Results 91 to 100 of about 17,131 (226)
Two Cases of Endometrial Cancer in Twin Sisters with Myotonic Dystrophy
Case Reports in Obstetrics and Gynecology, 2016 We describe two cases of endometrial cancer (EC) occurring in nulligravid twin sisters with myotonic dystrophy. Both tested negative for Lynch syndrome and both were treated with laparoscopic hysterectomy with bilateral salpingooophorectomy and adjuvant ...
Ezra Y. Koh, Paul J. M. van Kesteren
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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, +2 more
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Aberrant Myokine Signaling in Congenital Myotonic Dystrophy
Cell Reports, 2017 Summary: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively.
Masayuki Nakamori +8 more
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A study of repeated lateral pinch grip in myotonic dystrophy
, 1999 BACKGROUND AND PURPOSE: Subjects with myotonic dystrophy present with progressive muscle weakness, myotonia and fatigue. The aim of this study was to determine whether there was a difference in response to fatiguing exercise in myotonic dystrophy ...
Burns, Y. R. +6 more
core +1 more source
Electrophysiological evaluation of oropharyngeal swallowing in myotonic dystrophy
, 2001 Objective-Oropharyngeal dysphagia is a common feature of patients with myotonic dystrophy and is not usually perceived due to their emotional deficits and lack of interest.
Yuceyar, N +3 more
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Cell Reports, 2018 Summary: The Muscleblind-like protein family (MBNL) plays an important role in regulating the transition between differentiation and pluripotency and in the pathogenesis of myotonic dystrophy type 1 (DM1), a CTG expansion disorder.
Pei-Ying Wang +4 more
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Myotonic dystrophy mimicking bilateral internuclear ophthalmoplegia
, 1997 Myotonic dystrophy is a disorder with frequent ophthalmologic features. A 44-year-old black male with myotonic dystrophy is described. The patient displays a previously unreported type of motility disturbance in myotonic dystrophy in which there is an ...
Walsh, T.J. +3 more
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Left ventricular myocardial function in myotonic dystrophy
, 1993 Myotonic dystrophy is an autosomal dominant disease affecting many organ systems, including the heart. Abnormalities of the cardiac conduction system are a frequent and well-documented finding in this neuromuscular disease, whereas overt signs of heart ...
PICELLI A +6 more
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A role for RNA localization in the human neuromuscular disease myotonic dystrophy
, 2009 textRNA localization, a regulated step of gene expression, is fundamentally important in development and differentiation. In multidisciplinary experiments, we discovered that RNA (mis)localization underlies the human disease myotonic dystrophy (DM).
Croft, Samantha Brooke
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Myasthenia gravis and thymoma coexisting with myotonic dystrophy type 1
, 2014 We describe a 34-year old man presenting with subacute generalized myasthenic symptoms. His clinical features and laboratory investigations demonstrated both myasthenia gravis and myotonic dystrophy type 1.
Karasoy, Hatice +4 more
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