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 …
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
The X‐linked inherited neuromuscular disorder Duchenne muscular dystrophy is
characterised by primary abnormalities in the membrane cytoskeletal component dystrophin …
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
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 …
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 …
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 …
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 …
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
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 …
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 …
(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 …
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 …
cardiometabolic diseases, cerebrovascular diseases, and dementia. In experimental …