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Molecular Genetics & Genomic Medicine|July 5, 2024
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote casesMohammad Reza Seyedtaghia, Reza Jafarzadeh-Esfehani, Seyedmojtaba Hosseini, et al.International Medical Case Reports Journal|June 20, 2019
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from IranReza Shervin Badv, Yalda Nilipour, Shahram Rahimi-Dehgolan, et al.BMC Medical Genetics|April 16, 2020
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case reportMarzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, et al.Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences|November 26, 2014
A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathyMahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, et al.Neuromuscular Disorders : NMD|December 14, 2020
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patientsAli Asghar Okhovat, Yalda Nilipour, Reza Boostani, et al.European Journal of Human Genetics : EJHG|July 17, 2023
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variantsAlireza Haghighi, Zahra Alvandi, Yalda Nilipour, et al.Journal of the Neurological Sciences|February 3, 2020
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in IranYalda Nilipour, Farzad Fatehi, Saleheh Sanatinia, et al.Molecular and Cellular Pediatrics|May 10, 2021
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous familyFatemeh Bitarafan, Mehrnoosh Khodaeian, Elham Amjadi Sardehaei, et al.Iranian Journal of Child Neurology|September 25, 2015
Tumors of the Central Nervous System: An 18-Year Retrospective Review in a Tertiary Pediatric Referral CenterHosein Aghayan Golkashani, Hossein Hatami, Abdonaser Farzan, et al.Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|March 31, 2025
Surgical management of a giant glial hamartoma in a pediatric patient: a case reportGuive Sharifi, Elham Paraandavaji, Shahin Naghizadeh, et al.Pageof 7