All Stories

  1. MFSD8 gene mutations; evidence for phenotypic heterogeneity
  2. Sarcoglycanopathies in Iran
  3. Tremor-Dominant Pantothenate Kinase-associated Neurodegeneration
  4. Mutations in C19orf12 and intronic repeat expansions in C9orf72 not observed in Iranian Parkinson's disease patients
  5. Identification of novel TFG mutation in HMSN-P pedigree with variable clinical presentations.
  6. HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry
  7. Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients
  8. Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann–Pick disease type C
  9. Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients
  10. PANK2andC19orf12mutations are common causes of neurodegeneration with brain iron accumulation
  11. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4
  12. Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees
  13. Four Mutations (Three Novel, One Founder) inTACSTD2among Iranian GDLD Patients