Results 161 to 170 of about 5,338 (235)

Mutations in the Large Protein Nebulin Trigger Typical Nemaline Myopathy with a Unique Molecular Mechanism [PDF]

open access: bronze, 2020
Johan Lindqvist   +13 more
openalex   +1 more source

LIM and SH3 protein 2 (Lasp2) is a novel pregnane X receptor target gene in mouse liver. [PDF]

open access: yesMol Pharmacol
Konzack A   +9 more
europepmc   +1 more source

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

open access: yes, 2016
Allen, Kenneth P.   +11 more
core   +1 more source

The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

open access: green, 2009
Vilma‐Lotta Lehtokari   +7 more
openalex   +1 more source

Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. [PDF]

open access: yesHum Mol Genet
Fabian L   +6 more
europepmc   +1 more source

Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle [PDF]

open access: gold
Jenni Laitila   +12 more
openalex   +3 more sources

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. [PDF]

open access: yesActa Neuropathol
Karimi E   +9 more
europepmc   +1 more source

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