Circulating biomarkers in neuromuscular disorders: what is known, what is new

A Barp, A Ferrero, S Casagrande, R Morini… - Biomolecules, 2021 - mdpi.com
The urgent need for new therapies for some devastating neuromuscular diseases (NMDs),
such as Duchenne muscular dystrophy or amyotrophic lateral sclerosis, has led to an …

Proteomic profiling of impaired excitation–contraction coupling and abnormal calcium handling in muscular dystrophy

P Dowling, S Gargan, D Swandulla, K Ohlendieck - Proteomics, 2022 - Wiley Online Library
The X‐linked inherited neuromuscular disorder Duchenne muscular dystrophy is
characterised by primary abnormalities in the membrane cytoskeletal component dystrophin …

Modulating fast skeletal muscle contraction protects skeletal muscle in animal models of Duchenne muscular dystrophy

AJ Russell, M DuVall, B Barthel, Y Qian… - The Journal of …, 2023 - Am Soc Clin Investig
Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by absence of the
protein dystrophin, which acts as a structural link between the basal lamina and contractile …

N-terminal titin fragment: a non-invasive, pharmacodynamic biomarker for microdystrophin efficacy

JF Boehler, KJ Brown, V Ricotti, CA Morris - Skeletal Muscle, 2024 - Springer
Background Multiple clinical trials to assess the efficacy of AAV-directed gene transfer in
participants with Duchenne muscular dystrophy (DMD) are ongoing. The success of these …

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls

F Magri, L Napoli, M Ripolone, P Ciscato… - International Journal of …, 2023 - mdpi.com
Limb girdle muscular dystrophies (LGMDs) are a group of genetically inherited
neuromuscular diseases with a very variable clinical presentation and overlapping traits …

[HTML][HTML] Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy

DO Riddell, JCW Hildyard, RCM Harron… - Wellcome Open …, 2021 - ncbi.nlm.nih.gov
Background: Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease
caused by mutations in the dystrophin gene. Due to their phenotypic similarity to human …

Eccentric contraction-induced strength loss in dystrophin-deficient muscle: Preparations, protocols, and mechanisms

L Kiriaev, CW Baumann, A Lindsay - Journal of General Physiology, 2023 - rupress.org
The absence of dystrophin hypersensitizes skeletal muscle of lower and higher vertebrates
to eccentric contraction (ECC)-induced strength loss. Loss of strength can be accompanied …

Circulating skeletal troponin during weaning from mechanical ventilation and their association to diaphragmatic function: a pilot study

S Spadaro, F Dalla Corte, G Scaramuzzo… - Frontiers in …, 2021 - frontiersin.org
Background: Patients with acute respiratory failure (ARF) may need mechanical ventilation
(MV), which can lead to diaphragmatic dysfunction and muscle wasting, thus making difficult …

Therapeutic advances in neuromuscular diseases in 2023

J Vissing - The Lancet Neurology, 2024 - thelancet.com
Many of the almost 1000 different neuromuscular diseases are hereditary, and development
of nextgeneration sequencing has been important for improving diagnosis and …

Sleep research in 2023: beyond the bare necessities

F Provini - The Lancet Neurology, 2024 - thelancet.com
Sleep of sufficient quality and duration is essential for good health and reduces the risk of
cardiometabolic diseases, cerebrovascular diseases, and dementia. In experimental …