Results 31 to 40 of about 799 (137)
Distrofia Miotônica Tipo 1: Frequência Dos Achados Oftalmológicos [PDF]
, 2017 The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function.
de Carvalho K.M. +5 more
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Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1996 A major challenge in the study of a new genetic entity called triplet-repeat disease is to identify the role of triplet repeats in the pathogenesis of the disease. We have developed a strategy to demonstrate the effect in the 3'-untranslated end of the (CTG) repeats in myotonic dystrophy gene (MtPK) and found that repeat expansion (CTG46) causes a ...
Sasagawa, Noboru +7 more
openaire +2 more sources
The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1 [PDF]
, 2017 DM1 is an autosomal-dominant disorder characterized by muscle weakness, myotonia, and multisystemic involvement. According to current literature fatigue and daytime sleepiness are among the main symptoms of DM1.
BALDANZI, SIGRID +6 more
core +1 more source
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1996 A major question about the pathogenesis of myotonic dystrophy (DM) is how the (CTG)n repeat mutation alters expression of the DM gene and how that is related to disease causation. Most previous studies have found a decrease in DM RNA and protein in patient tissue.
S, Bhagavati +3 more
openaire +2 more sources
Molecular analysis of the eTG trinucleotide repeat in South African myotonic dystrophy families implications for diagnosis and counselling [PDF]
, 2017 No ...
Goldman, Aridrea +2 more
core +1 more source
Genetic and systems level analysis of Drosophila sticky/citron kinase and dFmr1 mutants reveals common regulation of genetic networks [PDF]
, 2008 Background In Drosophila, the genes sticky and dFmr1 have both been shown to regulate cytoskeletal dynamics and chromatin structure. These genes also genetically interact with Argonaute family microRNA regulators.
Bauer, Christopher R +4 more
core +3 more sources
Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center [PDF]
, 2020 The aim of the study was to identify possible predictors of neurological worsening and need of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy. Methods.
Agnoletto, Virginia +9 more
core +1 more source
, 2018 Hereditary myopathies are inherited disorders primarily affecting the skeletal muscle tissue. These are caused by mutations in different genes-encoding proteins that play important roles in muscle structure and function.
Bevilacqua, Jorge Alfredo +2 more
core +2 more sources
Genomics, 1996 The mutation associated with myotonic dystrophy (DM) is the expansion of an unstable trinucleotide repeat, (CTG)n, in the 3'-untranslated region of the myotonin protein kinase gene. Although expanded repeats show both germline and somatic instability, the mechanisms of the instability are poorly understood.
T, Ashizawa +5 more
openaire +2 more sources
Exploring the roles of stress, codon usage, and RNA modifications in myotonic dystrophy type 1 [PDF]
, 2022 Myotonic dystrophy (DM), the most common form of muscular dystrophy, is a neuromuscular disease caused by microsatellite repeat expansions. It can represent a multi-systemic autosomal dominant disease with DM1 and DM2 subtypes. A cytosine-thymine-guanine
Golestanian, Afrooz
core +1 more source