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White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study
(Nature Research, 2022-03)
[EN] Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and white matter (WM) tissues. WM changes in DM1 include increased hyperintensities and altered tract integrity distributed in a widespread ...
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 ...
Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations
(Frontiers Media, 2022)
[EN] LGMDR1 is caused by mutations in the CAPN3 gene that encodes calpain 3 (CAPN3), a non-lysosomal cysteine protease necessary for proper muscle function. Our previous findings show that CAPN3 deficiency leads to reduced ...
Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment
(Wolters Kluwer Health, 2022-12)
Background:Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol ...
Brain fog of post-COVID-19 condition and Chronic Fatigue Syndrome, same medical disorder?
(BMC, 2022-12)
Background: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is characterized by persistent physical and mental fatigue. The post-COVID-19 condition patients refer physical fatigue and cognitive impairment ...
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
(Springer, 2022-11)
Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated by the European ...
Senescence plays a role in myotonic dystrophy type 1 br
(American Society for Clinical Investigation, 2022-10)
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 ...
A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1
(Elsevier, 2022-09)
Currently, no rapid and specific instrument is available to briefly estimate intelligence in patients with myotonic dystrophy type 1 (DM1), a multisystemic disease that involves the CNS and is associated with cognitive ...
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 ...