Associated Papers
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients.
van Kleef ESB et al.
Neurology. Genetics, 2024
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
van Kleef ESB et al.
Journal of Neuromuscular Diseases, 2024
Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation.
Molenaar JP et al.
Neuromuscular Disorders : Nmd, 2023
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman K et al.
Journal of Neuropathology and Experimental Neurology, 2021
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands.
Neuhaus SB et al.
Neuromuscular Disorders : Nmd, 2020
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM et al.
The Journal of Clinical Investigation, 2020
KBTBD13 and the ever-expanding sarcomeric universe.
Campbell SG et al.
The Journal of Clinical Investigation, 2020
A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report.
Kang ZX et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Nemaline myopathies: a current view.
Sewry CA et al.
Journal of Muscle Research and Cell Motility, 2019
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Garibaldi M et al.
Acta Neuropathologica Communications, 2018
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N et al.
American Journal of Human Genetics, 2010