Titre:
  • Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.
Auteur:Perez-Rodriguez, Diego; Kalyva, Maria; Leija-Salazar, Melissa; Lashley, Tammaryn; Tarabichi, Maxime; Chelban, Viorica; Gentleman, Steve; Schottlaender, Lucia; Franklin, Hannah; Vasmatzis, George; Houlden, Henry; Schapira, Anthony HV; Warner, Thomas T; Holton, Janice L; Jaunmuktane, Zane; Proukakis, Christos
Informations sur la publication:Acta neuropathologica communications, 7, 1, page (219)
Statut de publication:Publié, 2019-02-01
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Alpha-synuclein
Mosaicism
Multiple system atrophy
Parkinson’s disease
SNCA
Single cell sequencing
Somatic mutation
MeSH keywords:Brain -- metabolism
DNA Copy Number Variations
Gyrus Cinguli -- metabolism
Humans
Male
Multiple System Atrophy -- genetics
Neurons -- metabolism
Parkinson Disease -- genetics
Single-Cell Analysis
alpha-Synuclein -- genetics
Langue:Anglais
Identificateurs:urn:issn:2051-5960
info:doi/10.1186/s40478-019-0873-5
info:pii/10.1186/s40478-019-0873-5
info:pmid/31870437
PMC6929293