Alejandro Leal
Universidad de Costa Rica(CR)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, Neurological diseases and metabolism, DNA Repair Mechanisms
Most-Cited Works
- → Mesenchymal stem cells as anti-inflammatories: Implications for treatment of Duchenne muscular dystrophy(2009)158 cited
- → 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(2009)80 cited
- → A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3(2001)78 cited
- → A novel myosin heavy chain gene in human chromosome 19q13.3(2003)64 cited
- → Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum(2016)55 cited
- → Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair(2020)45 cited
- → The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25(2018)37 cited
- → DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria(2019)28 cited
- → Correlates of longitudinal leukocyte telomere length in the Costa Rican Longevity Study of Healthy Aging (CRELES): On the importance of DNA collection and storage procedures(2019)26 cited
- → Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3(2004)22 cited