Una familia costarricense afectada por la enfermedad de Charcot-Marie-Tooth, debido a la mutación p.thr124Met en la proteína mielina cero (MPZ) compartida con el haplotipo belga

por Leal Esquivel, Alejandro, Berghoff, Corinna, Berghoff, Martin, Rojas Araya, Melissa, Ortiz, Carolina, Heuss, Dieter, Rautenstrauss, Bernd
Publicado 2014

Late onset autosomal dominant Charcot– Marie–Tooth 2 neuropathy in a Costa Rican family

por Berghoff, Corinna, Berghoff, Martin, Leal, Alejandro, Morera, Bernal, Contreras, Carlos, Barrantes, Ramiro, Rautenstrauss, Bernd, Del Valle, Gerardo, Heuss, Dieter
Publicado 2022

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

por Berghoff, Corinna, Berghoff, Martin, Leal Esquivel, Alejandro, Morera Brenes, Bernal, Reis, André, Neundörfer, Bernhard, Bernd, Rautenstrauss, del Valle Carazo, Gerardo, Heuss, Dieter
Publicado 2015

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, Ekic, Arif B., Uebe, Steffen, Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André
Publicado 2023

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 fam...

por Leal Esquivel, Alejandro, Berghoff, Corinna, Berghoff, Martin, del Valle Carazo, Gerardo, Contreras, Carlos, Montoya, Olga, Hernández, Erick, Barrantes Mesén, Ramiro, Schlötzer Schrehardt, Ursula, Neundörfer, Bernhard, Reis, André, Rautenstrauss, Bernd, Heuss, Dieter
Publicado 2015

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

por Leal Esquivel, Alejandro, Morera Brenes, Bernal, del Valle Carazo, Gerardo, Heuss, Dieter, Kayser, Corinna, Berghoff, Martin, Villegas Palma, Ramón, Hernández, Erick, Méndez, María, Hennies, Hans Christian, Bernhard, Neundörfer, Barrantes Mesén, Ramiro, Reis, André, Rautenstrauss, Bernd
Publicado 2015

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, Meyer zu Horste, Gerd, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado 2022