Brain pathogenesis and potential therapeutic strategies in myotonic dystrophy type 1
J Liu, ZN Guo, XL Yan, Y Yang… - Frontiers in aging …, 2021 - frontiersin.org
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects
multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR …
multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR …
Central nervous system involvement as outcome measure for clinical trials efficacy in myotonic dystrophy type 1
C Simoncini, G Spadoni, E Lai, L Santoni… - Frontiers in …, 2020 - frontiersin.org
Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease),
an autosomal dominant multisystem disorder caused by a (CTG) n expansion in DMPK gene …
an autosomal dominant multisystem disorder caused by a (CTG) n expansion in DMPK gene …
Transcriptome alterations in myotonic dystrophy frontal cortex
BA Otero, K Poukalov, RP Hildebrandt, CA Thornton… - Cell reports, 2021 - cell.com
Myotonic dystrophy (DM) is caused by expanded CTG/CCTG repeats, causing symptoms in
skeletal muscle, heart, and central nervous system (CNS). CNS issues are debilitating and …
skeletal muscle, heart, and central nervous system (CNS). CNS issues are debilitating and …
MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy
KH Morelli, W **, S Shathe, AA Madrigal… - Science translational …, 2022 - science.org
Myotonic dystrophy type 1 (DM1) is a multisystem, autosomal-dominant inherited disorder
caused by CTG microsatellite repeat expansions (MREs) in the 3′ untranslated region of …
caused by CTG microsatellite repeat expansions (MREs) in the 3′ untranslated region of …
Circadian timing, melatonin and hippocampal volume in later‐life adults
Hippocampal atrophy is a prominent neurodegenerative feature of Alzheimer's disease and
related dementias. Alterations in circadian rhythms can exacerbate cognitive aging and …
related dementias. Alterations in circadian rhythms can exacerbate cognitive aging and …
Abnormal cortical thickness is associated with deficits in social cognition in patients with myotonic dystrophy type 1
L Serra, G Bianchi, M Bruschini, G Giulietti… - Frontiers in …, 2020 - frontiersin.org
Aim: To investigate the cortical thickness in myotonic dystrophy type 1 (DM1) and its
potential association with patients' genetic triplet expansion and social cognition deficits …
potential association with patients' genetic triplet expansion and social cognition deficits …
Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances
Purpose Myotonic dystrophy type 1 (DM1) is a muscular dystrophy with neurological,
cognitive, and radiological abnormalities. The developmental or degenerative nature of …
cognitive, and radiological abnormalities. The developmental or degenerative nature of …
Cognitive deficits, apathy, and hypersomnolence represent the core brain symptoms of adult-onset myotonic dystrophy type 1
Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is
primarily characterized by muscle weakness and myotonia, yet some of the most disabling …
primarily characterized by muscle weakness and myotonia, yet some of the most disabling …
Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1
Background Quantitative muscle MRI as a sensitive marker of early muscle pathology and
disease progression in adult‐onset myotonic dystrophy type 1. The utility of muscle MRI as a …
disease progression in adult‐onset myotonic dystrophy type 1. The utility of muscle MRI as a …
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1
Objective We tested the hypothesis that variant repeat interruptions (RIs) within the DMPK
CTG repeat tract lead to milder symptoms compared with pure repeats (PRs) in myotonic …
CTG repeat tract lead to milder symptoms compared with pure repeats (PRs) in myotonic …