Results 31 to 40 of about 2,985,698 (230)

Core Clinical Phenotypes in Myotonic Dystrophies

Frontiers in Neurology, 2018
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in ...
Stephan Wenninger, Federica Montagnese, Benedikt Schoser   +2 more
doaj   +1 more source

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

A trigger-happy soldier with bilateral ptosis and dysphagia

Biomedical Journal, 2015
Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
doaj   +1 more source

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins [PDF]

, 2014
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins ...
Cabecinha, M, Clayton, EL, Cleverley, K, Devoy, A, Dols, J, Fisher, EMC, Fratta, P, Grönke, S, Hendrich, O, Isaacs, AM, Mizielinska, S, Moens, T, Niccoli, T, Nicoll, AJ, Norona, FE, Partridge, L, Pickering-Brown, S, Pietrzyk, J, Ridler, CE, Woollacott, IOC   +19 more
core   +1 more source

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Neuroepidemiology, 2022
Introduction: Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited neuromuscular disorders characterized by progressive muscle weakness, myotonia, and cardiac conduction abnormalities.
Q. Liao, Yihao Zhang, Jian He, Kun-yun Huang   +3 more
semanticscholar   +1 more source

Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia

BMC Neurology, 2021
Background Sarcopenia is the age-related loss of muscle mass and strength. Undiagnosed late-onset neuromuscular disorders need to be considered in the differential diagnosis of sarcopenia.
Fabian Hofmeister, Lisa Baber, Uta Ferrari, Stefan Hintze, Stefanie Jarmusch, Sabine Krause, Peter Meinke, Stefan Mehaffey, Carl Neuerburg, Fabiana Tangenelli, Benedikt Schoser, Michael Drey   +11 more
doaj   +1 more source

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2009
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett, Donaghy, Farmer, Forst, Forst, Geboers, Geboers, Geboers, Germain, Hove, Hyde, Jadad, Jaivin, Kooi, Kooi, Kooi, Kooi, Lindeman, Manzur, Manzur, Matjaic, McDonald, Olsen, Refshauge, Richardson, Rideau, Rozier, Sackley, Tropp, Tulder, Turner-Stokes, Vigasio, Wiesinger, Wiesseman   +33 more
core   +1 more source

Current Progress in CNS Imaging of Myotonic Dystrophy

Frontiers in Neurology, 2018
Neuroimaging in myotonic dystrophies provided a major contribution to the insight into brain involvement which is highly prevalent in these multisystemic disorders.
Martina Minnerop, Martina Minnerop, Carla Gliem, Cornelia Kornblum, Cornelia Kornblum   +4 more
doaj   +1 more source

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome, [PDF]

Anais Brasileiros de Dermatologia, 2020
Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple ...
Ana Laura Andrade Bueno, Maria Emilia Vieira de Souza, Carla Graziadio, Ana Elisa Kiszewski   +3 more
doaj   +1 more source