Alejandro Leal

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

Alejandro Leal, Kathrin Huehne, Finn Bauer et al. · Neurogenetics · 2009 · 80 citations · Full text

Engineering, Pmp22 Rna Levels, Genetics +20

A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3

Alejandro Leal, Bernal Morera-Brenes, Gerardo Del Valle et al. · The American Journal of Human Genetics · 2001 · 78 citations · Full text

Mendelian Disorder, Cytogenetics, Genetic Disorder +8

A novel myosin heavy chain gene in human chromosome 19q13.3

Alejandro Leal, Sabine Endele, Corinna Stengel et al. · Gene · 2003 · 62 citations

Chromatin, Genetic Disorder, Medicine +9

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic <i>CNTNAP2</i> aberrations allow delineation of the mutational and phenotypic spectrum

Mateja Smogavec, Alison Cleall, Juliane Hoyer et al. · Journal of Medical Genetics · 2016 · 54 citations

Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair

Ilona Kalasová, Richard Hailstone, Janin Bublitz et al. · Nucleic Acids Research · 2020 · 45 citations · Full text

Dna Damage, Genetics, Molecular Biology +18