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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and ...
Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study
Background Myotonic dystrophy type 1 (DM1) is an inherited multi-systemic disease involving the central nervous system (CNS) and is consequently characterized by a range of cognitive impairments. However, whether this ...