Raquel Vaz

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Fibronectin promotes migration, alignment and fusion in an in vitro myoblast cell model

Raquel Vaz, Gabriel G. Martins, Sólveig Þorsteinsdóttir et al. · Cell and Tissue Research · 2012 · 87 citations

Life Sciences, Cell Biology, Molecular Biology +12

Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency

Avnika A. Ruparelia, Viola Oorschot, Raquel Vaz et al. · Acta Neuropathologica · 2014 · 79 citations · Full text

Natural Resources, Genetics, Molecular Genetics +12

De novo mutations in <i>FLNC</i> leading to early-onset restrictive cardiomyopathy and congenital myopathy

Artem Kiselev, Raquel Vaz, Anastasia Knyazeva et al. · Human Mutation · 2018 · 69 citations

Medicine, Genetics, Molecular Genetics +13

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Anna Hammarsjö, Z. Wang, Raquel Vaz et al. · Scientific Reports · 2017 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17