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 · 157 citations · Full text

Genetic Disorder, Genetics, Pathology +5

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Johann Böhm, Valérie Biancalana, Edoardo Malfatti et al. · Brain · 2014 · 99 citations

Mitochondrial Myopathy, Chromatin, Developmental Anomaly +13

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

Late-onset Subtypes, Pathology, Myopathological Evaluation +3

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

Montse Olivé, Judith Armstrong, Francesc Miralles et al. · Neuromuscular Disorders · 2007 · 64 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

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 · 63 citations · Full text