Results 1 to 10 of about 24,486 (144)

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

Myotonic Dystrophy [PDF]

Neurologic Clinics, 2012
Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene.
openaire   +3 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

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

Clinical care recommendations for cardiologists treating adults with myotonic dystrophy [PDF]

, 2020
Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart. Genetic testing for myotonic dystrophy is diagnostic and identifies those at risk for cardiac complications.
Bhakta, Deepak, Duboc, Denis, Groh, William J, Hellerstein, Leah, Itoh, Hideki, Mammen, Pradeep P A, Mann, Douglas L, McNally, Elizabeth M, Nazarian, Saman, Pinto, Yigal, Tamura, Takuhisa, Tomaselli, Gordon   +11 more
core   +3 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

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources

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

High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2 [PDF]

, 2018
Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by abnormally expanded stretches of CTG DNA triplets in the DMPK gene, leading to mutated-transcript RNA-toxicity.
Cappella, Marisa, Cardani, Rosanna, Cardinali, Beatrice, Carrara, Matteo, Fabio Martelli, And, Falcone, Germana, Fuschi, Paola, Manuel Garcia-Manteiga, Jose, Meola, Giovanni, Perfetti, Alessandra, Provenzano, Claudia, Valentina Renna, Laura   +11 more
core   +2 more sources

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   +3 more sources