Now showing items 1-4 of 4
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 ...
Dermic-derived fibroblasts for the study of amyotrophic lateral sclerosis
(Wolters Kluwer - Medknow, 2020-11)
Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin
(Impact Journals, 2020-04-15)
Myotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 ...