Results 71 to 80 of about 33,763 (228)

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]

, 2015
Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu, Comai, Lucio, Dixon, Donald M, El-Ghazali, Ayea, Fishbein, Michael C, Jordan, Maria C, Park, Sun Young, Reddy, Sita, Roos, Kenneth P   +8 more
core  

Brain connectomics' modification to clarify motor and nonmotor features of myotonic dystrophy type 1 [PDF]

, 2016
The adult form of myotonic dystrophy type 1 (DM1) presents with paradoxical inconsistencies between severity of brain damage, relative preservation of cognition, and failure in everyday life.
Bozzali, Marco, Caltagirone, Carlo, Cercignani, Mara, Giacanelli, Manlio, Mancini, Matteo, Masciullo, Marcella, Mastropasqua, Chiara, Meola, Giovanni, Petrucci, Antonio, Serra, Laura, Silvestri, Gabriella, Spanò, Barbara, Torso, Mario   +12 more
core   +6 more sources

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Frontiers in Cellular Neuroscience, 2017
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 newborns and children for myotonic dystrophy type 1 and adults for both
Genevieve Gourdon, Genevieve Gourdon, Giovanni Meola   +2 more
doaj   +1 more source

First person – Melissa Hinman

Disease Models & Mechanisms, 2021
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Myotonic Dystrophy Initially Presenting as Tachycardiomyopathy Successful Catheter Ablation of Atrial Flutter

Cardiology Research and Practice, 2010
Myotonic dystrophy is a genetic muscular disease that is frequently associated with cardiac arrhythmias. Bradyarrhythmias, such as sinus bradycardia and atrioventricular block, are more common than tachyarrhythmias.
S. Asbach, K. J. Gutleben, P. Dahlem, J. Brachmann, G. Nölker   +4 more
doaj   +1 more source

A trigger-happy soldier with bilateral ptosis and dysphagia

Biomedical Journal, 2015
Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
doaj   +1 more source

Prevalence of myotonic dystrophy in Iceland [PDF]

, 2007
Neðst á síðunni er hægt er að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenOBJECTIVE: Epidemiologic studies of Myotonic Dystrophy (Dystrophic Myotony, DM) have shown variable regional prevalence from 0,46 to 189/105.
Gerður Leifsdóttir, Guðjón Jóhannesson, John Benedikz, Jón Jóhannes Jónsson, Sigurlaug Svein­björnsdóttir   +4 more
core  

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins [PDF]

, 2014
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins ...
Cabecinha, M, Clayton, EL, Cleverley, K, Devoy, A, Dols, J, Fisher, EMC, Fratta, P, Grönke, S, Hendrich, O, Isaacs, AM, Mizielinska, S, Moens, T, Niccoli, T, Nicoll, AJ, Norona, FE, Partridge, L, Pickering-Brown, S, Pietrzyk, J, Ridler, CE, Woollacott, IOC   +19 more
core   +1 more source

Quantitative methods to monitor RNA biomarkers in myotonic dystrophy [PDF]

, 2018
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in afected genes.
A Ketley, A Mankodi, A Mankodi, A Perfetti, AE Gudde, AO Nygren, BJ Hindson, CL Liquori, E Eldering, J Liu, JD Brook, JF Huggett, JF Huggett, JP Schouten, K Klonowska, KL Taneja, LJ Sznajder, M DeJesus-Hernandez, M Goodwin, M Marcinkowska-Swojak, M Marcinkowska-Swojak, M Nakamori, M Rozanska, M Wojciechowska, M Wojciechowska, M Wojciechowska, MG Hamshere, P Kozlowski, R Batra, RA White 3rd, RB Siboni   +30 more
core   +1 more source

Correction: Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019

Orphanet Journal of Rare Diseases, 2022
Sarah J. Howe, David Lapidus, Michael Hull, Jason Yeaw, Tanya Stevenson, Jacinda B. Sampson   +5 more
doaj   +1 more source