DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria

por Bermúdez-Guzmán, Luis, Leal, Alejandro
Publicado 2019

Mutational survivorship bias: The case of PNKP

por Bermúdez-Guzmán, Luis, Jimenez-Huezo, Gabriel, Arguedas, Andrés, Leal, Alejandro
Publicado 2020

Diet and Leukocyte Telomere Length in a Population with Extended Longevity: The Costa Rican Longevity and Healthy Aging Study (CRELES)

por Ruiz-Narváez, Edward A., Baylin, Ana, Azofeifa, Jorge, Leal, Alejandro, Rosero-Bixby, Luis
Publicado 2021

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

por Rosero-Bixby, Luis, Rehkopf, David H., Dow, William H., Lin, Jue, Epel, Elissa S., Azofeifa, Jorge, Leal, Alejandro
Publicado 2019

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

por Kalasova, Ilona, Hailstone, Richard, Bublitz, Janin, Bogantes, Jovel, Hofmann, Winfried, Leal, Alejandro, Hanzlikova, Hana, Caldecott, Keith W
Publicado 2020

Performance Metric Analysis for a Jamming Detection Mechanism under Collaborative and Cooperative Schemes in Industrial Wireless Sensor Networks

por Cortés-Leal, Alejandro, Del-Valle-Soto, Carolina, Cardenas, Cesar, Valdivia, Leonardo J., Del Puerto-Flores, Jose Alberto
Publicado 2021

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

por Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekici, Arif B., Uebe, Steffen, Thiel, Christian T., Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André
Publicado 2018

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

por Neuser, Sonja, Krey, Ilona, Schwan, Annemarie, Abou Jamra, Rami, Bartolomaeus, Tobias, Döring, Jan, Syrbe, Steffen, Plassmann, Margit, Rohde, Stefan, Roth, Christian, Rehder, Helga, Radtke, Maximilian, Le Duc, Diana, Schubert, Susanna, Bermúdez-Guzmán, Luis, Leal, Alejandro, Schoner, Katharina, Popp, Bernt
Publicado 2021

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...

por Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado 2009

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...

por Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael Werner, Stassart, Ruth Martha, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado 2009