H. Luque

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio et al. · Nature Genetics · 2012 · 272 citations

Genome Instability, Skeletal Muscle, Genetics +7

Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1

Peter Hackman, J. Sarparanta, Sara Lehtinen et al. · Annals of Neurology · 2012 · 152 citations

<i>MYH7</i> gene tail mutation causing myopathic profiles beyond Laing distal myopathy

Nuria Muelas, Peter Hackman, H. Luque et al. · Neurology · 2010 · 104 citations

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marco Savarese, Lorenzo Maggi, Anna Vihola et al. · JAMA Neurology · 2018 · 91 citations · Full text

Genotype–phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates et al. · Genetics in Medicine · 2020 · 74 citations · Full text

Genotype-phenotype Association, Genetics, Genotype–phenotype Correlations +3