Results 51 to 60 of about 29,255 (302)

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

A Poglut1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss [PDF]

, 2016
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we identified a missense mutation in ...
Cabrera Serrano, Macarena, Fernández-Chacón, Rafael, Gómez-Sánchez, Leonardo, Nieto González, José Luis, Rivero, María C, Servián Morilla, Emilia   +5 more
core   +1 more source

Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow, Nicola McKern, Vincent Oxenham, Kate Ahmad, Omar Ahmad   +4 more
wiley   +1 more source

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells [PDF]

, 2016
A number of microRNAs have been shown to regulate skeletal muscle development and differentiation. MicroRNA-222 is downregulated during myogenic differentiation and its overexpression leads to alteration of muscle differentiation process and specialized ...
Cappella, Marisa, Cardinali, B., Cittaro, D., Falcone, G., Garcia Manteiga, J. M., Lazarevic, D., Martelli, F, Provenzano, C.   +7 more
core   +2 more sources

The muscular dystrophies [PDF]

Postgraduate Medical Journal, 1992
In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal ...
openaire   +2 more sources

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystrophy

Nature Communications, 2022
Boyer et al. created genetic mouse models of muscular dystrophy in which satellite cells were selectively depleted. The depletion of satellite cells at select times was protective.
Justin G. Boyer, Jiuzhou Huo, Sarah Han, Julian R. Havens, Vikram Prasad, Brian L. Lin, David A. Kass, Taejeong Song, Sakthivel Sadayappan, Ramzi J. Khairallah, Christopher W. Ward, Jeffery D. Molkentin   +11 more
doaj   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]

, 2015
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
Back, Willem, Bastiaansen, John WM, Boegheim, Iris JM, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter AJ, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van Steenbeek, Frank G, Vos-Loohuis, Manon   +11 more
core   +3 more sources

Facioscapulohumeral Muscular Dystrophy

Continuum, 2022
This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.FSHD has a wide range of severity, yet a distinct phenotype characterized by weakness of the facial, shoulder, and upper arm muscles, followed by weakness ...
Mul, K., Mul, K.
openaire   +3 more sources