Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Documenti analoghi

• Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
  di: Angebault, Claire, et al.
  Pubblicazione: (2015)
• A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY
  di: Meunier, Isabelle, et al.
  Pubblicazione: (2021)
• Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
  di: Roubertie, Agathe, et al.
  Pubblicazione: (2019)
• Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
  di: Charif, Majida, et al.
  Pubblicazione: (2021)
• Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing
  di: Bris, Céline, et al.
  Pubblicazione: (2018)