The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders S Carmona, K Zahs, E Wu, K Dakin, J Bras, R Guerreiro The Lancet Neurology 17 (8), 721-730, 2018 | 222 | 2018 |
The genetic landscape of Alzheimer disease S Carmona, J Hardy, R Guerreiro Handbook of clinical neurology 148, 395-408, 2018 | 123 | 2018 |
Heritability and genetic variance of dementia with Lewy bodies R Guerreiro, V Escott-Price, D Hernandez, C Kun-Rodrigues, O Ross, ... bioRxiv, 454249, 2018 | 33 | 2018 |
Genetic variants in ICAM1, PPARGC1A and MTHFR are potentially associated with different phenotypes of diabetic retinopathy MJ Simões, C Lobo, C Egas, S Nunes, S Carmona, MÂ Costa, T Duarte, ... Ophthalmologica 232 (3), 156-162, 2014 | 29 | 2014 |
A comprehensive screening of copy-number variability in dementia with Lewy bodies C Kun-Rodrigues, T Orme, S Carmona, DG Hernandez, OA Ross, ... Neurobiology of Aging, 2018 | 19 | 2018 |
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort L Darwent, S Carmona, E Lohmann, G Guven, C Kun-Rodrigues, B Bilgic, ... Neurobiology of aging 58, 240. e1-240. e3, 2017 | 10 | 2017 |
Novel de novo FOXC1 nonsense mutation in an Axenfeld‐Rieger syndrome patient S Carmona, M da Luz Freitas, H Froufe, MJ Simões, MJ Sampaio, ... American Journal of Medical Genetics Part A 173 (6), 1607-1610, 2017 | 8 | 2017 |
AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria S Carmona, C Marecos, M Amorim, AC Ferreira, C Conceição, J Brás, ... Neurology Genetics 4 (5), e273, 2018 | 6 | 2018 |
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients MJ Simões, S Carmona, R Roberts, G Wainwright, C Faro, E Silva, ... Ophthalmic genetics 38 (2), 197-199, 2017 | 2 | 2017 |
Revisiting the genetics of APOE S Carmona, C Kun-Rodrigues, J Brás, R Guerreiro Sinapse 17 (2), 27-36, 2017 | 1 | 2017 |
STOP-GAIN VARIANT IN MICROGLIA-EXPRESSED GENE GMIP IS ASSOCIATED WITH EARLY-ONSET ALZHEIMER’S DISEASE RR Khan, A Altmann, V Napolioni, Y Kim, R Guerreiro, JT Bras, ... Alzheimer's & Dementia: The Journal of the Alzheimer's Association 14 (7 …, 2018 | | 2018 |
Spastic paraplegia 52-a new AP4S1 variant? C Marecos, M Amorim, AC Ferreira, C Conceicao, S Carmona, ... EUROPEAN JOURNAL OF NEUROLOGY 25, 549-549, 2018 | | 2018 |
GENETIC CHARACTERIZATION OF A TURKISH DEMENTIA COHORT: FOCUS ON TYROBP S Carmona, G Guven, E Lohmann, A Singleton, J Hardy, JT Bras, ... Alzheimer's & Dementia: The Journal of the Alzheimer's Association 13 (7 …, 2017 | | 2017 |
Identification of candidate genes associated with primary congenital glaucoma in patients negative for CYP1B1 mutations SMM Carmona Universidade de Coimbra, 2017 | | 2017 |
Identification of DLEC1 D215N somatic mutation in formalin fixed paraffin embedded melanoma and melanocytic nevi specimens R Vieira, MJ Simões, S Carmona, C Egas, C Faro, A Figueiredo Journal of skin cancer 2013, 2013 | | 2013 |