Maite Calucho

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías et al. · Neuromuscular Disorders · 2018 · 486 citations

Sma Type, Clinical Epidemiology, Genetic Epidemiology +5

Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy

Ivon Cuscó, Sara Bernal, Laura Campello Blasco et al. · Neurology Genetics · 2020 · 56 citations · Full text

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

Laura Alías, Sara Bernal, Maite Calucho et al. · European Journal of Human Genetics · 2018 · 36 citations · Full text

Engineering, Genetic Disorder, Medicine +9

Expression of Bone Morphogenetic Proteins in Multiple Sclerosis Lesions

Carme Costa, Herena Eixarch, Elena Martínez‐Sáez et al. · American Journal Of Pathology · 2018 · 27 citations · Full text

The effect of premature termination codon mutations on <i>CFTR</i> mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis

Luka A. Clarke, Nikhil T Awatade, Verónica Felício et al. · Human Mutation · 2018 · 21 citations · Full text

Cftr Mrna Abundance, Inflammatory Lung Disease, Genetics +19