Susana Carmona

<i>SVEP1</i> as a Genetic Modifier of <i>TEK</i>-Related Primary Congenital Glaucoma

Terri L. Young, Kristina N. Whisenhunt, Jing Jin et al. · Investigative Ophthalmology & Visual Science · 2020 · 56 citations · Full text

Medicine, Genetics, Ophthalmology +17

KCNN2 mutation in autosomal‐dominant tremulous myoclonus‐dystonia

Bettina Balint, Rita Guerreiro, Susana Carmona et al. · European Journal of Neurology · 2020 · 45 citations · Full text

Life Sciences, Genetics, Neurology +17

Heritability and genetic variance of dementia with Lewy bodies

Rita Guerreiro, Valentina Escott‐Price, Dena Hernandez et al. · Neurobiology of Disease · 2019 · 44 citations · Full text

Life Sciences, Genetics, Neurology +13

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

Christina Sundal, Susana Carmona, Maria Yhr et al. · Acta Neuropathologica Communications · 2019 · 31 citations · Full text

Life Sciences, Neurology, Neuroscience +13

Genetic Variants in ICAM1, PPARGC1A and MTHFR Are Potentially Associated with Different Phenotypes of Diabetic Retinopathy

Maria José Simões, Conceição Lobo, Conceição Egas et al. · Ophthalmologica · 2014 · 27 citations

Life Sciences, Genetics, Molecular Genetics +17