4 documents found, page 1 of 1
A comprehensive screening of copy number variability in dementia with Lewy bodies
Kun-Rodrigues, C; Orme, T; Carmona, S; Hernandez, DG; Ross, OA; Eicher, JD; Shepherd, C; Parkkinen, L; Darwent, L; Heckman, MG; Scholz, SW; Troncoso, JCThe role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previou...
AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymic...
Carmona, S; Marecos, C; Amorim, M; Ferreira, AC; Conceição, C; Brás, J; Duarte, ST; Guerreiro, RHereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous clinical presentation. An extensive list of associated genes, different inheritance patterns, and ages at onset have...
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient
Carmona, S; da Luz Freitas, MG; Froufe, H; Simões, MJ; Sampaio, MJ; Silva, ED; Egas, C
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient
Carmona, S; da Luz Freitas, M; Froufe, H; Simões, MJ; Sampaio, MJ; Silva, ED; Egas, C