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Filters: Author is Sevilla, Teresa and Type is Journal Article [Clear All Filters]
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome. Front Mol Neurosci. 2021;14:721047. doi:10.3389/fnmol.2021.721047.
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. The Journal of molecular diagnostics : JMD. 2016. doi:10.1016/j.jmoldx.2015.10.005.
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.