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
Shahriar Nafissi
Shahriar Nafissi

Professor of Neuromuscular Disease

Department Neurology

School of Medicine

Shariati Hospital

Tehran University of Medical Sciences

All Documents
1. Identification of Rnf13 As Cause of Recessively Inherited Als in a Multi-Case Pedigree, Journal of Medical Genetics (2023)
2. Adverse Drug Reactions of Rituximab in Patients Suffering From Autoimmune Neurological Diseases, DARU# Journal of Pharmaceutical Sciences (2022)
3. Clinical and Genetic Spectrum of a Large Cohort of Patients With Δ-Sarcoglycan Muscular Dystrophy, Brain (2022)
4. Disease Severity and Response to Treatment in Iranian Patients With Myasthenia Gravis, Neurological Sciences (2022)
5. Iranian Consensus Recommendations for Treatment of Myasthenia Gravis, Archives of Iranian Medicine (2022)
6. Sparse Representation of Brain Signals Offers Effective Computation of Cortico-Muscular Coupling Value to Predict the Task-Related and Non-Task Semg Channels: A Joint Hdeeg-Semg Study, PLoS ONE (2022)
7. The Value of Munix As an Objective Electrophysiological Biomarker of Disease Progression in Chronic Inflammatory Demyelinating Polyneuropathy, Muscle and Nerve (2022)
8. Validation of Myasthenia Gravis Activity of Daily Living Questionnaire: Persian Version, Current Journal of Neurology (2022)
9. A Case of Adult Onset Sandhoff Disease That Mimics Brown-Vialetto-Van Laere Syndrome, Neuromuscular Disorders (2021)
10. Application of Cmap Scan for the Evaluation of Patients With Chronic Inflammatory Demyelinating Polyneuropathy: A Prospective Study, Neurophysiologie Clinique (2021)
11. Association of Hla Class Ii Alleles With Disease Severity and Treatment Response in Iranian Patients With Myasthenia Gravis, Journal of Neuromuscular Diseases (2021)
12. Bvvl/ Fl: Features Caused by Slc52a3 Mutations; Wdfy4 and Tnfsf13b May Be Novel Causative Genes, Neurobiology of Aging (2021)
13. Deep Geno- and Phenotyping in Two Consanguineous Families With Cmt2 Reveals Hadha As an Unusual Disease-Causing Gene and an Intronic Variant in Gdap1 As an Unusual Mutation, Journal of Neurology (2021)
14. Description of Clinical Features and Genetic Analysis of One Ultra-Rare (Spg64) and Two Common Forms (Spg5a and Spg15) of Hereditary Spastic Paraplegia Families, Journal of Neurogenetics (2021)
15. Efficacy of a 6-Week Supervised Strengthening Exercise Program With Emg-Biofeedback in Patients With Muscular Dystrophy: A Randomized Controlled Trial, Muscles# Ligaments and Tendons Journal (2021)
16. Electrophysiological Studies in Patients With Seropositive/Seronegative Myasthenia Gravis, Current Journal of Neurology (2021)
17. Guillain-Barre Syndrome and Covid-19 Vaccine: A Report of Nine Patients, Basic and Clinical Neuroscience (2021)
18. Investigating the Possible Association Between Nlrp3 Gene Polymorphisms and Myasthenia Gravis, Muscle and Nerve (2021)
19. Myasthenia Gravis Associated With Novel Coronavirus 2019 Infection: A Report of Three Cases, Clinical Neurology and Neurosurgery (2021)
20. Novel Mutations of the Tymp Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review, Journal of Molecular Neuroscience (2021)
21. Persian Adaptation of Edinburgh Cognitive and Behavioural Screen (Ecas), Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2021)
22. Practical Needs and Considerations for Refugees and Other Forcibly Displaced Persons With Neurological Disorders: Recommendations Using a Modified Delphi Approach, Gates Open Research (2021)
23. Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus, Frontiers in Neurology (2021)
24. Retrospective Analysis of Response to Rituximab in Chronic Inflammatory Demyelinating Polyneuropathy Refractory to First-Line Therapy, Journal of the Peripheral Nervous System (2021)
25. Sporadic Late-Onset Nemaline Myopathy With Monoclonal Gammopathy of Undetermined Significance: Report of Four Patients, Neuromuscular Disorders (2021)
26. The Correlation of the Serum Level of L-Carnitine With Disease Severity in Patients With Amyotrophic Lateral Sclerosis, Journal of Clinical Neuroscience (2021)
