| Year |
Citation |
Score |
| 2020 |
Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, et al. A brief history of human disease genetics. Nature. 577: 179-189. PMID 31915397 DOI: 10.1038/S41586-019-1879-7 |
0.651 |
|
| 2020 |
Kiriaev L, Kueh S, Morley JW, North KN, Houweling PJ, Head SI. Isolated Extensor Digitorum Longus Muscles from Old mdx Dystrophic Mice Show Little Force Recovery 120 Minutes after Eccentric Damage Biophysical Journal. 118: 121a. DOI: 10.1096/Fasebj.2020.34.S1.00260 |
0.331 |
|
| 2018 |
Houweling PJ, Papadimitriou ID, Seto JT, Pérez LM, Coso JD, North KN, Lucia A, Eynon N. Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing and disease. Human Mutation. PMID 30281865 DOI: 10.1002/Humu.23663 |
0.412 |
|
| 2018 |
Garton FC, Houweling PJ, Vukcevic D, Meehan LR, Lee FXZ, Lek M, Roeszler KN, Hogarth MW, Tiong CF, Zannino D, Yang N, Leslie S, Gregorevic P, Head SI, Seto JT, ... North KN, et al. The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance. American Journal of Human Genetics. PMID 29706347 DOI: 10.1016/J.Ajhg.2018.03.009 |
0.739 |
|
| 2018 |
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, ... ... North KN, et al. Congenital titinopathy: Comprehensive characterisation and pathogenic insights. Annals of Neurology. PMID 29691892 DOI: 10.1002/Ana.25241 |
0.768 |
|
| 2018 |
Kiriaev L, Kueh S, Morley JW, North KN, Houweling PJ, Head SI. BRANCHED FIBERS FROM OLD FAST-TWITCH DYSTROPHIC MUSCLES ARE THE SITES OF TERMINAL DAMAGE IN MUSCULAR DYSTROPHY. American Journal of Physiology. Cell Physiology. PMID 29412689 DOI: 10.1152/Ajpcell.00161.2017 |
0.368 |
|
| 2017 |
Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, Matteini AM, Garton FC, Grarup N, Oskolkov N, Thalamuthu A, Mangino M, Liu J, Demirkan A, Lek M, ... ... North KN, et al. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nature Communications. 8: 16015. PMID 29313844 DOI: 10.1038/Ncomms16015 |
0.791 |
|
| 2017 |
Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Human Mutation. PMID 29266598 DOI: 10.1002/Humu.23385 |
0.713 |
|
| 2017 |
Schofield D, Alam K, Douglas L, Shrestha R, MacArthur DG, Davis M, Laing NG, Clarke NF, Burns J, Cooper ST, North KN, Sandaradura SA, O'Grady GL. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. Npj Genomic Medicine. 2. PMID 29152331 DOI: 10.1038/S41525-017-0006-7 |
0.685 |
|
| 2017 |
Davey RA, Clarke MV, Russell PK, Rana K, Seto J, Roeszler KN, How JMY, Chia LY, North K, Zajac JD. Androgen Action via the Androgen Receptor in Neurons Within the Brain Positively Regulates Muscle Mass in Male Mice. Endocrinology. 158: 3684-3695. PMID 28977603 DOI: 10.1210/En.2017-00470 |
0.346 |
|
| 2017 |
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, ... ... North KN, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9. PMID 28424332 DOI: 10.1126/scitranslmed.aal5209 |
0.804 |
|
| 2017 |
Houweling PJ, Berman YD, Turner N, Quinlan KG, Seto JT, Yang N, Lek M, Macarthur DG, Cooney G, North KN. Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans. International Journal of Obesity (2005). PMID 28293018 DOI: 10.1038/Ijo.2017.72 |
0.776 |
|
| 2017 |
Hogarth MW, Houweling PJ, Thomas KC, Gordish-Dressman H, Bello L, Pegoraro E, Hoffman EP, Head SI, North KN. Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy. Nature Communications. 8: 14143. PMID 28139640 DOI: 10.1038/Ncomms14143 |
0.554 |
|
| 2017 |
Oates EC, Yau KS, Jones K, Smith JE, Donkervoort S, Swanson L, