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Mahmoud Reza Ashrafi

children's medical center

26H-index
275Paper Count
2.7KCitation Count
Published Papers 46
Publication Date
Inherited metabolic disorder-related genes and mutation spectrum in Iranians: an 11-year analysis using next-generation sequencing and sanger sequencing
err2026-10-02
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errParnian Alagha; Negar Molaei; Maryam Beheshtian; Fatemeh Ahangari; Shima Dehdahsi; Mahsa Fadaee; Mehri Ashki; Zhila Ghaderi; Zohreh Elahi; Raheleh Vazehan; Maryam Mozaffarpour Nouri; Parishad Saei; Khadijeh Noudehi; Fatemeh Fatehi; Shima Zamanian Najafabadi; Fariba Afroozan; Banafsheh Salmani; Mahdieh kooshki; Armita Ghaderi; Zohreh Vahidi; Mina Makvand; Atiyeh Ahmadpour; Mahsa Tahmasebivand; Elmira Shiuokhi; Saeed Talebi; Reza Shervin Badv; Babak Zamani; Farhad Mahvelati-Shamsabadi; Bahram Haghi Ashtiani; Payam Sarraf; Haleh Habibi; Afshin Fayyazi; Ali Asghar Okhovat; Mahmoud Reza Ashrafi; Farzad Fatehi; Parvaneh Karimzadeh; Shahriar Nafissi; Kimia Kahrizi; Ariana Kariminejad; Hossein Najmabadi
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Clinical, genetic, neuroimaging, and severity spectrum of peroxisomal disorders in Iran: a multicenter cohort study
err2026-08-12
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errGolazin Shahbodagh Khan; Narges Mashayekhi; Shiva Bayat; Mehran Beiraghi Toosi; Sareh Hosseinpour; Neda Pak; Danielle Dircks; Zahra Rezaei; Reza Shervin Badv; Gholam Reza Zamani; Mahmoud Mohammadi; Mojtaba Movahednia; Parvaneh Karimzadeh; Reza Maroofian; Michael C. Kruer; Ehsan Ghayoor Karimiani; Masoud Garshasbi; Mahmoud Reza Ashrafi; Morteza Heidari; Ali Reza Tavasoli
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Three repeated intrathecal injections of allogenic umbilical cord-derived mesenchymal stromal cells in autism spectrum disorder: a Phase I clinical trial
err2026-07-30
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errElaheh Khodadoust; Hadi Zarafshan; Masoumeh Nouri; Anahita Majmaa; Ali Khaleghi; Fatemeh Zamani; Milad Seyfi; Mohammad Amin Shahrbaf; Solaleh Samimi; Bahareh Sadri; Seyedeh Malihe Mahmoodi; Norouz Abdi; Ali Ghasemi; Mahmoud Reza Ashrafi; Morteza Zarrabi; Massoud Vosough; Mohammad Reza Mohammadi
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MECP2 Variant Spectrum and Genotype–Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation
err2026-05-29
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PREAI
errParnoush Booalizadeh; Iman Salahshourifar; Bahareh Rabbani; Morteza Rezvani; Mahmoud Reza Ashrafi; Nejat Mahdieh
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Impact of stem cell therapy on brain metabolic profile in cerebral palsy assessed by magnetic resonance spectroscopy in a randomized clinical trial
err2026-05-19
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errMelika Jameie; Neda Pak; Mehrdad Mozafar; Hadis Farazmand; Elaheh Khodadoust; Anahita Majmaa; Mobina Amanollahi; Morteza Zarrabi; Masoumeh Nouri; Masood Ghahvechi Akbari; Ali Reza Moaiedi; Reza Shervin Badv; Massoud Vosough; Amir Ali Hamidieh; Hadi Montazerlotfelahi; Ali Reza Tavasoli; Morteza Heidari; Safdar Masoomi; Fatemeh Zamani; Mahmoud Reza Ashrafi
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Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort
err2026-05-01
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PREAI
errRezaei, Zahra; Emami, Farnoosh; Heidari, Morteza; Mohammadi, Mahmoud; Yousefian, Milad; Badv, Reza Shervin; Kowkabi, Safoura; Mahdieh, Nejat; Ashrafi, Mahmoud Reza
