Results 111 to 120 of about 19,684 (296)

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Cardiomyopathies and Arrythmias in Neuromuscular Diseases

Cardiogenetics
Neuromuscular diseases (NMDs) encompass various hereditary conditions affecting motor neurons, the neuromuscular junction, and skeletal muscles. These disorders are characterized by progressive muscle weakness and can manifest at different stages of life,
Giuseppe Sgarito, Calogero Volpe, Stefano Bardari, Raimondo Calvanese, Paolo China, Giosuè Mascioli, Martina Nesti, Carlo Pignalberi, Manlio Cipriani, Massimo Zecchin   +9 more
doaj   +1 more source

Dystrophin-related muscular dystrophies

, 1989
The gene for the locus involved in Duchenne and Becker muscular dystrophies has been cloned and subject to intense analysis. The protein product of the locus is called dystrophin, and it has been shown to be associated with the muscle fiber membrane. The
Witkowski, J. A.
core   +1 more source

Hydroxamic Acids as HDAC Inhibitor Drug Leads for Malaria

Medicinal Research Reviews, EarlyView.
ABSTRACT Malaria is a global health threat, with an estimated 282 million cases and 610,000 malaria‐associated deaths reported in 2024. Most mortality is due to infection by Plasmodium falciparum parasites, with the highest burden occurring in Sub‐Saharan Africa.
Wisam A. Dawood, Jacinta R. Macdonald, Christian Anzenhofer, Tina S. Skinner‐Adams, Robert C. Reid, Thomas Kurz, David P. Fairlie, Katherine T. Andrews   +7 more
wiley   +1 more source

Diagnosis, Pathogenesis and Treatment of Muscular Dystrophy

Biomedicines
Muscular dystrophies are a group of inherited genetic disorders that involve an ever-growing number of genes [...]
Manuela Bozzi
doaj   +1 more source

Muscular dystrophies and Ayurveda

Muscular dystrophies (MD) are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Becker Muscular Dystrophy (BMD) being a milder form of X-linked recessive dystrophy caused by a defect in the dystrophin gene.
Santosh N. Belavadi, Komal Gade
core   +1 more source

Hemodynamic Modeling and Phase‐Adjustable Reconstruction of Hyperpolarized Cardiac 13C MRS Using 1H Cine and ECG Timing

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To deconvolve cardiac phase and hemodynamic effects in hyperpolarized (HP) [1‐13C]pyruvate and to develop a cardiac phase‐adjustable reconstruction framework. Methods Cardiac phase drift during dynamic acquisition of HP 13C MRS and its effect on dynamic signal fidelity were simulated using a digital cardiac phantom. A hemodynamic model
Sung‐Han Lin, Corey Mozingo, Crystal E. Harrison, Kelley A. Derner, Craig R. Malloy, Jae Mo Park   +5 more
wiley   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Quantitative magnetic resonance imaging in muscular dystrophies [PDF]

, 2019
PhD ThesisMuscular dystrophies are rare diseases characterised by progressive muscle wasting and weakness. Putative therapies are being evaluated; the slowly progressive nature makes outcome measures difficult to design.
Murphy, Alexander Peter
core  

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)

, 2008
A number of muscular dystrophies are associated with the defective glycosylation of alpha-dystroglycan and many are now known to result from mutations in a number of genes encoding putative or known glycosyltransferases.
Bassett, D I, Lochmuller, H, Bushby, K, Straub, V, Thornhill, P   +4 more
core   +1 more source