Results 81 to 90 of about 34,474,015 (115)

Executive cognitive dysfunction in adult onset Myotonic Dystrophy type 1

, 2015
Background: executive cognitive dysfunction associated with apathy, reduced planning skills, flexibility and multitasking has been reported in adult onset Myotonic Dystrophy type 1 (DM1).
Lindberg, Christopher,, Hällgren, Marita, Winblad, Stefan,   +2 more
core  

Clinical characteristics of 17 patients with myotonic dystrophy type 1.

, 2015
Clinical characteristics of 17 patients with myotonic dystrophy type 1.
Tesseki Izumi (731208), Kimihiko Kichikawa (610545), Toshio Taoka (731205), Satoshi Ueno (731209), Aya Kumazawa (731207), Kazuma Sugie (731203), Miho Sugie (731204), Yasuyo Tonomura (731206)   +7 more
core   +1 more source

Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland

Molecular Genetics & Genomic Medicine
Background Myotonic Dystrophy type 1 (DM1) is an autosomal dominant disease with anticipation due to increased number of CTG repeats in the DMPK gene.
E. G. Hallgrímsdóttir, H. Svansson, V. F. Stefánsdóttir, Ó. Á. Sveinsson, H. Ólafsdóttir, E. Briem, S. Sveinbjörnsdóttir, J. J. Jónsson   +7 more
doaj   +1 more source

Myotonic dystrophy as a potential killer

, 2009
A 19-year-old man suffered a cardiac arrest during a promenade with his friends. Cardiac resuscitation was started immediately. Anamnesis uncovered that the father as well as a cousin of the patient suffered from myotonic dystrophy (MD).
Joerg, Lucas, Rickli, Hans, Brenner, Roman   +2 more
core   +1 more source

Myotonic Dystrophy: An Anaesthetic Dilemma

Indian Journal of Anaesthesia, 2009
Myotonic dystrophy (dystrophia myotonica, DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age.
N Gupta, K N Saxena, Asish Kumar Panda, Raktima Anand, Anil Mishra   +4 more
doaj  

Hypericin repairs misregulated splicing events associated with myotonic dystrophy in type 1 myoblast lines

Genetics & Applications
Myotonic dystrophy is associated with the molecular event of misregulated splicing of a subset of RNAs, which contribute to some of the disease phenotypes.
Inyang Udofia Udosen, Monday Isaiah Akpanabiatu, Usenobong Friday Ufot   +2 more
doaj   +1 more source

Myotonic dystrophy: diagnosis, management and new therapies.

, 2014
PURPOSE OF REVIEW: Myotonic dystrophies type 1 and type 2 are progressive multisystem genetic disorders with clinical and genetic features in common. Myotonic dystrophy type 1 is the most prevalent muscular dystrophy in adults and has a wide phenotypic ...
Hilton-Jones, David, Turner, C
core   +1 more source

Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.

, 2007
International audienceInheritance of a novel RYR1 mutation in a family with myotonic dystrophy type ...
Lunardi, J., Malandrini, Alessandro, Gaudiano, Carmen, Brunori, Paola, Zicari, Enza, Dotti, Maria Teresa, Sorrentino, V., Berti, G., Galli, L., Perticoni, Gianfranco, Lunardi, Joël, Gambelli, Simona, Malandrini, A., Federico, A., Gaudiano, C., Galli, Lucia, Berti, Gianna, Orrico, A., Gambelli, S., Brunori, P., Perticoni, G., Federico, Antonio, Sorrentino, Vincenzo, Orrico, Alfredo, Zicari, E., Dotti, M. T.   +25 more
core   +1 more source

Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2

Heliyon
Introduction: Myotonic dystrophy type 1 (DM1) and 2 (DM2) are genetically determined progressive muscular disorders with multisystemic affection, including brain involvement.
Milija Mijajlovic, Ivo Bozovic, Aleksandra Pavlovic, Vidosava Rakocevic-Stojanovic, Sanja Gluscevic, Amalija Stojanovic, Ivana Basta, Giovanni Meola, Stojan Peric   +8 more
doaj   +1 more source

Cardiac manifestations of myotonic dystrophy type 1

, 2012
To estimate the degree of cardiac involvement regarding left ventricular ejection fraction, conduction abnormalities, arrhythmia, risk of sudden cardiac death (SCD) and the associations between cardiac involvement and cytosine-thymine-guanine (CTG ...
Henning Bundgaard, Petri, Helle, Lars Køber, Vissing, John, Nanna Witting, Witting, Nanna, Køber, Lars, Bundgaard, Henning, Helle Petri, John Vissing   +9 more
core   +1 more source