关注
Susana Carmona
Susana Carmona
Research Assistant, UCL
在 ucl.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
2222018
The genetic landscape of Alzheimer disease
S Carmona, J Hardy, R Guerreiro
Handbook of clinical neurology 148, 395-408, 2018
1232018
Heritability and genetic variance of dementia with Lewy bodies
R Guerreiro, V Escott-Price, D Hernandez, C Kun-Rodrigues, O Ross, ...
bioRxiv, 454249, 2018
332018
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
292014
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
192018
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
102017
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
82017
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
62018
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
22017
Revisiting the genetics of APOE
S Carmona, C Kun-Rodrigues, J Brás, R Guerreiro
Sinapse 17 (2), 27-36, 2017
12017
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
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