مقالات منتشر شدۀ مرکز تحقیقات نوروماسکولار ( برای مطالعه و دریافت فایل روی عنوان هر مقاله کلیک نمایید )

 

 

 Identifying novel AGRN variants in congenital myasthenic syndrome: insights from three Iranian families

 

 Beginning at the ends: telomere and telomere-based cancer therapeutics

 

 CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights

 

 Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome

 

 Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review

 

 COLQ-Congenital myasthenic syndrome  in an Iranian cohort: the clinical and genetics spectrum

 

 Mutation spectrum and clinical features of MYORG in Iranian patients with Primary  Familial Brain Calcification (PFBC)

 

 GDAP1-Related Charcot–Marie–Tooth Disease: Axonal or  Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?

 

 Description of Phenotypic Heterogeneity  in a GJC2-Related Family and Literature Review

 

 JAM2 variants can be more common in primary familial brain  calcification (PFBC) cases than those appear; may be due to a founder mutation

 

 Phenotypic and genotyping spectrum of two Iranian  cases with RBCK1-associated polyglucosan body myopathy

 

 A Novel Homozygous Variant in the MCOLN1 Gene Associated With  Severe Oromandibular Dystonia and Parkinsonism

 

 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

 

 Three Iranian patients with rare subtypes of hereditary spastic  paraplegia (HSP): SPG76, SPG56, and SPG69