Results 91 to 100 of about 39,875 (271)

Functional characterization of orbicularis oculi and extraocular muscles [PDF]

, 2016
The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Zorzato, Francesco, Sekulic-Jablanovic, M, Ullrich, Nina D., Zorzato, F, Goldblum, D, Sekulic-Jablanovic, Marijana, Goldblum, David, Treves, Susan, Palmowski-Wolfe, Anja, Ullrich, ND, Palmowski-Wolfe, A, Treves, S   +11 more
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Duchenne Muscular Dystrophy

Pediatric Neurology Briefs, 1989
The clinical progression and effects of therapy in 283 boys with Duchenne dystrophy and ten with Becker dystrophy followed for up to ten years in a collaborative study are reported from the Departments of Neurology and Biostatistics, Washington ...
J Gordon Millichap
doaj   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data

, 2006
Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer Emile J, Veronica Vinciotti, Xiaohui Liu, t' Hoen, PC, de Meijer, EJ, Emile J de Meijer, Rolf Turk, 't Hoen Peter AC, Turk, R, Peter AC 't Hoen, Vinciotti, V, Xiaohui, L, Vinciotti Veronica, Turk Rolf, Liu Xiaohui   +14 more
core   +1 more source

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F

Skeletal Muscle, 2017
Background Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin in the extracellular matrix ...
Angela K. Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L. Wang, Jim Heighway, Ramón M. Coral-Vázquez, Julio Vergara, Rachelle H. Crosbie-Watson   +9 more
doaj   +1 more source

Survival in Duchenne muscular dystrophy.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2012
To determine the survival in a population of German patients with Duchenne muscular dystrophy.Information about 94 patients born between 1970 and 1980 was obtained by telephone interviews and questionnaires. In addition to age of death or actual age during the investigation, data concerning clinical course and medical interventions were collected.67 ...
Rall, Susanne, Grimm, Tiemo
openaire   +2 more sources

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy

Orphanet Journal of Rare Diseases, 2017
Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capacity for endogenous nitric oxide synthesis ...
Cara A. Timpani, Alan Hayes, Emma Rybalka   +2 more
doaj   +1 more source

‘I Do Feel Some Level of Solidarity… in an Individual Way’: Disability Solidarity, Disability Identity and the Role of Social Services

Social Policy &Administration, EarlyView.
ABSTRACT Research on social policy and solidarity often highlights disability as a paradigmatic case of a ‘deserving’ group that warrants social support. However, this hierarchical view of solidarity frequently ignores the role of solidarity in the lived experiences and everyday practices of disabled people themselves.
Roni Holler, Efrat Keidar, Sagit Mor
wiley   +1 more source

Eteplirsen in the treatment of Duchenne muscular dystrophy

, 2017
Kenji Rowel Q Lim,1 Rika Maruyama,1 Toshifumi Yokota1,2 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada, HM Toupin Neurological Science ...
Lim KRQ, Maruyama R, Yokota T
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