Molecular and cellular basis of genetically inherited skeletal muscle disorders
JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …
Genetic therapy for congenital myopathies
N Maani, S Karolczak, JJ Dowling - Current Opinion in Neurology, 2021 - journals.lww.com
Genetic therapy for congenital myopathies : Current Opinion in Neurology Genetic therapy for
congenital myopathies : Current Opinion in Neurology Log in or Register Subscribe to …
congenital myopathies : Current Opinion in Neurology Log in or Register Subscribe to …
Pharmacological Inhibition of myostatin in a mouse model of typical nemaline myopathy increases muscle size and force
J Lindqvist, H Granzier - International Journal of Molecular Sciences, 2023 - mdpi.com
Nemaline myopathy is one of the most common non-dystrophic congenital myopathies.
Individuals affected by this condition experience muscle weakness and muscle smallness …
Individuals affected by this condition experience muscle weakness and muscle smallness …
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in
physiological processes such as regulating thin filament length (TFL), cross-bridge cycling …
physiological processes such as regulating thin filament length (TFL), cross-bridge cycling …
The effect of muscle ultrastructure on the force, displacement and work capacity of skeletal muscle
Skeletal muscle powers animal movement through interactions between the contractile
proteins, actin and myosin. Structural variation contributes greatly to the variation in …
proteins, actin and myosin. Structural variation contributes greatly to the variation in …
Removal of MuRF1 increases muscle mass in nemaline myopathy models, but does not provide functional benefits
J Lindqvist, J Kolb, J de Winter, P Tonino… - International journal of …, 2022 - mdpi.com
Nemaline myopathy (NM) is characterized by skeletal muscle weakness and atrophy. No
curative treatments exist for this debilitating disease. NM is caused by mutations in proteins …
curative treatments exist for this debilitating disease. NM is caused by mutations in proteins …
Characterization of NEB mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in
physiological processes such as regulating thin filament length (TFL), cross-bridge cycling …
physiological processes such as regulating thin filament length (TFL), cross-bridge cycling …
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
L Sagath, VL Lehtokari, C Wallgren-Pettersson, K Pelin… - Plos one, 2022 - journals.plos.org
The human genome contains repetitive regions, such as segmental duplications, known to
be prone to copy number variation. Segmental duplications are highly identical and …
be prone to copy number variation. Segmental duplications are highly identical and …
Nebulin: Size matters for optimal muscle function
K Pelin - Journal of General Physiology, 2021 - rupress.org
Nebulin: Size matters for optimal muscle function | Journal of General Physiology |
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Toward an understanding of myofibrillar function in health and disease
RL Moss, C Cremo, HL Granzier - 2021 - rupress.org
Toward an understanding of myofibrillar function in health and disease | Journal of General
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