Mariana Alves

Role for Sit4p‐dependent mitochondrial dysfunction in mediating the shortened chronological lifespan and oxidative stress sensitivity of Isc1p‐deficient cells

António Daniel Barbosa, Hugo Osório, Kellie J. Sims et al. · Molecular Microbiology · 2011 · 49 citations · Full text

CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype

Carlos Bessa, Carla Andreia Teixeira, Ana Cristi Basile Dias et al. · Molecular Genetics and Metabolism · 2007 · 33 citations

Engineering, Genetic Disorder, Medicine +11

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

Mariana Alves, Emmanuelle Le Trionnaire, Isaura Ribeiro et al. · Molecular Genetics and Metabolism · 2013 · 30 citations

Acid Ceramidase Deficiency, Genetic Disorder, Genetics +9

Neurophysiological evaluation of sexual dysfunction in familial amyloidotic polyneuropathy - Portuguese type

Mariana Alves, Isabel Conceição, M L Luís · Acta Neurologica Scandinavica · 2009 · 23 citations

Erectile Dysfunction, Neurological Disorder, Peripheral Nerves +23

Fluorescent Light‐up Probe for the Detection of Protein Aggregates

Raquel Nunes da Silva, Catarina Costa, Maria J. G. Santos et al. · Chemistry - An Asian Journal · 2019 · 14 citations · Full text

Fluorescence Microscopy, Biochemistry, Molecular Biological Method +12