Results 11 to 20 of about 26,826 (219)

Steinert's disease, from assumption to certainty in neurological practice [PDF]

Balneo and PRM Research Journal, 2022
Steinert’s disease, or myotonic dystrophy type 1 (MD1), is the most prevalent myopathy in adults. We report the case of a patient who was admitted to the Neurology Department for the progressive decrease in muscle strength in the lower limbs bilaterally.
Vitalie Văcăraș, Hapca Elian, Ionuț-Dănuț Isachi, Cristiana Văcăraș, Dafin Fior Mureșanu   +4 more
doaj   +1 more source

DNA methylation and trinucleotide repeat expansion diseases [PDF]

, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +2 more sources

Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]

, 2016
Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F, Choi, Jongkyu, Comai, Lucio, Dansithong, Warunee, Dixon, Donald M, Jordan, Maria C, Lee, Han Shin, Reddy, Sita, Roos, Kenneth P, Trac, Brandon   +9 more
core   +1 more source

CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function.
André, Laurène M., Cumming, Sarah A., Furling, Denis, Gourdon, Geneviève, Monckton, Darren G., Mouly, Vincent, van Agtmaal, Ellen L., van den Broek, Walther J.A.A., van Kessel, Ingeborg D.G., Wansink, Derick G., Wieringa, Bé, Willemse, Marieke   +11 more
core   +9 more sources

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Baiget, M., Gamez, J., Martorell, L., Monckton, D.G.   +3 more
core   +1 more source

Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1:A multicentre cohort follow-up study [PDF]

, 2017
Objective: High sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor of cardiac events in a variety of settings. We have explored its utility in patients with myotonic dystrophy type 1 (DM1).
A Hammerer-Lercher, Alan Japp, Alexis Duncan, Alison Wilcox, Anne McKeown, Anneli Cooper, AS Jaffe, AS Shah, AS Shah, AS Shah, B Udd, Berit Adam, C Gagnon, C Turner, Catherine McWilliam, CE Jackson, Cheryl Longman, CR deFilippi, D Bhakta, D Bhakta, Darren G. Monckton, DG Monckton, EM Hoogerwaard, F Morales, F Morales, FM Cox, FS Apple, GS Bodor, H Baum, H Petri, Helen Gregory, I Thorsteinsdottir, Iain Findlay, J De Pooter, J Hoff, J Mathieu, J Mladenovic, JA de Lemos, JK Lau, John Dean, Josephine McGhie, JT Saunders, KM Eggers, L De Ambroggi, M Biener, Maria E. Farrugia, Mark J. Hamilton, Martin A. Denvir, MC Hermans, Monika Rahman, NA Sorensen, P Choudhary, P Kaminsky, R Aggarwal, R Carda, R Valaperta, Richard Petty, Ruben Artero, S Morner, Sarah Cumming, T Matsumura, T Matsumura, T Omland, T Zeller, TC Aw, TJ Wang, V Rakocevic Stojanovic, W Reardon, WJ Groh, WJ Groh, Yvonne Robb   +70 more
core   +19 more sources

Pattern retinal dystrophy in a case of myotonic dystrophy

Journal of Clinical Ophthalmology and Research, 2023
Myotonic dystrophy is an autosomal dominant disease which can present with various ocular manifestations. A case of myotonic dystrophy presented with limited visual recovery postcataract surgery. Multimodal imaging analysis, including fundus photography,
Chahveer Singh Bindra, Parminder Singh Bindra, Bindra Preeti   +2 more
doaj   +1 more source

The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio, Cordts, Isabell, Hammans, Simon, Hilton-Jones, David, Jimenez-Moreno, Aura Cecilia, Lochmüller, Hanns, Maddison, Paul, Marini-Bettolo, Chiara, Monckton, Darren G., Nikolenko, Nikoletta, Orrell, Richard, Petty, Richard, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Straub, Volker, Thompson, Rachel, Turner, Chris, Wood, Libby   +18 more
core   +4 more sources

Myotonic dystrophy: genetics and clinical polymorphism

Анналы клинической и экспериментальной неврологии, 2019
Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova, Anna N. Moskalenko, Ekaterina Yu. Fedotova, Sergey A. Kurbatov, Sergey N. Illarioshkin   +4 more
doaj   +1 more source

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources