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Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study
(Wiley, 2019-12)
Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with ...
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 ...
Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert
(Elsevier, 2020-04)
Background and objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues ...
The Unexpected Co-Occurrence of GRN and MAPT p.A152T in Basque Families: Clinical and Pathological Characteristics
(Public Library Science, 2017-06-08)
Background
The co-occurrence of the c.709-1G > A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD). We aimed to investigate the influence of ...
Gene Expression Analysis of Astrocyte and Microglia Endocannabinoid Signaling during Autoimmune Demyelination
(MDPI, 2020-08-24)
The endocannabinoid system is associated with protective effects in multiple sclerosis (MS) that involve attenuated innate immune cell responses. Astrocytes and microglia are modulated by endocannabinoids and participate ...
Parafoveal thinning of inner retina is associated with visual dysfunction in Lewy body diseases
(Wiley, 2019-05-28)
Background Retinal optical coherence tomography findings in Lewy body diseases and their implications for visual outcomes remain controversial. We investigated whether region-specific thickness analysis of retinal layers ...
Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area
(Elsevier, 2018-11)
Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades ...
Association Between Medication Adherence and Oxidative Stress in Patients With First-Episode Mania
(Frontiers Media, 2019-03-26)
Poor adherence is a major problem in patients with manic episodes that impairs functionality and has unknown effects on oxidative stress. The objective of this study was to analyze the relationship between adherence to ...
Translating big data to better treatment in bipolar disorder - a manifesto for coordinated action
(Elsevier, 2020-06-12)
[EN] Bipolar disorder (BD) is a major healthcare and socio-economic challenge. Despite its substan- tial burden on society, the research activity in BD is much smaller than its economic impact appears to demand. There is ...
Contribution of Neurons and Glial Cells to Complement-Mediated Synapse Removal during Development, Aging and in Alzheimer’s Disease
(Hindawi, 2018)
Synapse loss is an early manifestation of pathology in Alzheimer's disease (AD) and is currently the best correlate to cognitive decline. Microglial cells are involved in synapse pruning during development via the complement ...