Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Irene Pedrosa-Hernandez"'
Autor:
Ana Carrasco‐Rozas, Esther Fernández‐Simón, Maria Cinta Lleixà, Izaskun Belmonte, Irene Pedrosa-Hernandez, Elena Montiel-Morillo, Claudia Nuñez‐Peralta, Jaume Llauger Rossello, Sonia Segovia, Noemí De Luna, Xavier Suarez‐Calvet, Isabel Illa, Pompe Spanish Study group, Jordi Díaz‐Manera, Eduard Gallardo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1214-1224 (2019)
Abstract Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expressio
Externí odkaz:
https://doaj.org/article/3d16d64d0a1c4c4685e9063dc785cefc
Autor:
Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the
Externí odkaz:
https://doaj.org/article/0470816544d14c339d5608df7267ca17
Autor:
David Reyes-Leiva, Jorge Alonso-Pérez, Mercedes Mayos, Claudia Nuñez-Peralta, Jaume Llauger, Izaskun Belmonte, Irene Pedrosa-Hernández, Sonia Segovia, Jordi Díaz-Manera
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objectives: Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal musc
Externí odkaz:
https://doaj.org/article/9ec1aef99ea741589fdfb06e20e783ff