PubRank

Kathryn N North

Author PubWeight™ 130.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A 2007 3.72
2 Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet 2007 2.96
3 The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 2005 1.98
4 MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. J Cell Biol 2009 1.87
5 Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort. J Pediatr Orthop 2007 1.64
6 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
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 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 2004 1.51
10 Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013 1.51
11 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
12 Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1. Dev Med Child Neurol 2014 1.50
13 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 2013 1.46
14 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
15 Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Dev Med Child Neurol 2006 1.42
16 Dysfunction induced by ischemia versus edema: does edema matter? J Thorac Cardiovasc Surg 2009 1.42
17 A gene for speed? The evolution and function of alpha-actinin-3. Bioessays 2004 1.42
18 Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol 2008 1.39
19 Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010 1.38
20 SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol 2006 1.32
21 Genes and human elite athletic performance. Hum Genet 2005 1.28
22 ACTN3: A genetic influence on muscle function and athletic performance. Exerc Sport Sci Rev 2007 1.26
23 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014 1.24
24 Single section Western blot: improving the molecular diagnosis of the muscular dystrophies. Neurology 2003 1.22
25 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
26 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
27 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
28 Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2007 1.19
29 Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 2010 1.17
30 Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Traffic 2011 1.15
31 Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol 2007 1.15
32 Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol 2008 1.14
33 Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet 2005 1.14
34 Genes for elite power and sprint performance: ACTN3 leads the way. Sports Med 2013 1.13
35 A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism. Physiology (Bethesda) 2010 1.13
36 ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest 2013 1.08
37 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
38 Congenital fiber type disproportion--30 years on. J Neuropathol Exp Neurol 2003 1.07
39 Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair. J Neurosci 2013 1.07
40 Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord 2008 1.07
41 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
42 Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons. J Child Neurol 2010 1.06
43 Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat 2014 1.06
44 Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy. Int J Exp Pathol 2010 1.05
45 Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscul Disord 2007 1.05
46 Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol 2004 1.04
47 Age-related findings on MRI in neurofibromatosis type 1. Pediatr Radiol 2006 1.01
48 Mechanisms underlying intranuclear rod formation. Brain 2007 1.01
49 Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord 2010 1.01
50 Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers. Med Sci Sports Exerc 2013 1.00
51 Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 2007 0.99
52 Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. J Child Neurol 2010 0.99
53 Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evol Biol 2010 0.99
54 Brain structure and function in neurofibromatosis type 1: current concepts and future directions. J Neurol Neurosurg Psychiatry 2010 0.98
55 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? PLoS One 2008 0.98
56 T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry 2007 0.98
57 Therapeutics for childhood neurofibromatosis type 1 and type 2. Curr Treat Options Neurol 2011 0.97
58 Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. PLoS One 2011 0.97
59 Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Hum Mol Genet 2011 0.97
60 Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscul Disord 2010 0.97
61 Fetal akinesia: review of the genetics of the neuromuscular causes. J Med Genet 2011 0.96
62 Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Hum Mol Genet 2010 0.96
63 ACTN3 allele frequency in humans covaries with global latitudinal gradient. PLoS One 2013 0.95
64 Cardiac aquaporin expression in humans, rats, and mice. Am J Physiol Heart Circ Physiol 2006 0.93
65 Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain 2011 0.92
66 The effect of α-actinin-3 deficiency on muscle aging. Exp Gerontol 2010 0.92
67 Reliability of quantifying foot and ankle muscle strength in very young children. Muscle Nerve 2008 0.92
68 Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy. J Biol Chem 2010 0.91
69 An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Ann Neurol 2005 0.91
70 Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle. Cell Motil Cytoskeleton 2008 0.91
71 The impact of ADHD on the cognitive and academic functioning of children with NF1. Dev Neuropsychol 2012 0.91
