Alberto L. Rosa

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

Valeria Kowaljow, Aline Marcowycz, Eugénie Ansseau et al. · Neuromuscular Disorders · 2007 · 324 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Giovanni Stévanin, Hamid Azzedine, Paola S. Denora et al. · Brain · 2007 · 253 citations

Life Sciences, Genetics, Neurology +17

<i>Arabidopsis</i> Displays Centromeric DNA Hypomethylation and Cytological Alterations of Heterochromatin Upon Attack by <i>Pseudomonas syringae</i>

Valeria Pavet, Cristián Andrés Quintero, Nicolás M. Cecchini et al. · Molecular Plant-Microbe Interactions · 2006 · 188 citations · Full text

Life Sciences, Genetics, Plant Biology +17

Clinical features of facioscapulohumeral muscular dystrophy 2

Jessica C. de Greef, Richard J.L.F. Lemmers, Pilar Camaño et al. · Neurology · 2010 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

Mathilde Varret, Jean‐Pierre Rabès, Bruno Saint-Jore et al. · The American Journal of Human Genetics · 1999 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9