Diseminirani Encefalomijelitis Koji Izgleda Kao Akutni Meningoencefalitis], Acta Clinica Croatica (2015)
114. Association of Il4 Single-Nucleotide Polymorphisms With Febrile Seizures, Journal of Child Neurology (2015)
115. Association of Tgfb, But Not Il10, Single Nucleotide Polymorphisms With Febrile Seizures, Seizure (2015)
116. Clinical and Molecular Study of Npc in Iran: Report of 5 Novel Mutations, Iranian Journal of Child Neurology (2015)
117. Comparative Efficacy of Zonisamide and Pregabalin As an Adjunctive Therapy in Children With Refractory Epilepsy, Iranian Journal of Child Neurology (2015)
118. Eight Novel Mutations in Mlc1 From 18 Iranian Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts, European Journal of Medical Genetics (2015)
119. Evaluation of Educational Environment for Medical Students of a Tertiary Pediatric Hospital in Tehran, Using Dreem Questionnaire, Iranian Journal of Pediatrics (2015)
120. Single Nucleotide Polymorphisms of Tnf-A Gene in Febrile Seizures, Journal of the Neurological Sciences (2015)