Associated Papers
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Hildebrandt C et al.
Neurology. Genetics, 2025
40661861 (PubMed )
Supplement: Supplements.pdf
Congenital myopathies: pathophysiological mechanisms and promising therapies.
Zhang H et al.
Journal of Translational Medicine, 2024
Muscle cofilin alters neuromuscular junction postsynaptic development to strengthen functional neurotransmission.
Christophers B et al.
Biorxiv : the Preprint Server for Biology, 2023
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.
Rosen SM et al.
Human Molecular Genetics, 2020
Expanding the histopathological spectrum of CFL2-related myopathies.
Fattori F et al.
Clinical Genetics, 2018
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.
Ong RW et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Congenital myopathy caused by a novel missense mutation in the CFL2 gene.
Ockeloen CW et al.
Neuromuscular Disorders : Nmd, 2012
Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle.
Papalouka V et al.
Molecular and Cellular Biology, 2009
161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.
Laing NG et al.
Neuromuscular Disorders : Nmd, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Investigations into the pathobiology of thin-filament myopathies.
Ilkovski B
Advances in Experimental Medicine and Biology, 2008
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
Agrawal PB et al.
American Journal of Human Genetics, 2007
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