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Differentiation of Comorbid Neurodevelopmental Conditions in Pediatric Speech Delay: A Cross-Sectional Study
err2026-01-01
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PREAI
errAshrafi, Mahmoud Reza; Heidari, Morteza; Hosseinpour, Sareh; Kargar, Amirhosein; Abadi, Manijeh Zarei Mahmood; Jabbari, Hadis; Pourbakhtyaran, Elham; Yousefimanesh, Hossein; Mohammadi, Mahmoud
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A Novel Mutation of CADHERIN (CDH15) in an Iranian Boy With Borderline Intelligence Without Dysmorphism-A Case Report
err2025-12-01
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errAshrafi, Mahmoud Reza; Nikkhah, Ali; Heidari, Morteza; Aziz-Ahari, Solmaz; Rezaei, Zahra; Rashidi-Nezhad, Ali; Khan, Golazin Shahbodagh; Sinaei, Roya; Bayat, Shiva
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Carrier frequency of spinal muscular atrophy: a large-scale study in Iranian population
err2025-11-01
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PREAI
errSavad, Shahram; Modarressi, Mohammad-Hossein; Seifi-Alan, Mahnaz; Samadaian, Niusha; Amidi, Saloomeh; Masoomy, Mona; Norouzi, Shima; Seifi-Alan, Sanaz; Ronagh, Alireza; Nourian, Shahab; Younesi, Sarang; Amin, Mohammad Mahdi Taheri; Eslami, Maryam; Iranpourb, Mostafa; Mohammadi, Asyeh; Parastooei, Bahar; Heydarii, Maryam Mahdi; Boroumandj, Amirreza; Ashrafi, Mahmoud Reza; Jahedi, Donya; Hosseininezhad, Zahra; Farmanbar, Akram; Peyravifard, Nastaran; Ardakani, Hossein Shojaaldini; Montazerlotfelahi, Hadi; Rasoulinezhad, Maryam; Mirchi, Bita; Heidari, Morteza; Soori, Mojdeh; Ghafouri-Fard, Soudeh
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Clinical characteristics and treatment outcomes in patients with Niemann–Pick disease type C (NP-C): a cross-sectional study
err2025-08-29
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errParvaneh Karimzadeh; Farzad Ahmadabadi; Vahide Zeinali; Sharareh Kamfar; Mahmoud Reza Ashrafi; Ali Reza Tavasoli; Seyed Hassan Tonekaboni; Faezeh Ghanaati
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Combination therapies in spinal muscular atrophy: a systematic review
err2025-08-29
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PREAI
errMaryam Bemanalizadeh; Leida Heidary; Mohammad Sedigh Dakkali; Shiva Hadizadeh; Naser Ahmadbeigi; Morteza Heidari; Gholamreza Zamani; Mahmoudreza Ashrafi; Vahid Mansouri
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ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects
err2025-01-24
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errSalami, Fereshte; Shad, Tannaz Moeini; Fathi, Nazanin; Mojtahedi, Hanieh; Esmaeili, Marzie; Shahkarami, Sepideh; Afrakoti, Ladan Gol Mohammad Pour; Amirifar, Parisa; Delavari, Samaneh; Nosrati, Hassan; Razavi, Azadehsadat; Ranjouri, Mohammad Reza; Yousefpour, Mahsa; Esfahani, Zahra Hamidi; Azizi, Gholamreza; Ashrafi, Mahmoudreza; Rezaei, Nima; Yazdani, Reza
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Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data
err2024-12-20
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PREAI
errAshrafi, Mahmoud Reza; Babaee, Marzieh; Hashemi Nazari, Seyed Saeed; Barzegar, Mohammad; Ghazavi, Mohammadreza; Beiraghi Toosi, Mehran; Inaloo, Soroor; Zamani Ghaletaki, Gholamreza; Fatehi, Farzad; Heshmat, Ramin; Ghahvechi Akbari, Masood; Abdi, Alireza; Bakhtiary, Hassan; Montazerlotfelahi, Hadi; Abbaskhanian, Ali; Hosseini, Seyed Ahmad; Farshadmoghadam, Hossein; Hosseiny, Seyyed Mohammad Mahdi; Shariatmadari, Fakhreddin; Ziaadini, Bentolhoda; Babaei, Meisam; Tavasoli, Azita; Nikbakht, Sedighe; Momen, Aliakbar; Khajeh, Ali; Aminzadeh, Vahid; Mollamohammadi, Mohsen; Taghdiri, Mohammad Mehdi; Nasehi, Mohammad Mehdi; Memarian, Sara; Badv, Reza Shervin; Heidari, Morteza; Jafari, Narjes
