[HTML][HTML] Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb… - Nature …, 2020 - nature.com
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle
sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical …

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.

J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb… - Nature …, 2020 - europepmc.org
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle
sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical …

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

J Lindqvist, W Ma, F Li, Y Hernandez… - Nature …, 2020 - pubmed.ncbi.nlm.nih.gov
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle
sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical …

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.

J Lindqvist, W Ma, F Li, Y Hernandez… - Nature …, 2020 - search.ebscohost.com
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle
sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical …

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb, B Kiss… - 2020 - repository.arizona.edu
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle
sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical …

[PDF][PDF] Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb, B Kiss… - academia.edu
A mouse model was created with a c. 19097G> T mutation in the NEB gene that results in a
serine to isoleucine substitution at the position corresponding to human Ser6366 in nebulin …

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

J Lindqvist, W Ma, F Li, Y Hernandez… - Nature …, 2020 - ui.adsabs.harvard.edu
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle
sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical …

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb… - Nature …, 2020 - ideas.repec.org
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle
sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical …

Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb… - Nature …, 2020 - osti.gov
Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle
sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical …

[PDF][PDF] Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

J Lindqvist, W Ma, F Li, Y Hernandez, J Kolb, B Kiss… - researchgate.net
A mouse model was created with a c. 19097G> T mutation in the NEB gene that results in a
serine to isoleucine substitution at the position corresponding to human Ser6366 in nebulin …