scholarly article | Q13442814 |
P50 | author | H.L. Granzier | Q67484897 |
P2093 | author name string | Jeffrey S Chamberlain | |
Frank Li | |||
John E Smith | |||
Justin Kolb | |||
Zaynab Hourani | |||
Julie Crudele | |||
P2860 | cites work | Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy | Q22010602 |
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1 | Q24290127 | ||
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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy | Q24309236 | ||
The complete primary structure of human nebulin and its correlation to muscle structure | Q24316629 | ||
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2 | Q24329180 | ||
Viral mediated expression of insulin-like growth factor I blocks the aging-related loss of skeletal muscle function | Q24642759 | ||
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy | Q24649442 | ||
Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle | Q24683625 | ||
NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY | Q28156067 | ||
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy | Q28209824 | ||
The vertebrate muscle Z-disc: sarcomere anchor for structure and signalling | Q28261484 | ||
Evidence that nebulin is a protein-ruler in muscle thin filaments | Q28278748 | ||
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy | Q28299243 | ||
BTB-Kelch protein Krp1 regulates proliferation and differentiation of myoblasts | Q28505113 | ||
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy | Q29147433 | ||
The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse. | Q30009559 | ||
Nebulin plays a direct role in promoting strong actin-myosin interactions | Q33613267 | ||
Reduced myofibrillar connectivity and increased Z-disk width in nebulin-deficient skeletal muscle | Q33629146 | ||
Effect of genome size on AAV vector packaging | Q33730405 | ||
Differential splicing of the large sarcomeric protein nebulin during skeletal muscle development | Q33798229 | ||
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). | Q33798635 | ||
KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination. | Q41560314 | ||
Sudden cardiac arrest in a child with nemaline myopathy. | Q42127794 | ||
Modulation of muscle atrophy, fatigue and MLC phosphorylation by MuRF1 as indicated by hindlimb suspension studies on MuRF1-KO mice | Q42277255 | ||
Design and testing of regulatory cassettes for optimal activity in skeletal and cardiac muscles | Q44354024 | ||
Vertical agarose gel electrophoresis and electroblotting of high-molecular-weight proteins | Q44463543 | ||
AAV6 Vector Production and Purification for Muscle Gene Therapy | Q45873577 | ||
Electrophoretic separation of rat skeletal muscle myosin heavy-chain isoforms. | Q45940714 | ||
Relationship between muscle fiber types and sizes and muscle architectural properties in the mouse hindlimb | Q46864051 | ||
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. | Q47265892 | ||
Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. | Q52088534 | ||
Myocyte enhancer factor 2A promotes proliferation and its inhibition attenuates myogenic differentiation via myozenin 2 in bovine skeletal muscle myoblast. | Q52561235 | ||
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. | Q55268192 | ||
Nebulin increases thin filament stiffness and force per cross-bridge in slow-twitch soleus muscle fibers | Q57290201 | ||
In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype | Q58087527 | ||
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy | Q58185608 | ||
Nebulin mutations in autosomal recessive nemaline myopathy: an update | Q58185618 | ||
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy | Q58424676 | ||
Definition of an efficient synthetic poly(A) site | Q69373727 | ||
Nebulin as a giant actin-binding template protein in skeletal muscle sarcomere. Interaction of actin and cloned human nebulin fragments | Q70138922 | ||
Fast to slow change of myosin in nemaline myopathy: electrophoretic and immunologic evidence | Q70671774 | ||
Purification of titin and nebulin | Q71861591 | ||
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy | Q86669246 | ||
Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse | Q90824759 | ||
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene | Q91208579 | ||
Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy | Q91250927 | ||
A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region | Q91846987 | ||
Nebulin and titin modulate cross-bridge cycling and length-dependent calcium sensitivity | Q92858875 | ||
Nemaline myopathies: a current view | Q92950622 | ||
Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy | Q93102413 | ||
Nebulin regulates actin filament lengths by a stabilization mechanism. | Q33886832 | ||
New insights into the structural roles of nebulin in skeletal muscle | Q33889567 | ||
Expression and purification of large nebulin fragments and their interaction with actin. | Q34167122 | ||
Nemaline myopathies. | Q34240917 | ||
Impact of viral-mediated IGF-I gene transfer on skeletal muscle following cast immobilization | Q34305212 | ||
Myosin isoforms in mammalian skeletal muscle | Q34328366 | ||
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations | Q34338251 | ||
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments | Q34343417 | ||
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores | Q34381793 | ||
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy | Q34482872 | ||
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. | Q34528684 | ||
Nebulin, a major player in muscle health and disease | Q34592389 | ||
Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency | Q34598238 | ||
Selective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy. | Q34766977 | ||
Muscle giants: molecular scaffolds in sarcomerogenesis | Q34793699 | ||
Mutation update: the spectra of nebulin variants and associated myopathies | Q34973783 | ||
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy | Q35166263 | ||
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. | Q35576373 | ||
The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization | Q35778626 | ||
Altered contractility of skeletal muscle in mice deficient in titin's M-band region | Q36164355 | ||
Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options | Q36332356 | ||
Nebulin as a length regulator of thin filaments of vertebrate skeletal muscles: correlation of thin filament length, nebulin size, and epitope profile | Q36532856 | ||
Sarcoplasmic reticulum calcium uptake and speed of relaxation are depressed in nebulin-free skeletal muscle | Q36804918 | ||
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy | Q36904903 | ||
Calsarcin-2 deficiency increases exercise capacity in mice through calcineurin/NFAT activation | Q36930240 | ||
Recombinant adeno-associated virus transduction and integration | Q36953325 | ||
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy | Q37010363 | ||
Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. | Q37198630 | ||
Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost | Q37431381 | ||
A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy. | Q37589691 | ||
Fiber types in mammalian skeletal muscles | Q37947567 | ||
Clinical approach to the diagnosis of congenital myopathies | Q37968740 | ||
A two-segment model for thin filament architecture in skeletal muscle | Q38072662 | ||
Muscle LIM Protein: Master regulator of cardiac and skeletal muscle functions. | Q38456293 | ||
Viral vector-mediated gene therapies | Q38564564 | ||
Overview of the Muscle Cytoskeleton | Q39391006 | ||
P4510 | describes a project that uses | ImageJ | Q1659584 |
P433 | issue | 1 | |
P304 | page(s) | 2 | |
P577 | publication date | 2020-01-28 | |
P1433 | published in | Skeletal Muscle | Q27723741 |
P1476 | title | Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function | |
P478 | volume | 10 |
Q92088265 | Correction to: Expressing a Z-disk nebulin fragment innebulin-deficient mouse muscle: effects on muscle structure and function | cites work | P2860 |
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