Núria Setó‐Salvia

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

Núria Setó‐Salvia, Javier Pagonabarraga, Henry Houlden et al. · Movement Disorders · 2011 · 154 citations

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT

Teresa Sposito, Elisavet Preza, Colin Mahoney et al. · Human Molecular Genetics · 2015 · 154 citations · Full text

Dementia Risk in Parkinson Disease

Núria Setó‐Salvia, Jordi Clarimón, Javier Pagonabarraga et al. · Archives of Neurology · 2011 · 144 citations · Full text

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Anna Thomas, Hywel Williams, Núria Setó‐Salvia et al. · The American Journal of Human Genetics · 2014 · 100 citations · Full text

Impact of rare variants in <i><scp>ARHGAP29</scp></i> to the etiology of oral clefts: role of loss‐of‐function <i>vs</i> missense variants

Clarice Pagani Savastano, Luciano Abreu Brito, Á.C. Faria et al. · Clinical Genetics · 2016 · 35 citations

Genetic Testing, Genetics, Genetic Epidemiology +17