A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

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Fevga C., Park Y., Lohmann E., Kievit A. J., Breedveld G. J., Ferraro F., ...Daha Fazla

Parkinsonism & related disorders, cilt.89, ss.63-72, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 89
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.parkreldis.2021.06.023
  • Dergi Adı: Parkinsonism & related disorders
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.63-72
  • Anahtar Kelimeler: SNCA, alpha-syn, Variant, Thr72Met, Phenotype, Late-onset, Parkinsonism, FRONTOTEMPORAL DEMENTIA, GENE DUPLICATION, MUTATION, PHENOTYPE, SNCA, LRSAM1, RISK
  • İstanbul Üniversitesi Adresli: Evet

Özet

Introduction: Missense variants and multiplications of the alpha-synuclein gene (SNCA) are established as rare causes of autosomal dominant forms of Parkinson's Disease (PD).