Concepción Hernández-Chico

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

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text

Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of^cBCD541 and SMA Phenotype

Eladio A. Velasco, Carmen Valero, Ana Valero et al. · Human Molecular Genetics · 1996 · 190 citations

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Laura Alías, Sara Bernal, Pablo Fuentes‐Prior et al. · Human Genetics · 2008 · 163 citations

Somatic Variant, Mendelian Disorder, Genetic Disorder +9

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

M. Carmen Valero, Yolanda Martín, Elisabete Hernández-Imaz et al. · Journal of Molecular Diagnostics · 2011 · 117 citations · Full text

Detect Nf1 Mutations, Genetic Analysis, Genetic Testing +6