Search Results - "Lebrigio, Rafael F Acosta"

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia by Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni

“…Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three…”
Get full text

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia by Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric

“…Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to…”
Get full text

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis by Gonzalez, Michael A., Lebrigio, Rafael F. Acosta, Van Booven, Derek, Ulloa, Rick H., Powell, Eric, Speziani, Fiorella, Tekin, Mustafa, Schüle, Rebecca, Züchner, Stephan

“…ABSTRACT Novel genes are now identified at a rapid pace for many Mendelian disorders, and increasingly, for genetically complex phenotypes. However, new…”
Get full text

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens by Gonzalez, Michael A, Van Booven, Derek, Hulme, William, Ulloa, Rick H, Lebrigio, Rafael F Acosta, Osterloh, Jeannette, Logan, Mary, Freeman, Marc, Zuchner, Stephan

“…Forward genetic screens in Drosophila melanogaster using ethyl methanesulfonate (EMS) mutagenesis are a powerful approach for identifying genes that modulate…”
Get full text