Core clinical phenotypes in myotonic dystrophies

S Wenninger, F Montagnese, B Schoser - Frontiers in neurology, 2018 - frontiersin.org
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent
multisystemic muscular dystrophies in adulthood. They are progressive, autosomal …

The cognitive profile of myotonic dystrophy type 1: a systematic review and meta-analysis

K Okkersen, M Buskes, J Groenewoud, RPC Kessels… - Cortex, 2017 - Elsevier
Objective To examine the cognitive profile of patients with myotonic dystrophy type 1 (DM1)
on the basis of a systematic review and meta-analysis of the literature. Methods Embase …

Brain imaging in myotonic dystrophy type 1: A systematic review

K Okkersen, DG Monckton, N Le, AM Tuladhar… - Neurology, 2017 - AAN Enterprises
Objective: To systematically review brain imaging studies in myotonic dystrophy type 1
(DM1). Methods: We searched Embase (index period 1974–2016) and MEDLINE (index …

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 …

Myotonic dystrophies: state of the art of new therapeutic developments for the CNS

G Gourdon, G Meola - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart
dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting …

Current progress in CNS imaging of myotonic dystrophy

M Minnerop, C Gliem, C Kornblum - Frontiers in neurology, 2018 - frontiersin.org
Neuroimaging in myotonic dystrophies provided a major contribution to the insight into brain
involvement which is highly prevalent in these multisystemic disorders. Particular in …

Cognition in myotonic dystrophy type 1: a 5‐year follow‐up study

S Winblad, L Samuelsson, C Lindberg… - European journal of …, 2016 - Wiley Online Library
Background and purpose Studies on cognitive decline in myotonic dystrophy type 1 (DM 1)
are characterized by conflicting results. The purpose of the present study was to analyse …

[HTML][HTML] Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1

S Baldanzi, P Cecchi, S Fabbri, I Pesaresi… - NeuroImage: Clinical, 2016 - Elsevier
Abstract Myotonic dystrophy type 1 (DM1) has a wide phenotypic spectrum and potentially
may affect central nervous system with mild to severe involvement. Our aim was to …

Cerebellar microstructural abnormalities in bipolar depression and unipolar depression: a diffusion kurtosis and perfusion imaging study

L Zhao, Y Wang, Y Jia, S Zhong, Y Sun, Z Zhou… - Journal of affective …, 2016 - Elsevier
Background Depression in the context of bipolar disorder (BD) is often misdiagnosed as
unipolar depression (UD), leading to mistreatment and poor clinical outcomes. However …

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 …