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

Leal Esquivel, Alejandro

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

Leal Esquivel, Alejandro

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa RicaFrecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica

Rojas Araya, Melissa; Bonilla Carrión, Róger Enrique; Campos, Sergio; Centeno, Carolina; Del Valle, Christian; Pacheco, Juan Pablo; Saborío, Alina; Vega, Jovel; Fernández, Hubert; Leal Esquivel, Alejandro

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa RicaFrecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica

Rojas Araya, Melissa; Bonilla Carrión, Roger E.; Campos, Sergio; Centeno, Carolina; Del Valle, Christian; Pacheco, Juan Pablo; Saborío, Alina; Vega, Jovel; Fernández, Hubert; Leal Esquivel, Alejandro

Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs

NEVES, Eduardo Luis de Aquino; KOK, Fernando (Academia Brasileira de Neurologia - ABNEURO, 2011)

Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the ...

Charcot-Marie-Tooth disease and posterior scleritis: a case report

Martins, Elisabeth N. [UNIFESP]; Branco, André C. [UNIFESP]; Alvarenga, Lênio S. [UNIFESP]; Uno, Fausto [UNIFESP]; Moraes, Nilva B. [UNIFESP]; Belfort, Rubens Junior [UNIFESP] (Conselho Brasileiro de Oftalmologia, 2000-10-01)

Purpose: To describe the unusual association of Charcot-Marie-Tooth disease (CMTD) and posterior scleritis. Methods: Case report of a 16-year-old female with decreased visual acuity and pain in both eyes. Results: ...

Distribución espacial de la enfermedad Charcot-Marie-Tooth en Costa Rica, 1990-2003

Bonilla Carrión, Róger Enrique; Leal Esquivel, Alejandro (2009)

Objetivo: Evaluar la distribución espacial como indicador de la incidencia de la enfermedad de Charcot-Marie-Tooth por los egresos hospitalarios reportados en Costa Rica entre el período 1990-2003. Métodos: Se aplicó un ...

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

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

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

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

Immune effects of mesenchymal stem cells: Implications for Charcot–Marie–Tooth disease

Leal Esquivel, Alejandro; Ichim, Thomas E.; Marleau, Annette M.; Lara, Fabián; Kaushal, Shalesh; Riordan, Neil H. (2008-07)

Mesenchymal stem cell (MSC) therapy is the most clinically advanced form of cell therapy, second to hematopoietic stem cell transplants. To date, MSC have been used for immune modulation in conditions such as Graft Versus ...

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

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

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa RicaFrecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica

Frecuencia del alelo causante de la enfermedad de Charcot-Marie-Tooth (tipo axonal con herencia autosómica recesiva) en Palmares, Costa RicaFrecuency of the allele causing the axonal form of autosomal recessive Charcot-Marie-Tooth in Palmares, Costa Rica

Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs

Charcot-Marie-Tooth disease and posterior scleritis: a case report

Distribución espacial de la enfermedad Charcot-Marie-Tooth en Costa Rica, 1990-2003

Immune effects of mesenchymal stem cells: Implications for Charcot–Marie–Tooth disease