Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
European Journal Of Human Genetics : Ejhg
Morais, Sara S; Raymond, Laure L; Mairey, Mathilde M; Coutinho, Paula P; Brandão, Eva E; Ribeiro, Paula P; Loureiro, José Leal JL; Sequeiros, Jorge J; Brice, Alexis A; Alonso, Isabel I; Stevanin, Giovanni G
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Movement Disorders : Official Journal Of The Movement Disorder Society
Fogel, Brent L BL; Lee, Ji Yong JY; Lane, Jessica J; Wahnich, Amanda A; Chan, Sandy S; Huang, Alden A; Osborn, Greg E GE; Klein, Eric E; Mamah, Catherine C; Perlman, Susan S; Geschwind, Daniel H DH; Coppola, Giovanni G
Publication Date: 2012-03
Variant appearance in text: SACS: N4573H; rs34382952
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
The Journal Of Molecular Diagnostics : Jmd
Vermeer, Sascha S; Meijer, Rowdy P P RP; Hofste, Tom G J TG; Bodmer, Daniëlle D; Bosgoed, Ermanno A J EA; Cremers, Frans P M FP; Kremer, Berry H P BH; Knoers, Nine V A M NV; Scheffer, Hans H