2 documents found, page 1 of 1
Ptosis in human immunodeficiency virus-infected patients under long-term antire...
Santos Silva, C; Nunes Vicente, B; Martins, B; Fonseca, AC; Coelho, P; Roque, R; Cota de Medeiros, F; Oliveira Santos, M; de Carvalho, MObjective: To present cases of ptosis in HIV-1 patients on long-term antiretroviral therapy (ART) and review the existing literature. Methods: Five HIV-1-positive patients with slowly progressive bilateral ptosis underwent a comprehensive diagnostic evaluation, including imaging studies, neurophysiological testing, muscle biopsy, and genetic analysis. A literature review was conducted. Results: On clinical exam...
Targeted Next-Generation Sequencing Study in Familial ALS-FTD Portuguese Patien...
Gromicho, M; Coutinho, AM; Pronto-Laborinho, AC; Raposeiro, R; Tavares, J; Antunes, D; de Carvalho, MAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia (FTD) are in part of a single disease continuum. Genetic causes have been identified in sporadic (SALS) and familial patients (FALS) and the recurrent genetic factor under...