Jorge Sequeiros
Universidade do Porto(PT)i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto(PT)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, DNA Repair Mechanisms, BRCA gene mutations in cancer, Amyloidosis: Diagnosis, Treatment, Outcomes
Most-Cited Works
- → Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2(2004)518 cited
- → The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin(2001)433 cited
- → CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion(2012)386 cited
- → Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients(2009)243 cited
- → Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)‐type I in Póvoa do Varzim and Vila do Conde (north of Portugal)(1995)237 cited
- Epidemiology and clinical aspects of Machado-Joseph disease.(1993)
- → Frataxin knockin mouse(2002)