COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Hesami, Omid, Ramezani, Mahtab, Ghasemi, Aida, Fatehi, Farzad, Okhovat, Ali Asghar, Ziaadini, Bentolhoda, Kariminejad, Ariana, Nafissi, Shahriar
Published in Orphanet journal of rare diseases (12.03.2024)
Published in Orphanet journal of rare diseases (12.03.2024)
Get full text
Journal Article
The second family affected with a PRDM8-related disease
Davarzani, Atefeh, Shahrokhi, Amin, Hashemi, Seyyed Saleh, Ghasemi, Aida, Habibi Kavashkohei, Mohammad Reza, Farboodi, Niloofar, Lang, Anthony E., Ghiasi, Maryam, Rohani, Mohammad, Alavi, Afagh
Published in Neurological sciences (01.06.2022)
Published in Neurological sciences (01.06.2022)
Get full text
Journal Article
CHRNE-related Congenital Myasthenic Syndrome in Iran: Clinical and Molecular Insights
Karimi, Narges, Ghasemi, Aida, Panahi, Akram, Ziaadini, Bentolhoda, Nafissi, Shahriar
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants
Sadr, Zahra, Ghasemi, Aida, Rohani, Mohammad, Alavi, Afagh
Published in Neuromuscular disorders : NMD (01.04.2023)
Published in Neuromuscular disorders : NMD (01.04.2023)
Get full text
Journal Article
Corrigendum to “NMNAT1 and hereditary spastic paraplegia (HSP): Expanding the phenotypic spectrum of NMNAT1 variants” [Neuromuscular Disorders, 33(2023) 295-301]
Sadr, Zahra, Ghasemi, Aida, Rohani, Mohammad, Alavi, Afagh
Published in Neuromuscular disorders : NMD (01.02.2024)
Published in Neuromuscular disorders : NMD (01.02.2024)
Get full text
Journal Article
JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation
Khojasteh, Mana, Soleimani, Parsa, Ghasemi, Aida, Taghizadeh, Peyman, Rohani, Mohammad, Alavi, Afagh
Published in Neurological sciences (01.08.2024)
Published in Neurological sciences (01.08.2024)
Get full text
Journal Article
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review
Ghasemi, Aida, Sadr, Zahra, Babanejad, Mojgan, Rohani, Mohammad, Alavi, Afagh
Published in Molecular syndromology (01.12.2023)
Published in Molecular syndromology (01.12.2023)
Get full text
Journal Article
Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy
Babaee, Marzieh, Nilipour, Yalda, Alijanpour, Sahar, Ghasemi, Aida, Taghdiri, Mohammad Mehdi, Sarraf, Payam, Miryounesi, Mohammad, Ramezani, Mahtab
Published in Neuropathology (23.06.2024)
Published in Neuropathology (23.06.2024)
Get full text
Journal Article
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review
Ghasemi, Aida, Tavasoli, Ali Reza, Khojasteh, Mana, Rohani, Mohammad, Alavi, Afagh
Published in Molecular syndromology (01.10.2023)
Published in Molecular syndromology (01.10.2023)
Get full text
Journal Article
A novel homozygous variant in the MCOLN1 gene associated with severe oromandibular dystonia and Parkinsonism
Ghasemi, Aida, Eslami Ardakani, Mahdieh, Togha, Mansoureh, Yazdi, Narges, Lang, Anthony E, Amini, Elahe, Rohani, Mohammad, Alavi, Afagh
Published in Canadian journal of neurological sciences (27.03.2024)
Published in Canadian journal of neurological sciences (27.03.2024)
Get more information
Journal Article