PubRank

Nigel G Laing

Author PubWeight™ 75.19‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 2007 2.00
2 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
3 The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord 2009 1.70
4 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 2008 1.65
5 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat 2006 1.61
6 Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. Gastroenterology 2012 1.57
7 Myosin storage (hyaline body) myopathy: a case report. Neuromuscul Disord 2006 1.55
8 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord 2004 1.52
9 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
10 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 2013 1.46
11 Actin-related myopathy without any missense mutation in the ACTA1 gene. J Child Neurol 2004 1.42
12 Nemaline myopathies. Semin Pediatr Neurol 2011 1.40
13 Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol 2008 1.39
14 Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010 1.38
15 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014 1.24
16 Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2003 1.23
17 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
18 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol 2004 1.13
19 KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest 2014 1.13
20 Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 2004 1.10
21 Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet 2011 1.09
22 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
23 Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain 2011 1.08
24 Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat 2014 1.06
25 Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. J Cell Sci 2004 1.06
26 Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms. Acta Neuropathol 2012 1.05
27 Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system. Cell Motil Cytoskeleton 2007 1.04
28 Distal myopathies. Curr Opin Neurol 2005 1.04
29 Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol 2007 1.02
30 Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. J Cell Biol 2009 0.99
31 Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet 2008 0.99
32 Evidence of altered guinea pig ventricular cardiomyocyte protein expression and growth in response to a 5 min in vitro exposure to H(2)O(2). J Proteome Res 2010 0.97
33 Fetal akinesia: review of the genetics of the neuromuscular causes. J Med Genet 2011 0.96
34 Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. Neuromuscul Disord 2006 0.95
35 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 2014 0.95
36 Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. Am J Hum Genet 2013 0.94
37 Myopathies resulting from mutations in sarcomeric proteins. Curr Opin Neurol 2004 0.93
38 Consensus statement on standard of care for congenital myopathies. J Child Neurol 2012 0.92
39 An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Ann Neurol 2005 0.91
40 K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain 2013 0.90
41 Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. J Neuropathol Exp Neurol 2008 0.89
42 Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve 2010 0.89
43 A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscul Disord 2013 0.89
44 Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat 2014 0.88
45 Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. Biochem J 2012 0.88
46 Investigation of changes in skeletal muscle alpha-actin expression in normal and pathological human and mouse hearts. J Muscle Res Cell Motil 2010 0.86
47 Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). Neuromuscul Disord 2006 0.85
48 Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. Neuromuscul Disord 2006 0.85
49 Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathol 2015 0.85
50 Novel application of flow cytometry: determination of muscle fiber types and protein levels in whole murine skeletal muscles and heart. Cell Motil Cytoskeleton 2007 0.84
51 Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression. PLoS One 2011 0.84
52 Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases--quantification of striated alpha-actins by MRM-mass spectrometry. Neuromuscul Disord 2008 0.84
53 138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands. Neuromuscul Disord 2005 0.83
54 Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression. Hum Mutat 2004 0.83
55 Production of human skeletal alpha-actin proteins by the baculovirus expression system. Biochem Biophys Res Commun 2003 0.83
56 Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. PLoS One 2012 0.82
57 Actinopathies and myosinopathies. Brain Pathol 2009 0.81
58 Skeletal muscle alpha-actin diseases. Adv Exp Med Biol 2008 0.81
59 Clinical utility gene card for: nemaline myopathy. Eur J Hum Genet 2012 0.81
60 A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance. Neuromuscul Disord 2010 0.81
61 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2015 0.80
62 Effectiveness of posthumous molecular diagnosis from a kept baby tooth. Lancet 2005 0.80
63 Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy. J Muscle Res Cell Motil 2009 0.79
64 Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. Neuromuscul Disord 2012 0.79
65 Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex. J Neuroimmunol 2011 0.79
66 Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production. Hum Mol Genet 2013 0.78
67 Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation. Neuromuscul Disord 2010 0.77
68 Novel CHKB mutation expands the megaconial muscular dystrophy phenotype. Muscle Nerve 2014 0.77
69 A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis. Neuroepidemiology 2003 0.77
70 Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy. J Child Neurol 2006 0.77
71 Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis. J Neuroimmunol 2012 0.77
72 Cardiac α-actin over-expression therapy in dominant ACTA1 disease. Hum Mol Genet 2013 0.76
73 109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. Neuromuscul Disord 2003 0.76
74 Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene. J Child Neurol 2005 0.75
75 Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. Neuromuscul Disord 2011 0.75