[HTML][HTML] Management of arthrofibrosis in neuromuscular disorders: a review

E Martinez-Lozano, I Beeram, D Yeritsyan… - BMC Musculoskeletal …, 2022 - Springer
Arthrofibrosis, or rigid contracture of major articular joints, is a significant morbidity of many
neurodegenerative disorders. The pathogenesis depends on the mechanism and severity of …

[HTML][HTML] Implications of notch signaling in duchenne muscular dystrophy

L Den Hartog, A Asakura - Frontiers in Physiology, 2022 - frontiersin.org
This review focuses upon the implications of the Notch signaling pathway in muscular
dystrophies, particularly Duchenne muscular dystrophy (DMD): a pervasive and catastrophic …

The validity of the International Physical Activity Questionnaire (IPAQ) for adults with progressive muscle diseases

SF Roberts-Lewis, CM White, M Ashworth… - Disability and …, 2022 - Taylor & Francis
Purpose Measuring the physical activity of adults with progressive muscle diseases is
important to inform clinical practice, for activity recommendations and for outcomes …

[HTML][HTML] Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism

M Tavasoli, S Lahire, S Sokolenko… - Nature …, 2022 - nature.com
CHKB encodes one of two mammalian choline kinase enzymes that catalyze the first step in
the synthesis of the membrane phospholipid phosphatidylcholine. In humans and mice …

Simultaneous detection of thirteen exons of dystrophin gene by optimized multiplex PCR assay to screen Duchenne/Becker muscular dystrophy

PG Trivedi, J Gajera, FI Ghanchi… - Indian Journal of …, 2022 - op.niscpr.res.in
Abstract Advancements in Polymerase Chain Reaction (PCR) technology and other
techniques like Deoxyribonucleic acid (DNA) signal and target amplification have become …

[HTML][HTML] Ayurvedic management in limb girdle muscular dystrophy–A case report

K Rajoria, SK Singh, S Dadhich - Journal of Ayurveda and integrative …, 2022 - Elsevier
Limb girdle muscular dystrophy (LGMD) is a type of Muscular dystrophy (MD),
heterogeneous devastating complex genetic disorders causing progressive weakness and …

[HTML][HTML] Beyond Mendelian inheritance: Genetic buffering and phenotype variability

A Rossi, Z Kontarakis - Phenomics, 2022 - Springer
Understanding the way genes work amongst individuals and across generations to shape
form and function is a common theme for many genetic studies. The recent advances in …

High-Throughput Screening to Identify Modulators of Sarcospan

C Shu, E Mokhonova, RH Crosbie - Muscular Dystrophy Therapeutics …, 2022 - Springer
High-throughput screening enables the discovery of disease-modifying small molecules.
Here, we describe the development of a scalable, cell-based assay to screen for small …

Regenerative Rehabilitation for Nonlethal Muscular Dystrophies

JA Roche - Regenerative Rehabilitation: From Basic Science to the …, 2022 - Springer
The muscular dystrophies are a group of inherited conditions that are associated with
progressive weakness and wasting of muscle tissue. Muscular dystrophies are placed under …

Inherited myopathies in the Middle East and North Africa

K Rochdi, A Barakat, R Saile - Gene Reports, 2022 - Elsevier
Myopathies are genetically inherited muscle degenerative disorders that mainly cause
muscle weakness and a more or less marked muscle wasting (atrophy), although rare but …