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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 ...
Metabolic Alterations in Plasma from Patients with Familial and Idiopathic Parkinson's Disease
(Impact Journals LLC, 2020-09-15)
The research of new biomarkers for Parkinson's disease is essential for accurate and precocious diagnosis, as well as for the discovery of new potential disease mechanisms and drug targets. The main objective of this work ...
Dermic-derived fibroblasts for the study of amyotrophic lateral sclerosis
(Wolters Kluwer - Medknow, 2020-11)
Patient-Specific iPSC-Derived Cellular Models of LGMDR1
(Elsevier, 2021-04-08)
Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain ...
Common Variants in Alzheimer’s Disease and Risk Stratification by Polygenic Risk Scores
(Springer, 2021-06-07)
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ...
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy
(Elsevier, 2021-12-03)
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the DMPK gene. CUG expansions in mutant DMPK transcripts sequester MBNL1 proteins in ...
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
(Wiley, 2020-01)
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 ...
Neurodegeneration Trajectory in Pediatric and Adult/Late DM1: a Follow-up MRI Study Across a Decade
(Wiley, 2020-10)
Objective: To characterize the progression of brain structural abnormalities in adults with pediatric and adult/late onset DM1, as well as to examine the potential predictive markers of such progression.
Methods: 21 DM1 ...
Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study
(Wiley, 2020-03)
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 ...