E
Emilio Martínez-Cruz
Publications - 4
Citations - 73
Emilio Martínez-Cruz is an academic researcher. The author has contributed to research in topics: Spinocerebellar ataxia & Cerebellar ataxia. The author has an hindex of 4, co-authored 4 publications receiving 59 citations.
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Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect
Jonathan J. Magaña,Y. S. Tapia-Guerrero,Luis Velázquez-Pérez,César M Cerecedo-Zapata,M. Maldonado-Rodríguez,Joan Jano-Ito,Norberto Leyva-García,Rigoberto González-Piña,Emilio Martínez-Cruz,Oscar Hernández-Hernández,Bulmaro Cisneros +10 more
TL;DR: Genotyping of 300 healthy individuals from Mexican population and compiled data from different ethnicities showed discordant results concerning the hypothesis that SCA disease alleles arise by expansion of large normal alleles.
Journal ArticleDOI
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7
Luis Velázquez-Pérez,César M Cerecedo-Zapata,Oscar Hernández-Hernández,Emilio Martínez-Cruz,Y. S. Tapia-Guerrero,Rigoberto González-Piña,J. Salas-Vargas,Roberto Rodríguez-Labrada,R. Gurrola-Betancourth,Norberto Leyva-García,Bulmaro Cisneros,Jonathan J. Magaña +11 more
TL;DR: Ataxia rating scales confirmed the critical role size of cytosine-adenine-guanine (CAG) repeat size on age at onset and disease severity, while analysis of CAG repeat instability showed that paternal rather than maternal transmission led to greater instability.
Journal ArticleDOI
Spinocerebellar ataxia type 7: a neurodegenerative disorder with peripheral neuropathy.
José Salas-Vargas,Jocelyn Mancera-Gervacio,Luis Velázquez-Pérez,Roberto Rodrígez-Labrada,Emilio Martínez-Cruz,Jonathan J. Magaña,Alfredo Durand-Rivera,Oscar Hernández-Hernández,Bulmaro Cisneros,Rigoberto González-Piña +9 more
TL;DR: The results reveal the existence of a critical sensorimotor peripheral neuropathy in SCA7 patients and demonstrate that using sensitive electrophysiological tools to evaluate nerve conduction can improve the diagnosis and design of therapeutic options based on pharmacological and rehabilitative strategies.
Journal ArticleDOI
Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7
Rafael Nambo-Venegas,Claudia Valdez-Vargas,Bulmaro Cisneros,Berenice Palacios-González,Marcela Vela-Amieva,Isabel Ibarra-González,César M Cerecedo-Zapata,Emilio Martínez-Cruz,Hernán Cortés,Juan P. Reyes-Grajeda,Jonathan J. Magaña +10 more
TL;DR: In this paper, a metabolomics profiling of circulating acylcarnitines and amino acids in SCA7 patients is presented, which can serve as effective predictors of SCA-7 progression in the clinics.