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Quoted phrase not found in phrase index: "Late-onset Steinert myotonic dystrophy"
Page 1
Late-onset myopathies: clinical features and diagnosis.
de Visser M. de Visser M. Acta Myol. 2020 Dec 1;39(4):235-244. doi: 10.36185/2532-1900-027. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458579 Free PMC article. Review.
Late-onset myopathies are not well-defined since there is no clear definition of 'late onset'. ...In addition, there are diseases with a wide range of onset including 'late onset' muscle weakness. Well-known and rather frequently occurrin …
Late-onset myopathies are not well-defined since there is no clear definition of 'late onset'. ...In addition, t …
Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.
Hofmeister F, Baber L, Ferrari U, Hintze S, Jarmusch S, Krause S, Meinke P, Mehaffey S, Neuerburg C, Tangenelli F, Schoser B, Drey M. Hofmeister F, et al. BMC Neurol. 2021 Jun 25;21(1):241. doi: 10.1186/s12883-021-02264-y. BMC Neurol. 2021. PMID: 34172001 Free PMC article.
METHODS: Patients over 65 years of age with sarcopenia, amyotrophic lateral sclerosis, inclusion body myositis and myotonic dystrophy type 2 were recruited. All patients were assessed for sarcopenia based on the revised European consensus definition. ...The most com …
METHODS: Patients over 65 years of age with sarcopenia, amyotrophic lateral sclerosis, inclusion body myositis and myotonic dystro …
White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study.
Labayru G, Camino B, Jimenez-Marin A, Garmendia J, Villanua J, Zulaica M, Cortes JM, López de Munain A, Sistiaga A. Labayru G, et al. Sci Rep. 2022 Mar 7;12(1):3988. doi: 10.1038/s41598-022-07820-1. Sci Rep. 2022. PMID: 35256728 Free PMC article.
Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and white matter (WM) tissues. ...However, the precise temporal and spatial progression of the changes are yet undetermined. MRI data were acquired from 8 adult- and late-onset …
Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and white matter (WM) tissues. ...However, the pr …
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.
Meola G. Meola G. Acta Myol. 2013 Dec;32(3):154-65. Acta Myol. 2013. PMID: 24803843 Free PMC article. Review.
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic …
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive my …
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.
Santoro M, Masciullo M, Silvestri G, Novelli G, Botta A. Santoro M, et al. Clin Genet. 2017 Oct;92(4):355-364. doi: 10.1111/cge.12954. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27991661 Review.
Myotonic dystrophy type 1 (DM1) is a multisystem neuromuscular disease caused by a CTG triplet expansion in the 3'-untranslated region (3'-UTR) of DMPK gene. ...Moreover, DM1 patients carrying interrupted alleles can manifest either additional atypical neurological …
Myotonic dystrophy type 1 (DM1) is a multisystem neuromuscular disease caused by a CTG triplet expansion in the 3'-untranslate …
Lower limb muscle impairment in myotonic dystrophy type 1: the need for better guidelines.
Petitclerc É, Hébert LJ, Desrosiers J, Gagnon C. Petitclerc É, et al. Muscle Nerve. 2015 Apr;51(4):473-8. doi: 10.1002/mus.24521. Epub 2015 Feb 25. Muscle Nerve. 2015. PMID: 25399769 Review.
In myotonic dystrophy type 1 (DM1), leg muscle weakness is a major impairment. ...A systematic literature review was conducted on lower limb strength impairment in late-onset and adult phenotypes to document variables which affect strength measurement. …
In myotonic dystrophy type 1 (DM1), leg muscle weakness is a major impairment. ...A systematic literature review was conducted …
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.
Kottlors M, Moske-Eick O, Huebner A, Krause S, Mueller K, Kress W, Schwarzwald R, Bornemann A, Haug V, Heitzer M, Kirschner J. Kottlors M, et al. J Neurol Sci. 2010 Apr 15;291(1-2):79-85. doi: 10.1016/j.jns.2009.12.008. Epub 2010 Feb 8. J Neurol Sci. 2010. PMID: 20116073
We report on a German family with late-onset autosomal dominant muscular dystrophy starting in the pelvic girdle about age 40years, a subsequent rapidly-progressing course, high alkaline phosphatase and Paget's disease of bone. ...Mutations in VCP, filamin C, …
We report on a German family with late-onset autosomal dominant muscular dystrophy starting in the pelvic girdle about …
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Ballester-Lopez A, Koehorst E, Almendrote M, Martínez-Piñeiro A, Lucente G, Linares-Pardo I, Núñez-Manchón J, Guanyabens N, Cano A, Lucia A, Overend G, Cumming SA, Monckton DG, Casadevall T, Isern I, Sánchez-Ojanguren J, Planas A, Rodríguez-Palmero A, Monlleó-Neila L, Pintos-Morell G, Ramos-Fransi A, Coll-Cantí J, Nogales-Gadea G. Ballester-Lopez A, et al. Hum Mutat. 2020 Feb;41(2):420-431. doi: 10.1002/humu.23932. Epub 2019 Nov 4. Hum Mutat. 2020. PMID: 31608518 Free article.
Carriage of interruptions in CTG repeats of the myotonic dystrophy protein kinase gene has been associated with a broad spectrum of myotonic dystrophy type 1 (DM1) phenotypes, mostly mild. ...Five patients of our registry (10%), belonging to the same f …
Carriage of interruptions in CTG repeats of the myotonic dystrophy protein kinase gene has been associated with a broad spectr …
Validity of the Mini-BESTest in adults with myotonic dystrophy type 1.
Duchesne E, Hébert LJ, Mathieu J, Côté I, Roussel MP, Gagnon C. Duchesne E, et al. Muscle Nerve. 2020 Jul;62(1):95-102. doi: 10.1002/mus.26893. Epub 2020 May 3. Muscle Nerve. 2020. PMID: 32314404
INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease that causes balance problems. The objective of this study was to assess the construct validity of the Mini-BESTest among adults with DM1. METHODS: Fifty-nine individuals with l …
INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease that causes balance problems. The objec …
Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade.
Labayru G, Jimenez-Marin A, Fernández E, Villanua J, Zulaica M, Cortes JM, Díez I, Sepulcre J, López de Munain A, Sistiaga A. Labayru G, et al. Ann Clin Transl Neurol. 2020 Oct;7(10):1802-1815. doi: 10.1002/acn3.51163. Epub 2020 Sep 2. Ann Clin Transl Neurol. 2020. PMID: 32881379 Free PMC article.
OBJECTIVE: To characterize the progression of brain structural abnormalities in adults with pediatric and adult/late onset DM1, as well as to examine the potential predictive markers of such progression. METHODS: 21 DM1 patients (pediatric onset: N = 9; adult/lat …
OBJECTIVE: To characterize the progression of brain structural abnormalities in adults with pediatric and adult/late onset DM1 …
24 results