72 Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors. FEBS Lett 2010 0.90
73 Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. J Biol Chem 2010 0.90
74 K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain 2013 0.90
75 Interventions for increasing ankle range of motion in patients with neuromuscular disease. Cochrane Database Syst Rev 2010 0.89
76 The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. J Neuropathol Exp Neurol 2005 0.89
77 Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. J Neuropathol Exp Neurol 2008 0.89
78 Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain 2012 0.89
79 A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscul Disord 2013 0.89
80 Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice. Muscle Nerve 2010 0.88
81 Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat 2014 0.88
82 Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Ann Neurol 2007 0.88
83 Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscul Disord 2009 0.88
84 Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul Disord 2005 0.88
85 The cognitive profile of preschool-aged children with neurofibromatosis type 1. Child Neuropsychol 2010 0.88
86 α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone 2011 0.88
87 Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A. J Child Neurol 2009 0.87
88 The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins. Bioessays 2010 0.86
89 Myocardial water handling and the role of aquaporins. Biochim Biophys Acta 2006 0.85
90 Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Acta Neuropathol 2008 0.85
91 Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscul Disord 2007 0.85
92 Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a. BMC Musculoskelet Disord 2009 0.85
93 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
94 The genetic and neuroanatomical basis of social dysfunction: lessons from neurofibromatosis type 1. Hum Brain Mapp 2013 0.85
95 Back to the future: proceedings from the 2010 NF Conference. Am J Med Genet A 2010 0.84
96 Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscul Disord 2008 0.84
97 Health status of boys with Duchenne muscular dystrophy: a parent's perspective. J Paediatr Child Health 2011 0.83
98 Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial. J Physiother 2010 0.83
99 An examination of lexical and sublexical reading skills in children with neurofibromatosis type 1. Child Neuropsychol 2008 0.83
100 Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. Clin Chim Acta 2005 0.82
101 Treatment for plexiform neurofibromas in patients with NF1. Lancet Oncol 2012 0.82
102 In vitro analysis of rod composition and actin dynamics in inherited myopathies. J Neuropathol Exp Neurol 2010 0.81
103 Expression of aquaporin 1 in human cardiac and skeletal muscle. J Mol Cell Cardiol 2004 0.81
104 Myocardial membrane injury in pediatric cardiac surgery: An animal model. J Thorac Cardiovasc Surg 2009 0.81
105 Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials. J Neurol 2012 0.81
106 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2015 0.80
107 Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins. Mol Biol Evol 2009 0.80
108 Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: a pediatric animal model. J Thorac Cardiovasc Surg 2008 0.79
109 Mutations in TPM2 and congenital fibre type disproportion. Neuromuscul Disord 2012 0.79
110 NF1 is a critical regulator of muscle development and metabolism. Hum Mol Genet 2013 0.79
111 Social functioning in adults with neurofibromatosis type 1. Res Dev Disabil 2013 0.79
112 Cognitive features that distinguish preschool-age children with neurofibromatosis type 1 from their peers: a matched case-control study. J Pediatr 2013 0.78
113 Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord 2010 0.78
114 Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle Nerve 2011 0.78
115 Dietary L-tyrosine supplementation in nemaline myopathy. J Child Neurol 2007 0.78
116 A novel X-linked form of congenital fiber-type disproportion. Ann Neurol 2005 0.77
117 Feasibility of a computerized method to measure quality of "everyday" life in children with neuromuscular disorders. Phys Occup Ther Pediatr 2010 0.77
118 A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscul Disord 2011 0.77
119 Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscul Disord 2008 0.77
120 Longitudinal assessment of cognition and T2-hyperintensities in NF1: an 18-year study. Am J Med Genet A 2013 0.77
121 The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance. Med Sci Sports Exerc 2016 0.76
122 Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders. Neuromuscul Disord 2012 0.76
123 Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscul Disord 2011 0.76
124 The Future of Genomic Research in Athletic Performance and Adaptation to Training. Med Sport Sci 2016 0.76
125 Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle Nerve 2011 0.76
126 Relationship between foot strength and motor function in preschool-age children. Neuromuscul Disord 2008 0.76
127 Does attention-deficit-hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1? Dev Med Child Neurol 2012 0.75
128 Inherited neuromuscular disorders: pathway to diagnosis. J Paediatr Child Health 2011 0.75
129 A procedure for the computerized analysis of cleft palate speech transcription. Clin Linguist Phon 2011 0.75