Publications by authors named "Aida Ghasemi"

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A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects.
Mahtab Ramezani, Ali Asghar Okhovat, Yalda Nilipour, Aida Ghasemi, Bahram Haghi Ashtiani

Muscle Nerve· November 2025

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GDAP1-Related Charcot-Marie-Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?
Moez Ravanbod, Mahsa Mohammadi, Aida Ghasemi, Solmaz Jabbarzadeh, Ali Asghar Okhovat

J Peripher Nerv Syst· September 2025

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Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).
Parsa Soleimani, Mana Khojasteh, Aida Ghasemi, Ali Heshmati, Mohammad Rohani

Neurol Sci· July 2025

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Identifying novel AGRN variants in congenital myasthenic syndrome: insights from three Iranian families.
Hadi Gharebaghian, Aida Ghasemi, Omid Hesami, Shahriar Nafissi

Neuromuscul Disord· April 2025

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Genetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review.
Mahsa Mohammadi, Moez Ravanbod, Aida Ghasemi, Hadi Gharebaghian, Shahriar Nafissi

Pediatr Neurol· March 2025

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Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.
Marzieh Babaee, Yalda Nilipour, Sahar Alijanpour, Aida Ghasemi, Mohammad Mehdi Taghdiri

Neuropathology· February 2025

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A Novel Homozygous Variant in the Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.
Aida Ghasemi, Mahdieh Eslami Ardakani, Mansoureh Togha, Narges Yazdi, Anthony E Lang

Can J Neurol Sci· January 2025

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CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights.
Narges Karimi, Aida Ghasemi, Akram Panahi, Bentolhoda Ziaadini, Shahriar Nafissi

Neuromuscul Disord· January 2025

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Beginning at the ends: telomere and telomere-based cancer therapeutics.
Zahra Sadr, Masoumeh Ghasemi, Soheyla Jafarpour, Reyhaneh Seyfi, Aida Ghasemi

Mol Genet Genomics· December 2024

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Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.
Aida Ghasemi, Seyed Jalaleddin Hadei, Sara KamaliZonouzi, Amene Shahrokhi, Hossein Najmabadi

Neurogenetics· November 2024

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Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.
Zahra Sadr, Aida Ghasemi, Mohammad Rohani, Hamid Reza Khorram Khorshid, Mohammad Reza Habibi-Kavashkohie

Neurogenetics· November 2024

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JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.
Mana Khojasteh, Parsa Soleimani, Aida Ghasemi, Peyman Taghizadeh, Mohammad Rohani

Neurol Sci· August 2024

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COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat

Orphanet J Rare Dis· March 2024

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Corrigendum to "NMNAT1 and hereditary spastic paraplegia (HSP): Expanding the phenotypic spectrum of NMNAT1 variants" [Neuromuscular Disorders, 33(2023) 295-301].
Zahra Sadr, Aida Ghasemi, Mohammad Rohani, Afagh Alavi

Neuromuscul Disord· February 2024

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The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
Narges Hashemi, Reza Nejad Shahrokh Abadi, Afagh Alavi, Mohammad Rohani, Aida Ghasemi

Neurol Sci· December 2023

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Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.
Aida Ghasemi, Zahra Sadr, Mojgan Babanejad, Mohammad Rohani, Afagh Alavi

Mol Syndromol· December 2023

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Description of Phenotypic Heterogeneity in a -Related Family and Literature Review.
Aida Ghasemi, Ali Reza Tavasoli, Mana Khojasteh, Mohammad Rohani, Afagh Alavi

Mol Syndromol· October 2023

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NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
Zahra Sadr, Aida Ghasemi, Mohammad Rohani, Afagh Alavi

Neuromuscul Disord· April 2023

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The second family affected with a PRDM8-related disease.
Atefeh Davarzani, Amin Shahrokhi, Seyyed Saleh Hashemi, Aida Ghasemi, Mohammad Reza Habibi Kavashkohei

Neurol Sci· June 2022

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