Published in Ann Neurol on January 01, 2005
New insights into the regulation of the actin cytoskeleton by tropomyosin. Int Rev Cell Mol Biol (2010) 1.28
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet (2011) 1.16
Skeletal muscle repair in a mouse model of nemaline myopathy. Hum Mol Genet (2006) 0.95
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. J Neuropathol Exp Neurol (2008) 0.89
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain (2014) 0.86
Striated muscle tropomyosin isoforms differentially regulate cardiac performance and myofilament calcium sensitivity. J Muscle Res Cell Motil (2010) 0.83
Polymorphism in tropomyosin structure and function. J Muscle Res Cell Motil (2013) 0.79
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Hum Mol Genet (2015) 0.78
Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy. PLoS One (2014) 0.77
Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures. PLoS One (2013) 0.77
Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A (2007) 3.72
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet (2007) 2.96
Tropomyosin isoforms: divining rods for actin cytoskeleton function. Trends Cell Biol (2005) 2.45
A molecular pathway for myosin II recruitment to stress fibers. Curr Biol (2011) 2.25
Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord (2007) 2.00
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology (2005) 1.98
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. J Cell Biol (2009) 1.87
A systematic nomenclature for mammalian tropomyosin isoforms. J Muscle Res Cell Motil (2014) 1.77
Alterations in gamma-actin and tubulin-targeted drug resistance in childhood leukemia. J Natl Cancer Inst (2006) 1.76
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet (2006) 1.73
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord (2009) 1.70
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet (2008) 1.65
Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort. J Pediatr Orthop (2007) 1.64
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet (2008) 1.62
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. Gastroenterology (2012) 1.57
Myosin storage (hyaline body) myopathy: a case report. Neuromuscul Disord (2006) 1.55
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord (2004) 1.52
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet (2013) 1.51
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet (2004) 1.51
Specification of actin filament function and molecular composition by tropomyosin isoforms. Mol Biol Cell (2003) 1.51
Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly. J Biol Chem (2006) 1.50
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet (2004) 1.50
Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1. Dev Med Child Neurol (2014) 1.50
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge. Am J Med Genet A (2013) 1.43
Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Dev Med Child Neurol (2006) 1.42
Actin-related myopathy without any missense mutation in the ACTA1 gene. J Child Neurol (2004) 1.42
Dysfunction induced by ischemia versus edema: does edema matter? J Thorac Cardiovasc Surg (2009) 1.42
A gene for speed? The evolution and function of alpha-actinin-3. Bioessays (2004) 1.42
Nemaline myopathies. Semin Pediatr Neurol (2011) 1.40
Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol (2008) 1.39
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet (2010) 1.38
Tropomyosin isoforms and reagents. Bioarchitecture (2011) 1.37
Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families. Mov Disord (2007) 1.32
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol (2006) 1.32
Genes and human elite athletic performance. Hum Genet (2005) 1.28
Tropomyosin isoform expression regulates the transition of adhesions to determine cell speed and direction. Mol Cell Biol (2009) 1.26
ACTN3: A genetic influence on muscle function and athletic performance. Exerc Sport Sci Rev (2007) 1.26
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord (2003) 1.23
Single section Western blot: improving the molecular diagnosis of the muscular dystrophies. Neurology (2003) 1.22
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. J Neuropathol Exp Neurol (2011) 1.21
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy. J Cell Biol (2008) 1.21
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet (2013) 1.20
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet (2008) 1.20
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord (2007) 1.19
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat (2010) 1.17
Tissue-specific tropomyosin isoform composition. J Histochem Cytochem (2005) 1.17
Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Traffic (2011) 1.15
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol (2007) 1.15
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol (2008) 1.14
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet (2005) 1.14
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol (2004) 1.13
A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism. Physiology (Bethesda) (2010) 1.13
Genes for elite power and sprint performance: ACTN3 leads the way. Sports Med (2013) 1.13
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest (2014) 1.13
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord (2004) 1.10
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet (2011) 1.09
Targeting of a tropomyosin isoform to short microfilaments associated with the Golgi complex. Mol Biol Cell (2003) 1.08
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest (2013) 1.08
Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development. Gene Expr Patterns (2006) 1.08
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Hum Mol Genet (2004) 1.08
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain (2011) 1.08
Congenital fiber type disproportion--30 years on. J Neuropathol Exp Neurol (2003) 1.07
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair. J Neurosci (2013) 1.07
Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord (2008) 1.07
Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior. Child Neuropsychol (2011) 1.06
Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons. J Child Neurol (2010) 1.06
Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat (2014) 1.06
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. J Cell Sci (2004) 1.06
γ-Actin regulates cell migration and modulates the ROCK signaling pathway. FASEB J (2011) 1.05
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms. Acta Neuropathol (2012) 1.05
Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy. Int J Exp Pathol (2010) 1.05
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscul Disord (2007) 1.05
Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol (2004) 1.04
Distal myopathies. Curr Opin Neurol (2005) 1.04