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Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
(Cell Press, 2022-06-17)
Mutations in LRRK2 increase its kinase activity and cause Parkinson's disease. LRRK2 phosphorylates a subset of Rab proteins which allows for their binding to RILPL1. The phospho-Rab/RILPL1 interaction causes deficits in ...
Targeting Myotonic Dystrophy Type 1 with Metformin
(MDPI, 2022-03)
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder of genetic origin. Progressive muscular weakness, atrophy and myotonia are its most prominent neuromuscular features, while additional clinical manifestations in ...
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
(Wiley, 2022-02)
[EN] Objective: To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. Methods: ...
Risk factors associated with COVID-19 infection and mortality in nursing homes
(Elsevier, 2022-10)
Objective: The aim of this paper was to analyse the association of demographic, clinical and pharmacological risk factors with the presence of SARS-COV-2 virus infection, as well as to know the variables related to mortality ...
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 ...
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 ...