Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

Por Sabatelli, Patrizia, Castagnaro, Silvia, Tagliavini, Francesca, Chrisam, Martina, Sardone, Francesca, Demay, Laurence, Richard, Pascale, Santi, Spartaco, Maraldi, Nadir M., Merlini, Luciano, Sandri, Marco, Bonaldo, Paolo
Publicado em 2014

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

Por Richard, Pascale, Trollet, Capucine, Gidaro, Teresa, Demay, Laurence, Brochier, Guy, Malfatti, Edoardo, Tom, Fernando MS, Fardeau, Michel, Lafor, Pascal, Romero, Norma, Martin-N, Marie-Laure, Sol, Guilhem, Ferrer-Monasterio, Xavier, Saint-Guily, Jean Lacau, Eymard, Bruno
Publicado no J Neuromuscul Dis (2015)