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A Comprehensive Overview of NF1 Mutations in Iranian Patients
err2024-07-02
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PREAI
errSavad, Shahram; Modarressi, Mohammad-Hossein; Younesi, Sarang; Seifi-Alan, Mahnaz; Samadaian, Niusha; Masoomy, Mona; Dianatpour, Mehdi; Norouzi, Shima; Amidi, Saloomeh; Boroumand, Amirreza; Ashrafi, Mahmoud Reza; Ronagh, Alireza; Eslami, Maryam; Hashemnejad, Maryam; Nourian, Shahab; Mohammadi, Sanaz; Taheri Amin, Mohammad Mahdi; Heidari, Morteza; Seifi-Alan, Mahin; Shojaaldini Ardakani, Hossein; Aghamahdi, Fatemeh; Khalilian, Sheyda; Ghafouri-Fard, Soudeh
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A comparative study on prophylactic efficacy of cinnarizine and amitriptyline in childhood migraine: a randomized double-blind clinical trial
err2024-04-20
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errOlfat, Mehrnaz; Hosseinpour, Sareh; Masoumi, Safdar; Gogia Rastogi, Reena; Vance Hastriter, Eric; Lewis, Kara Stuart; Little, Robert; Karnik, Kavitha; Hickman, Carolyn; Heidari, Morteza; Shervin Badv, Reza; Mohammadi, Mahmoud; Zamani, Gholam Reza; Mohammadpour, Masoud; Ashrafi, Mahmoud Reza; Tavasoli, Ali Reza
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The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
err2024-04-03
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errMahdieh, Nejat; Heidari, Morteza; Rezaei, Zahra; Tavasoli, Ali Reza; Hosseinpour, Sareh; Rasulinejad, Maryam; Dehnavi, Ali Zare; Akbari, Masoud Ghahvechi; Badv, Reza Shervin; Vafaei, Elahe; Mohebbi, Ali; Mohammadi, Pouria; Hosseiny, Seyyed Mohammad Mahdi; Azizimalamiri, Reza; Nikkhah, Ali; Pourbakhtyaran, Elham; Rohani, Mohammad; Khanbanha, Narges; Nikbakht, Sedigheh; Movahedinia, Mojtaba; Karimi, Parviz; Ghabeli, Homa; Hosseini, Seyed Ahmad; Rashidi, Fatemeh Sadat; Garshasbi, Masoud; Kashani, Morteza Rezvani; Ghiasvand, Noor M.; Zuchner, Stephan; Synofzik, Matthis; Ashrafi, Mahmoud Reza
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Safety and efficacy of levetiracetam and carbamazepine monotherapy in the management of pediatric focal epilepsy: a randomized clinical trial
err2024-01-24
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PREAI
errMontazerlotfelahi, Hadi; Ketabforoush, Arsh Haj Haj Ebrahim; Tavakol, Marzieh; Ashrafi, Mahmoudreza; Dehghani, Mahdieh; Mostafavi, Keihan; Mardi, Shayan; Tajfirooz, Sanaz
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Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients (vol 18, 177, 2023)
err2023-07-17
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errDehnavi, Ali Zare; Bemanalizadeh, Maryam; Kahani, Seyyed Mohammad; Ashrafi, Mahmoud Reza; Rohani, Mohammad; Toosi, Mehran Beiraghi; Heidari, Morteza; Hosseinpour, Sareh; Amini, Behnam; Zokaei, Shaghayegh; Rezaei, Zahra; Aryan, Hajar; Amanat, Man; Vahidnezhad, Hassan; Mohammadi, Pouria; Garshasbi, Masoud; Tavasoli, Ali Reza
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Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
err2023-07-05
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errDehnavi, Ali Zare; Bemanalizadeh, Maryam; Kahani, Seyyed Mohammad; Ashrafi, Mahmoud Reza; Rohani, Mohammad; Toosi, Mehran Beiraghi; Heidari, Morteza; Hosseinpour, Sareh; Amini, Behnam; Zokaei, Shaghayegh; Rezaei, Zahra; Aryan, Hajar; Amanat, Man; Vahidnezhad, Hassan; Mohammadi, Pouria; Garshasbi, Masoud; Tavasoli, Ali Reza
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