Results 91 to 100 of about 34,474,015 (115)

Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1

, 2014
A wide range of ocular abnormalities have been documented to occur in patients with myotonic dystrophy type 1. The objectives of this study were to investigate the macular and optic nerve morphology using optical coherence tomography in patients with ...
Frampton, Chris, Danesh-Meyer, Helen V., Roxburgh, Richard H., Polkinghorne, Philip J., Kersten, Hannah M., Child, Nicholas   +5 more
core   +1 more source

Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy

Nature Communications
Myotonic dystrophy type 1 is a multisystemic disorder that has been extensively studied for decades, yet our understanding of its neuropathological aspect remains rudimentary.
Alex Chun Koon, Ka Yee Winnie Yeung, Yitao Wu, Lok I Leong, John Tsun Po Cheung, Zhefan Stephen Chen, Shaohong Isaac Peng, Noah S. Armstrong, C. Andrew Frank, Paul Magneron, Mário Gomes-Pereira, Joyce Man See Fung, Ariadna Bargiela, Nerea Moreno, Javier Poyatos-Garcia, Juan Vilchez, Aline Huguet-Lachon, Cassandra Kussius Brewer, Max Zinter, Erin S. Beck, Rubén Artero, Genevieve Gourdon, Vivian Budnik, Travis Thomson, Brian D. McCabe, Ho Yin Edwin Chan   +25 more
doaj   +1 more source

Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing

Myotonic dystrophy type 1 is an autosomal dominant condition due to a CTG repeat expansion in the myotonic dystrophy protein kinase (DMPK) gene. This multisystem disorder affects multiple organ systems.
Chase, Colby, Higashimoto, Tomoyasu, Damon, Jenna   +2 more
core   +1 more source

Clarification on “Myotonic Dystrophy Type 1 – An Atypical Presentation”

Annals of Indian Academy of Neurology
Joydeep Mukherjee, Sourav Nanda, Amar Kumar Mishra, Arindam Biswas   +3 more
doaj   +1 more source

Recurrent pulmonary embolism complicated with myotonic dystrophy type 1

Journal of General and Family Medicine
Hiraku Sedogawa, Masahiro Yabe, Keiichi Tsuchida, Yasuo Hirose   +3 more
doaj   +1 more source

Targeting Myotonic Dystrophy Type 1 with Metformin [PDF]

International Journal of Molecular Sciences, 2022
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 multiple organs are also common.
Mikel García-Puga, Adolfo Lopez de Munain, Adolfo Lopez de Munain   +2 more
exaly   +2 more sources

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Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1

International Journal of Molecular Sciences, 2022
Mohamed Boutjdir, Mohamed Chahine, Thiery de Serres-Bérard   +2 more
exaly  

Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2

International Journal of Molecular Sciences, 2022
Janel A M Peterson, Thomas Cooper
exaly  

Chronic Pain in Persons With Myotonic Dystrophy and Facioscapulohumeral Dystrophy

Archives of Physical Medicine and Rehabilitation, 2008
Gregory Carter, Craig McDonald, Mark Jensen   +2 more
exaly  

Congenital Myotonic Dystrophy: Canadian Population-Based Surveillance Study

Journal of Pediatrics, 2013
Craig Campbell, Victoria Mok Siu, Simon Levin   +2 more
exaly