Showing results (41-50 of 63) with videos related to

Sort By:
Pageof 7
Journal of Neurogenetics|March 27, 2021
Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia familiesMahdieh Pashaei, Atefeh Davarzani, Reza Hajati, et al.
Muscle & Nerve|November 28, 2025
A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation DefectsMahtab Ramezani, Ali Asghar Okhovat, Yalda Nilipour, et al.
Journal of Molecular Neuroscience : MN|June 6, 2016
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic GroupMarzieh Mojbafan, Seyed Hassan Tonekaboni, Maryam Abiri, et al.
Clinical Case Reports|August 6, 2024
Core myopathy in two siblings with a biallelic variant in the CACNA1S gene-A case series studyTara Khoeini, Ariana Kariminejad, Yalda Nilipour, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
Genetics of GNE myopathy in the non-Jewish Persian populationAlireza Haghighi, Shahriar Nafissi, Abrar Qurashi, et al.
Molecular Genetics & Genomic Medicine|January 6, 2023
Bi-allelic loss of function variant in the NRCAM gene is associated with motor-predominant axonal polyneuropathy; the second reportZohreh Elahi, Mohamad Soveyzi, Shahriar Nafissi, et al.
Journal of Clinical Neuromuscular Disease|May 26, 2018
Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3Ferdos Nazari, Farnaz Sinaei, Yalda Nilipour, et al.
Neuromuscular Disorders : NMD|July 2, 2023
Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patientsFariba Zemorshidi, Shahriar Nafissi, Reza Boostani, et al.
Clinical Case Reports|December 11, 2025
Drooling as a Red Flag: Insights From a Case Series in Severe Dermatomyositis With Literature ReviewAlireza Mirzamohamadi, Shokufe Sadeghi, Yalda Nilipour, et al.
Journal of Neurogenetics|June 9, 2016
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mappingMarzieh Mojbafan, Yalda Nilipour, Seyed Hasan Tonekaboni, et al.
Pageof 7