27. Thigh and Leg Muscle Mri Findings in Gne Myopathy, Journal of Neuromuscular Diseases (2021)
28. Zytux in Refractory Myasthenia Gravis: A Multicenter, Open-Labeled, Clinical Trial Study of Effectiveness and Safety of a Rituximab Biosimilar, Frontiers in Neurology (2021)
29. A Novel Heteroplasmic Mutation in Mitochondrial Trna Arg Gene Associated With Non-Dystrophic Myotonias, Acta Neurologica Belgica (2020)
30. Adult-Onset Very-Long-Chain Acyl-Coa Dehydrogenase Deficiency (Vlcadd), European Journal of Neurology (2020)
31. Application of Muscle Ultrasound for the Evaluation of Patients With Amyotrophic Lateral Sclerosis: An Observational Cross-Sectional Study, Muscle and Nerve (2020)
32. Description of Combined Arhsp/Jals Phenotype in Some Patients With Spg11 Mutations, Molecular Genetics and Genomic Medicine (2020)
33. Evaluation of Quality of Life and Mood Disorders in Caregivers of Patients With Amyotrophic Lateral Sclerosis: A Single-Center Cross-Sectional Study, Current Journal of Neurology (2020)
34. Guillain-Barre Syndrome in Patients With Coronavirus Disease-2019: Report of Six Cases and Review of Literature, Current Journal of Neurology (2020)
35. Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum, Archives of Iranian Medicine (2020)
36. Multiple Acyl-Coenzyme a Dehydrogenase Deficiency Shows a Possible Founder Effect and Is the Most Frequent Cause of Lipid Storage Myopathy in Iran, Journal of the Neurological Sciences (2020)
37. Poglut1 Biallelic Mutations Cause Myopathy With Reduced Satellite Cells, Α-Dystroglycan Hypoglycosylation and a Distinctive Radiological Pattern, Acta Neuropathologica (2020)
38. Sequential Targeted Exome Sequencing of 1001 Patients Affected by Unexplained Limb-Girdle Weakness, Genetics in Medicine (2020)
39. The Role of Opening Csf Pressure in Response to Treatment for Idiopathic Intracranial Hypertension (Iih), Journal of Clinical Neuroscience (2020)
40. Validation of Persian Individualized Neuromuscular Quality of Life in Patients With Muscular Dystrophies, Current Journal of Neurology (2020)
41. Continuum of Phenotypes in Hereditary Motor and Sensory Neuropathy With Proximal Predominance and Charcot–Marie–Tooth Patients With Tfg Mutation, American Journal of Medical Genetics# Part A (2019)
42. Evaluation of Quality of Life in Patients With Chronic Inflammatory Demyelinating Polyneuropathy in Iran, Journal of Clinical Neuromuscular Disease (2019)
43. Extending the Clinical and Mutational Spectrum of Trim32 -Related Myopathies in a Non-Hutterite Population, Journal of Neurology# Neurosurgery and Psychiatry (2019)
44. Mutation Screening of Slc52a3, C19orf12, and Tardbp in Iranian Als Patients, Neurobiology of Aging (2019)
45. Popdc3 Gene Variants Associate With a New Form of Limb Girdle Muscular Dystrophy, Annals of Neurology (2019)
46. Celiac Disease in Patients With Neuropathy, Govaresh (2018)
47. Delayed-Onset Inflammatory Polyneuropathy Without Graft Versus Host Disease After Bone Marrow Transplantation, Muscle and Nerve (2018)
48. Detection of Variants in Dystroglycanopathy-Associated Genes Through the Application of Targeted Whole-Exome Sequencing Analysis to a Large Cohort of Patients With Unexplained Limb-Girdle Muscle Weakness, Skeletal Muscle (2018)
49. Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3, Journal of Clinical Neuromuscular Disease (2018)
50. Genotype and Phenotype Analysis of 43 Iranian Facioscapulohumeral Muscular Dystrophy Patients; Evidence for Anticipation, Neuromuscular Disorders (2018)
51. High Frequency of Tc22 and Th22 Cells in Myasthenia Gravis Patients and Their Significant Reduction After Thymectomy, NeuroImmunoModulation (2018)
52. Limb Girdle Muscular Dystrophy Due to Mutations in Pomt2, Journal of neurology# neurosurgery# and psychiatry (2018)
53. Phenotypic Stratification and Genotype–Phenotype Correlation in a Heterogeneous, International Cohort of Gne Myopathy Patients: First Report From the Gne Myopathy Disease Monitoring Program, Registry Portion, Neuromuscular Disorders (2018)
54. Ryanodine Receptor Type 3 (Ryr3) As a Novel Gene Associated With a Myopathy With Nemaline Bodies, European Journal of Neurology (2018)
