Laura González

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé et al. · The American Journal of Human Genetics · 2010 · 161 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Johann Böhm, Valérie Biancalana, Edoardo Malfatti et al. · Brain · 2014 · 103 citations

Medicine, Genetics, Molecular Genetics +16

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Montse Olivé, Zagaa Odgerel, Amaia Martínez et al. · Neuromuscular Disorders · 2011 · 96 citations · Full text

Medicine, Pathobiology, Pathology +16

Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study

Juan F. Vázquez‐Costa, Mónica Povedano, Andrés E. Nascimiento‐Osorio et al. · European Journal of Neurology · 2022 · 68 citations · Full text

Medicine, Neurology, Rehabilitation Medicine +17

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Montse Olivé, Judith Armstrong, Francesc Miralles et al. · Neuromuscular Disorders · 2007 · 65 citations · Full text

Life Sciences, Genetics, Pathology +13