Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review

Authors: Mansouri, Vahid, Tavasoli, Ali Reza, Khodarahmi, Masoud, Dakkali, Mohammad Sedigh, Daneshfar, Sara, Ashrafi, Mahmoud Reza, Heidari, Morteza, Hosseinpour, Sareh, Sharifianjazi, Fariborz, Bemanalizadeh, Maryam

Source: European journal of neurology. 30(9):2919-2945

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GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant

Authors: Heshmatzad, Katayoun, Haghi Panah, Mahya, Tavasoli, Ali Reza, Ashrafi, Mahmoud Reza, Mahdieh, Nejat, Rabbani, Bahareh

Source: In Clinical Neurology and Neurosurgery August 2021 207

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

Authors: Hosseini Bereshneh, Ali, Rezaei, Zahra, Jafarinia, Ehsan, Rajabi, Fatemeh, Ashrafi, Mahmoud Reza, Tavasoli, Ali Reza, Garshasbi, Masoud

Source: In Mitochondrion July 2021 59:1-7

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.

Authors: Siavashani, Elham Salehi^1,2 (AUTHOR), Ashrafi, Mahmoud Reza³ (AUTHOR), Ghabeli, Homa⁴ (AUTHOR), Heidari, Morteza^3,4 (AUTHOR) mortezah93@gmail.com, Garshasbi, Masoud⁵ (AUTHOR) masoud.garshasbi@modares.ac.ir

Source: BMC Medical Genomics. 9/26/2023, Vol. 16 Issue 1, p1-6. 6p.

Subject Terms: *CEREBELLAR ataxia, *GENETIC variation, *CEREBELLUM degeneration, *FRAMESHIFT mutation, *FLATFOOT, *DELETION mutation

Geographic Terms: PAKISTAN, IRAN

An overview of early-onset cerebellar ataxia: a practical guideline.

Authors: Hosseinpour, Sareh, Bemanalizadeh, Maryam, Mohammadi, Pouria, Ashrafi, Mahmoud Reza, Heidari, Morteza

Source: Acta Neurologica Belgica; Dec2024, Vol. 124 Issue 6, p1791-1804, 14p

Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant.

Authors: Mohammadi, Mohammad Farid, Tehrani Fateh, Sahand, Ganji, Maedeh, Mohammadi, Pouria, Bahrami, Tayyeb, Ashrafi, Mahmoud Reza, Hosseinpour, Sareh, Heidari, Morteza, Garshasbi, Masoud, Tavasoli, Ali Reza

Source: Acta Neurologica Belgica; Dec2024, Vol. 124 Issue 6, p1959-1972, 14p

Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data.

Authors: Ashrafi, Mahmoud Reza, Babaee, Marzieh, Hashemi Nazari, Seyed Saeed, Barzegar, Mohammad, Ghazavi, Mohammadreza, Beiraghi Toosi, Mehran, Nafissi, Shahriar, 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

Source: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 6, p1190-1199, 10p

Effectiveness of Electronic Learning Courses on Neurologist Knowledge of Epilepsy Classification: A Study Based on the Kirkpatrick Model.

Authors: Mirmoghtadaie, Zohrehsadat, Mohammadi, Mahmoud, Tavasoli, Ali Reza, Badv, Reza Shervin, Ashrafi, Mahmoud Reza, Zamani, Gholam Reza, Hosseinpour, Sareh, Omrani, Abdolmajid

Source: Jundishapur Journal of Chronic Disease Care (JJCDC); Oct2024, Vol. 13 Issue 4, p1-8, 8p

Exploring the Phenotypic Profile of Acute Flaccid Paralysis: Insights from a Third-Level Pediatric Emergency Room.

Authors: Hosseinpour, Sareh, Pazouki, Roxana, Ashrafi, Mahmoud Reza, Bemanalizadeh, Maryam, Akbari, Masood Ghahvechi, Rezaei, Sanaz, Parvaneh, Nima, Heidari, Morteza, Vafaee-Shahi, Mohammad, Hosseini, Firouzeh, Bagheri, Sayna, Tavasoli, Ali Reza

Source: Iranian Journal of Child Neurology; Autumn2024, Vol. 18 Issue 4, p33-45, 13p

Subject Terms: COMPLICATIONS from polio, CEREBROSPINAL fluid examination, VIRAL meningitis, CROSS-sectional method, ACUTE flaccid paralysis, DIAGNOSTIC imaging, MYOSITIS, HOSPITAL emergency services, RETROSPECTIVE studies, GUILLAIN-Barre syndrome, FEVER, PEDIATRICS, MUSCLE weakness, TRANSVERSE myelitis, CASE studies, PHENOTYPES, ELECTROPHYSIOLOGY, DISEASE complications, CHILDREN

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Authors: Ashrafi, Mahmoud Reza, Dehnavi, Ali Zare, Tavasoli, Ali Reza, Heidari, Morteza, Ghahvechi Akbari, Masoud, Ronagh, Ali Reza, Ghafouri, Mohammad, Mahdieh, Nejat, Mohammadi, Pouria, Rezaei, Zahra

Source: Molecular genetics & genomic medicine. 11(6)

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Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum

Authors: Kameli, Reyhaneh, Ashrafi, Mahmoud Reza, Ehya, Farveh, Alizadeh, Houman, Hosseinpour, Sareh, Garshasbi, Masoud, Tavasoli, Ali Reza

Source: In European Journal of Medical Genetics January 2020 63(1)

A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients.