55. Safety and Efficacy of Nanocurcumin As Add-On Therapy to Riluzole in Patients With Amyotrophic Lateral Sclerosis: A Pilot Randomized Clinical Trial, Neurotherapeutics (2018)
56. De Novo Mutation in Cacna1s Gene in a 20-Year-Old Man Diagnosed With Metabolic Myopathy, Archives of Iranian Medicine (2017)
57. Improved Diagnostic Yield of Neuromuscular Disorders Applying Clinical Exome Sequencing in Patients Arising From a Consanguineous Population, Clinical Genetics (2017)
58. Late-Onset Pompe Disease in Iran: A Clinical and Genetic Report, Muscle and Nerve (2017)
59. Lgmd2e Is the Most Common Type of Sarcoglycanopathies in the Iranian Population, Journal of Neurogenetics (2017)
60. Diagnostic Laboratory Challenges About Charcot-Marie-Tooth Disease, Genetics in the Third Millennium (2016)
61. Effect of Vitamin a Supplementation on Fatigue and Depression in Multiple Sclerosis Patients: A Double-Blind Placebo-Controlled Clinical Trial, Iranian Journal of Allergy# Asthma and Immunology (2016)
62. Evaluation of Point Mutations in Dystrophin Gene in Iranian Duchenne and Becker Muscular Dystrophy Patients: Introducing Three Novel Variants, Journal of Genetics (2016)
63. Genetics of Gne Myopathy in the Non-Jewish Persian Population, European Journal of Human Genetics (2016)
64. Identification of Mutation in Gtpbp2 in Patients of a Family With Neurodegeneration Accompanied by Iron Deposition in the Brain, Neurobiology of Aging (2016)
65. Identification of Novel Tfg Mutation in Hmsn-P Pedigree: Emphasis on Variable Clinical Presentations, Journal of the Neurological Sciences (2016)
66. International Clinimetric Evaluation of the Mg-Qol15, Resulting in Slight Revision and Subsequent Validation of the Mg-Qol15r, Muscle and Nerve (2016)
67. Intraspinal Delivery of Bone Marrow Stromal Cell-Derived Neural Stem Cells in Patients With Amyotrophic Lateral Sclerosis: A Safety and Feasibility Study, Journal of the Neurological Sciences (2016)
68. Iranian Consensus on Use of Vitamin D in Patients With Multiple Sclerosis, BMC Neurology (2016)
69. Mutation in Adora1 Identified As Likely Cause of Early-Onset Parkinsonism and Cognitive Dysfunction, Movement Disorders (2016)
70. Personality Characteristics in Ms Patients: The Role of Avoidant Personality, Clinical Neurology and Neurosurgery (2016)
71. Report of Limb Girdle Muscular Dystrophy Type 2A in 6 Iranian Patients, One With a Novel Deletion in Capn3 Gene, Neuromuscular Disorders (2016)
72. Trends of Quality of Life Changes in Amyotrophic Lateral Sclerosis Patients, Journal of the Neurological Sciences (2016)
73. Validation of the 15-Item Myasthenia Gravis Quality of Life Questionnaire (Mg-Qol15) Persian Version, Muscle and Nerve (2016)
74. Amyotrophic Lateral Sclerosis Progression: Iran-Als Clinical Registry, a Multicentre Study, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2015)
75. Association of Hla Class Ii (Drb1, Dqa1, Dqb1) Alleles and Haplotypes With Myasthenia Gravis and Its Subgroups in the Iranian Population, Journal of the Neurological Sciences (2015)
76. Blink Reflex May Help Discriminate Alzheimer Disease From Vascular Dementia, Journal of Clinical Neurophysiology (2015)
77. Diagnosis and Treatment of Late-Onset Pompe Disease in the Middle East and North Africa Region: Consensus Recommendations From an Expert Group, BMC Neurology (2015)
78. Dysferlinopathy in Iran: Clinical and Genetic Report, Journal of the Neurological Sciences (2015)
79. Granulocyte Colony-Stimulating Factor for Amyotrophic Lateral Sclerosis: A Randomized, Double-Blind, Placebo-Controlled Study of Iranian Patients, Journal of Clinical Neurology (Korea) (2015)
80. Hmsn-P Caused by P.Pro285leu Mutation in Tfg Is Not Confined to Patients With Far East Ancestry, Neurobiology of Aging (2015)
81. Impact of Vitamin a Supplementation on Disease Progression in Patients With Multiple Sclerosis, Archives of Iranian Medicine (2015)
82. 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)
83. Report of a Patient With Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy, Archives of Iranian Medicine (2015)