Výsledky vyhledávání - "Jaime Cervera-Gaviria"

Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

Autor: Julián García-Sánchez, Julia Enterría-Rosales, Juan José Juárez-Vignon-Whaley, Jaime Cervera-Gaviria, Rodrigo Treviño-Velasco, Marivi Cervera-Gaviria

Publikováno v: Journal of Pediatric Genetics.

Mutations in the FKRP gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the FKRP gene (c.1387A > G, p.Asn46

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a159e4d9811234f5df53c85f450802c2
https://doi.org/10.1055/s-0041-1726470

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An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family

Autor: Paola Moyers-Pérez, Jaime Cervera-Gaviria, Ariadna González-del Angel, Nancy Barrera-Carmona, Marivi Cervera-Gaviria, Miguel Angel Alcántara-Ortigoza, Blanca Gabriela Lizet Legorreta-Ramírez

Publikováno v: BMC Neurology

Background Niemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by defects in intracellular lipid trafficking, which lead to the accumulation of lipids and glycosphingolipids within the end

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7bd9f6e3094010538c1d4fcd9cc7491
https://doi.org/10.1186/s12883-016-0649-5

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