PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

समान संसाधन

• SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein
  द्वारा: Nanetti, Lorenzo, और अन्य
  प्रकाशित: (2013)
• Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages
  द्वारा: Nigri, Anna, और अन्य
  प्रकाशित: (2020)
• Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia
  द्वारा: Rota, Silvia, और अन्य
  प्रकाशित: (2014)
• Somatosensory Conduction Pathway in Spastic Paraplegia Type 5
  द्वारा: Vanotti, Alessandra, और अन्य
  प्रकाशित: (2014)
• Late-onset Huntington’s disease with 40–42 CAG expansion
  द्वारा: Capiluppi, Elisa, और अन्य
  प्रकाशित: (2019)