Nafissi, Shahriar
Tehran University of Medical Sciences
H-index: 31
Asia-Iran
Top articles of Nafissi, Shahriar
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Identification of a mutation in TNRC18 in a patient with clinical features of Fazio‐Londe disease | Clinical Case Reports | Marzieh Khani Hosein Shamshiri Shahriar Nafissi Najmeh Salehi Hamidreza Moazzeni | 2024/1 |
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population | Thyroid | Lucy X Ma Osvaldo Espin-Garcia Philippe L Bedard Tracy Stockley Rebecca Prince | 2022/6/1 |
The investigation of killer-cell immunoglobulin-like receptors (KIRs) and their HLA ligands in Iranian patients with myasthenia gravis. | Clinical rheumatology | Jülide Duymaz Tozkır Hilmi Tozkır Hakan Gürkan Salim Dönmez Damla Eker | 2016/4 |
Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients | Neuromuscular Disorders | Hamed Shahriyari Mahtab Ramezani Yalda Nilipour Ali Asghar Okhovat Ariana Kariminejad | 2024/2/1 |
P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders | Genetics in Medicine Open | Ayda Abolhassani Zohreh Fattahi Maryam Beheshtian Mahsa Fadaee Raheleh Vazehan | 2024/1/1 |
Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis | Neuromuscular Disorders | Fariba Zemorshidi Ana Töpf Kristl G Claeys Adam McFarlane Annabel Patton | 2024/1/1 |
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum | Orphanet Journal of Rare Diseases | Omid Hesami Mahtab Ramezani Aida Ghasemi Farzad Fatehi Ali Asghar Okhovat | 2024/3/12 |
The First Report of Iranian Registry of patients with spinal muscular atrophy | Journal of neuromuscular diseases | Vahid Mansouri Morteza Heidari Maryam Bemanalizadeh Reza Azizimalamiri Shahriar Nafissi | 2023/1/1 |
Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran | Archives of Iranian medicine | Masoumeh Goleyjani Moghadam Zohreh Elahi Mohamad Soveyzi Sanaz Arzhangi Shahriar Nafissi | 2023/5 |
Long-term subclinical severe hyperCKemia associated with a rare VPS13A gene mutation in an Iranian patient: Case report | Current Journal of Neurology | Seyed Jalaleddin Hadei Bardiya Ghaderi-Yazdi Shahriar Nafissi | 2023/12/25 |
Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report | Molecular Genetics & Genomic Medicine | Zohreh Elahi Mohamad Soveyzi Shahriar Nafissi Yalda Nilipour Masoumeh Goleyjani Moghadam | 2023/4 |
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants | European Journal of Human Genetics | Alireza Haghighi Zahra Alvandi Yalda Nilipour Amirreza Haghighi Ruth Kornreich | 2023/11 |
Comparison of Clinical, Ultrasound, and Electrophysiologic Changes in Chronic Inflammatory Demyelinating Polyneuropathy: A Prospective Study | Journal of Clinical Neurophysiology | Ali Asghar Okhovat Shahriar Nafissi Kamyar Moradi Bentolhoda Ziaadini Akram Panahi | 2023/3/29 |
The Association Between Muscular Ultrasonographic Alterations and Clinical Symptoms in Patients With Inflammatory Myopathy | Basic and Clinical Neuroscience | Farzad Fatehi Parisa Khaghani Ali Asghar Okhovat Kamyar Moradi Farzad Teimouri | 2023/9/1 |
Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients | Neuromuscular Disorders | Fariba Zemorshidi Shahriar Nafissi Reza Boostani Ehsan Ghayoor Karimiani Bahram Haghi Ashtiani | 2023/7/1 |
Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree | Journal of Medical Genetics | Marzieh Khani Shahriar Nafissi Hosein Shamshiri Hamidreza Moazzeni Hanieh Taheri | 2023/3/1 |
Iranian clinical practice guideline for amyotrophic lateral sclerosis | Reza Boostani Nahid Olfati Hosein Shamshiri Zanireh Salimi Farzad Fatehi | 2023/6/2 | |
Practical needs and considerations for refugees and other forcibly displaced persons with neurological disorders: Recommendations using a modified Delphi approach | Gates open research | Shawheen Rezaei Foksouna Sakadi Fu-Liong Hiew Ildefonso Rodriguez-Leyva Jera Kruja | 2021 |
Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears | Canadian Journal of Neurological Sciences | Seyyed-Saleh Hashemi Reza Hajati Atefeh Davarzani Mohammad Rohani Fardad DanaeeFard | 2022/9 |
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy | Brain | Jorge Alonso-Pérez Lidia González-Quereda Claudio Bruno Chiara Panicucci Afagh Alavi | 2022/2/1 |
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