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List of works by Alejandro Leal

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.

scientific article published in December 2014

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

scientific article

Amerindian ancestry and extended longevity in Nicoya, Costa Rica.

scientific article published on 8 September 2017

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

scientific article published on 05 July 2003

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

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

scientific article published on 09 May 2019

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

scientific article published on 20 July 2016

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

scientific article published on September 2004

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

scientific article

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

article

Immune effects of mesenchymal stem cells: implications for Charcot-Marie-Tooth disease.

scientific article published on May 2008

Mesenchymal stem cells as anti-inflammatories: implications for treatment of Duchenne muscular dystrophy.

scientific article published on January 2010

Mutational survivorship bias: The case of PNKP

scientific article published on 17 December 2020

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

article

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