PubRank

Kate Bushby

Author PubWeight™ 123.96‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011 7.53
2 Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009 5.35
3 Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002 3.52
4 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007 2.88
5 Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009 2.38
6 SOX2 anophthalmia syndrome. Am J Med Genet A 2005 2.24
7 Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord 2007 1.80
8 The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat 2013 1.78
9 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry 2013 1.64
10 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat 2006 1.61
11 Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 2007 1.52
12 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 2008 1.52
13 Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 2005 1.46
14 AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J 2006 1.44
15 Limb-girdle muscular dystrophies. Curr Opin Neurol 2008 1.42
16 Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 2011 1.39
17 Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet 2009 1.37
18 Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem 2007 1.37
19 From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J 2007 1.34
20 Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord 2010 1.34
21 Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 2011 1.32
22 RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med 2014 1.30
23 New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry 2009 1.28
24 The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat 2015 1.26
25 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol 2003 1.26
26 Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord 2010 1.25
27 Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 2010 1.22
28 Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve 2010 1.21
29 Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve 2013 1.20
30 Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat 2003 1.20
31 Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 2004 1.20
32 Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord 2002 1.19
33 Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail 2009 1.19
34 Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 2010 1.17
35 Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol 2004 1.17
36 Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One 2013 1.16
37 Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord 2002 1.15
38 Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. Eur J Hum Genet 2005 1.15
39 Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 2012 1.15
40 Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One 2013 1.14
41 Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet 2005 1.14
42 MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise. J Magn Reson Imaging 2009 1.13
43 Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet 2008 1.12
44 The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis 2013 1.09
45 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. Neuromuscul Disord 2004 1.09
46 157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord 2008 1.08
47 Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain 2008 1.07
48 The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol 2006 1.05
49 Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months. Muscle Nerve 2013 1.05
50 Molecular treatments in Duchenne muscular dystrophy. Curr Opin Pharmacol 2010 1.04
51 Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. Neuromuscul Disord 2012 1.02
52 The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Hum Mutat 2005 1.01
53 Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004 1.01
54 Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol 2008 1.01
55 Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2004 0.99
56 A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease. Clin Rehabil 2013 0.99
57 Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? Neuromuscul Disord 2008 0.98
58 Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am 2012 0.98
59 In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet 2008 0.97
60 Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13. Ann Neurol 2002 0.96
61 Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol 2013 0.96
62 ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat 2013 0.95
63 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 2014 0.95
64 Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord 2013 0.93
65 Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromuscul Disord 2002 0.92
66 Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr 2013 0.92
67 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscul Disord 2010 0.91
68 Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Acta Neuropathol 2013 0.91
69 Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet 2013 0.91
70 Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle. Am J Pathol 2010 0.91
71 Reverse engineering gene network identifies new dysferlin-interacting proteins. J Biol Chem 2010 0.90
72 Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul Disord 2013 0.89
73 Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord 2008 0.88
74 Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 2012 0.88
75 Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. Neuromuscul Disord 2009 0.88
76 Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy. Eur J Heart Fail 2010 0.86
77 Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. Hum Mol Genet 2010 0.86
78 Continued need for caution in the diagnosis of Duchenne muscular dystrophy. Neurology 2005 0.86
79 Muscular dystrophy in dysferlin-deficient mouse models. Neuromuscul Disord 2013 0.86
80 Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency. Hum Mol Genet 2011 0.86
81 Standards of care for Duchenne muscular dystrophy: brief TREAT-NMD recommendations. Adv Exp Med Biol 2009 0.86
82 Endocrine aspects of Duchenne muscular dystrophy. Neuromuscul Disord 2011 0.85
83 Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Hum Mol Genet 2010 0.85
84 Survey of behaviour problems in children with neuromuscular diseases. Eur J Paediatr Neurol 2006 0.84
85 128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands. Neuromuscul Disord 2005 0.83
86 Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 2013 0.83
87 Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. Eur J Hum Genet 2011 0.82
88 Presymptomatic late-onset Pompe disease identified by the dried blood spot test. Neuromuscul Disord 2012 0.82
89 Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK. Neuromuscul Disord 2006 0.82
90 Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenat Diagn 2004 0.80
91 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands. Neuromuscul Disord 2004 0.80
92 Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? Eur J Hum Genet 2009 0.80
93 How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India 2008 0.80
94 Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul Disord 2010 0.80
95 Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism. Neuromuscul Disord 2009 0.80
96 Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. Eur J Heart Fail 2013 0.79
97 172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands. Neuromuscul Disord 2011 0.78
98 One gene, one or many diseases? Simplifying dysferlinopathy. Neurology 2010 0.78
99 Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies. Neurotherapeutics 2008 0.77
100 Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies. J Neuromuscul Dis 2015 0.75
101 The value of collaboration in improving knowledge on rare diseases. Can J Neurol Sci 2011 0.75
102 Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis. PLoS Curr 2013 0.75
103 Becker and Duchenne muscular dystrophy: a two-way information process for therapies. J Neurol Neurosurg Psychiatry 2013 0.75
104 Titinopathies: what happens when a big gene mutates in a big family? Neurology 2005 0.75
105 The Golden Freeway: a preliminary evaluation of a pilot study advancing information technology as a social intervention for boys with Duchenne muscular dystrophy and their families. Health Soc Care Community 2004 0.75
106 Lifeline. An interview of Kate Bushby. Lancet Neurol 2010 0.75
107 Emotional impact of a paediatric exon-skipping therapy trial. Dev Med Child Neurol 2011 0.75