Publications by authors named "Alejandro Leal"

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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Sonja Neuser, Ilona Krey, Annemarie Schwan, Rami Abou Jamra, Tobias Bartolomaeus, Alejandro Leal

Eur J Hum Genet· January 2022

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Diet and Leukocyte Telomere Length in a Population with Extended Longevity: The Costa Rican Longevity and Healthy Aging Study (CRELES).
Edward A Ruiz-Narváez, Ana Baylin, Jorge Azofeifa, Alejandro Leal, Luis Rosero-Bixby

Nutrients· July 2021

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Mutational survivorship bias: The case of PNKP.
Luis Bermúdez-Guzmán, Gabriel Jimenez-Huezo, Andrés Arguedas, Alejandro Leal

PLoS One· January 2021

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Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
Ilona Kalasova, Richard Hailstone, Janin Bublitz, Jovel Bogantes, Winfried Hofmann, Alejandro Leal

Nucleic Acids Res· July 2020

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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.
Luis Rosero-Bixby, David H Rehkopf, William H Dow, Jue Lin, Elissa S Epel, Alejandro Leal

PLoS One· March 2020

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DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria.
Luis Bermúdez-Guzmán, Alejandro Leal

Transl Neurodegener· May 2019

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The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, Steffen Uebe, Christian T Thiel

Neurogenetics· December 2018

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Amerindian ancestry and extended longevity in Nicoya, Costa Rica.
Jorge Azofeifa, Edward A Ruiz-Narváez, Alejandro Leal, Hanna Gerlovin, Luis Rosero-Bixby

Am J Hum Biol· January 2018

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A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.
Tanya Lobo-Prada, Heinrich Sticht, Sixto Bogantes-Ledezma, Arif Ekici, Steffen Uebe, Alejandro Leal

JIMD Rep· January 2017

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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Alejandro Leal

J Med Genet· December 2016

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A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.
Alejandro Leal, Corinna Berghoff, Martin Berghoff, Melissa Rojas-Araya, Ortiz Carolina

Rev Biol Trop· December 2014

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Mesenchymal stem cells as anti-inflammatories: implications for treatment of Duchenne muscular dystrophy.
Thomas E Ichim, Doru T Alexandrescu, Fabio Solano, Fabian Lara, Rosalia De Necochea Campion, Alejandro Leal

Cell Immunol· January 2010

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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, Heinrich Sticht, Philipp Berger

Neurogenetics· October 2009

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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, Heinrich Sticht, Philipp Berger

Neurogenetics· October 2009

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Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.
Corinna Berghoff, Martin Berghoff, Alejandro Leal, Bernal Morera, Carlos Contreras

Neurol Res· April 2009

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Immune effects of mesenchymal stem cells: implications for Charcot-Marie-Tooth disease.
Alejandro Leal, Thomas E Ichim, Annette M Marleau, Fabian Lara, Shalesh Kaushal

Cell Immunol· October 2008

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The homeobox gene GAX activates p21WAF1/CIP1 expression in vascular endothelial cells through direct interaction with upstream AT-rich sequences.
Yun Chen, Alejandro D Leal, Sejal Patel, David H Gorski

J Biol Chem· January 2007

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The homeobox gene Gax inhibits angiogenesis through inhibition of nuclear factor-kappaB-dependent endothelial cell gene expression.
Sejal Patel, Alejandro D Leal, David H Gorski

Cancer Res· February 2005

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Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution.
Alejandro Leal

Rev Biol Trop· September 2004

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Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
Corinna Berghoff, Martin Berghoff, Alejandro Leal, Bernal Morera, Ramiro Barrantes

Neuromuscul Disord· May 2004

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Differential expression of vascular endothelial growth factor-A isoforms at different stages of melanoma progression.
David H Gorski, Alejandro D Leal, James S Goydos

J Am Coll Surg· September 2003

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Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Alejandro Leal, Corinna Berghoff, Martin Berghoff, Gerardo Del Valle, Carlos Contreras

Neurogenetics· August 2003

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A novel myosin heavy chain gene in human chromosome 19q13.3.
Alejandro Leal, Sabine Endele, Corinna Stengel, Kathrin Huehne, Joachim Loetterle

Gene· July 2003

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Inhibition of endothelial cell activation by the homeobox gene Gax.
David H Gorski, Alejandro J Leal

J Surg Res· May 2003

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