Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

פריטים דומים

• SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia (HSP)
  מאת: Paisan-Ruiz, Coro, et al.
  יצא לאור: (2008)
• Clinical Heterogeneity and Genotype Phenotype correlations in Hereditary Spastic Paraplegia (HSP) due to Spatacsin mutations (SPG11)
  מאת: Paisan-Ruiz, Coro, et al.
  יצא לאור: (2008)
• Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum
  מאת: Aleem, Alice Abdel, et al.
  יצא לאור: (2010)
• SPG20 mutation in three siblings with familial hereditary spastic paraplegia
  מאת: Dardour, Leila, et al.
  יצא לאור: (2017)
• Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
  מאת: Álvarez, Victoria, et al.
  יצא לאור: (2010)