Authors: Savad, Shahram¹ (AUTHOR) Shahram.savad@yahoo.com, Ashrafi, Mahmoud Reza^2,3 (AUTHOR), Samadaian, Niusha¹ (AUTHOR), Heidari, Morteza^2,4 (AUTHOR), Modarressi, Mohammad-Hossein⁵ (AUTHOR), Zamani, Gholamreza⁴ (AUTHOR), Amidi, Saloomeh¹ (AUTHOR), Younesi, Sarang⁶ (AUTHOR), Amin, Mohammad Mahdi Taheri⁶ (AUTHOR), Saadati, Pourandokht⁶ (AUTHOR), Ronagh, Alireza⁷ (AUTHOR), Ardakani, Hossein Shojaaldini⁸ (AUTHOR), Eslami, Solat^9,10 (AUTHOR), Ghafouri-Fard, Soudeh¹¹ (AUTHOR) s.ghafourifard@sbmu.ac.ir

Source: Scientific Reports. 2/24/2023, Vol. 13 Issue 1, p1-11. 11p.

Subject Terms: *IRANIANS, *SPINAL muscular atrophy, *GENETIC counseling, *ETHNIC groups

Geographic Terms: KARAJ (Iran), TEHRAN (Iran)

Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population

Authors: Ashrafi, Mahmoud Reza, Mohammadalipoor, Ariadokht, Naeini, Alireza Ranjbar, Amanat, Man, Tavasoli, Ali Reza, Heidari, Morteza, Badv, Reza Shervin, Mohammadi, Mahmoud, Zamani, Gholam Reza, Rahimi-Dehgolan, Shahram

Source: Journal of child neurology. 35(7):448-455

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN623505635&indx=1&recIds=ETOCRN623505635

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

Authors: Ashrafi, Mahmoud Reza, Amanat, Man, Garshasbi, Masoud, Kameli, Reyhaneh, Nilipour, Yalda, Heidari, Morteza, Rezaei, Zahra, Tavasoli, Ali Reza

Source: Expert review of neurotherapeutics. 20(1):65-84

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Leukoencephalopathy in Al‐Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS

Authors: Masoudi, Maryam, Bereshneh, Ali Hosseini, Rasoulinezhad, Maryam, Ashrafi, Mahmoud Reza, Garshasbi, Masoud, Tavasoli, Ali Reza

Source: American journal of medical genetics.Part A. 182(10):2391-2398

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The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations

Authors: Zamani, Gholamreza, Hosseini Bereshneh, Ali, Azizi Malamiri, Reza, Bagheri, Sayna, Moradi, Kamyar, Ashrafi, Mahmoud Reza, Tavasoli, Ali Reza, Mohammadi, Mahmoud, Badv, Reza Shervin, Ghahvechi Akbari, Masood, Heidari, Morteza

Source: Journal of molecular neuroscience. 70(10):1565-1573

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172109511.0x000001&indx=1&recIds=ETOCvdc_100172109511.0x000001

A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Authors: Savad, 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

Source: NeuroMolecular Medicine; 7/2/2024, Vol. 26 Issue 1, p1-14, 14p

Childhood Guillain–Barre syndrome in the SARS‐CoV‐2 era: Is there any causative relation?

Authors: Pourbakhtyaran, Elham, Heidari, Morteza, Akbari, Masood Ghahvechi, Mohammadi, Mahmoud, Badv, Reza Shervin, Zamani, Gholamreza, Tavasoli, Ali Reza, Rezaei, Zahra, Mamishi, Setareh, Haji Esmaeil Memar, Elmira, Hosseiny, Seyyed Mohammad Mahdi, Ghabeli, Homa, Haghighi, Roya, Ashrafi, Mahmoud Reza

Source: Clinical case reports. 10(12)

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Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study

Authors: Ashrafi, Mahmoud Reza, Pourbakhtyaran, Elham, Rohani, Mohammad, Shalbafan, Bita, Tavasoli, Ali Reza, Hosseinpour, Sareh, Rasulinezhad, Maryam, Rezaei, Zahra, Zare Dehnavi, Ali, Hosseiny, Seyyed Mohammad Mahdi, Haghighi, Roya, Ghabeli, Homa, Heidari, Morteza

Source: Clinical case reports. 10(4)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152427163.0x000001&indx=1&recIds=ETOCvdc_100152427163.0x000001

Methenyltetrahydrofolate synthease deficiency (MTHFS deficiency): Novel mutation and brain MRI findings: A case report and glance to other cases

Authors: Vafaee-Shahi, Mohammad, Amirkashani, Davoud, Ashrafi, Mahmoud Reza, Tahernia, Leila, Riahi, Aina

Source: Clinical neurology and neurosurgery. 215

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