O
Oscar Hernández-Hernández
Researcher at Necker-Enfants Malades Hospital
Publications - 39
Citations - 490
Oscar Hernández-Hernández is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Spinocerebellar ataxia & Myotonic dystrophy. The author has an hindex of 13, co-authored 33 publications receiving 388 citations. Previous affiliations of Oscar Hernández-Hernández include CINVESTAV & Instituto Politécnico Nacional.
Papers
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Journal ArticleDOI
Dysferlin quantification in monocytes for rapid screening for dysferlinopathies.
Laura Sánchez-Chapul,Miguel Del Ángel-Muñoz,Luis Ruano-Calderón,Alexandra Luna-Angulo,Ramón Mauricio Coral-Vázquez,Oscar Hernández-Hernández,Jonathan J. Magaña,Saúl R León-Hernández,Rosa Elena Escobar-Cedillo,Steven Vargas +9 more
TL;DR: In this paper, normal levels of dysferlin expression in CD14+ monocytes were determined by flow cytometry as a screening tool for dysflinopathies using mean fluorescence intensity (MFI).
Book ChapterDOI
Myotonic Dystrophy Protein Kinase: Structure, Function and Its Possible Role in the Pathogenesis of Myotonic Dystrophy Type 1
Jonathan J. Magaña,Rocío Suárez-Sánchez,Norberto Leyva-García,Bulmaro Cisneros,Oscar Hernández-Hernández +4 more
TL;DR: An RNA-mediated dominant gain-of-function is currently accepted as the pathogenic mechanism to explain features of the myotonic dystrophy type 1 disease.
Journal ArticleDOI
Recessive Spinocerebellar Ataxia with Paroxysmal Cough Attacks: A Report of Five Cases
Luis Velázquez-Pérez,Rigoberto González-Piña,Roberto Rodríguez-Labrada,Raúl Aguilera-Rodríguez,Lourdes Galicia-Polo,Yaimeé Vázquez-Mojena,Ana M. Cortés-Rubio,Marla R. Trujillo-Bracamontes,César M Cerecedo-Zapata,Oscar Hernández-Hernández,Bulmaro Cisneros,Jonathan J. Magaña +11 more
TL;DR: Clinical criteria and molecular genetic testing suggest the presence of a new form of recessive ataxia, in which cerebellar signs are preceded by paroxysmal cough, which affects not only the cerebellum and its fiber connections, but also the sensory peripheral nervous system and extracerebellar central pathways.
Journal ArticleDOI
Detección de la duplicación del gen PMP22 en pacientes con neuropatía periférica: estudio en la población mexicana
Hernán Cortés,Oscar Hernández-Hernández,Teresa Bautista-Tirado,Rosa Elena Escobar-Cedillo,Jonathan J. Magaña,Norberto Leyva-García +5 more
TL;DR: In this article, a metodo for uso rutinario to detect duplicación of PMP22 in the población mexicana was proposed.
Diagnóstico molecular de enfermedades neuromusculares en el Instituto Nacional de Rehabilitación, situación actual y perspectivas Molecular diagnosis of neuromuscular diseases at the Instituto Nacional de Rehabilitación (National Institute of Rehabilitation), current situation and prospects
Alexandra Luna-Angulo,Rocío Suárez-Sánchez,Hernán Cortés-Callejas,Luis Ruano-Calderón,Rosa Elena Escobar-Cedillo,Y. S. Tapia-Guerrero,Luz Márquez-Quiróz,Joan Jano-Ito,Ana Lilia Cedeño-Garciadueñas,Norberto Leyva-García,Oscar Hernández-Hernández,Laura Sánchez-Chapul,Jonathan J Magaña-Aguirre +12 more
TL;DR: In Mexico, around six million people have some kind of disability, of which neuromuscular diseases remain one of the most common causes of inability and death; therefore, many cases are identified belatedly or not diagnosed at all, due to lack economic resources or the absence of specialized study centers.