Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy. [PDF]
Front Cardiovasc Med, 2022 Ronderos-Botero DM +3 more
europepmc +1 more source
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients. [PDF]
Neurol Genetvan Kleef ESB +11 more
europepmc +1 more source
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy. [PDF]
Acta Neuropathol Commun, 2022 Ranu N +22 more
europepmc +1 more source
α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
, 2021 Sulaiman Almobarak +4 more
openalex +1 more source
Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome. [PDF]
Intern MedHamaguchi T +7 more
europepmc +1 more source
Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits. [PDF]
Int J Mol Sci, 2022 Lindqvist J +7 more
europepmc +1 more source
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance
, 2017 Akinori Uruha, Olivier Benvéniste
openalex +2 more sources
Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining. [PDF]
Neurol Neuroimmunol Neuroinflamm, 2022 Zhao B +11 more
europepmc +1 more source
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods
, 2017 Sandra Donkervoort +16 more
openalex +1 more source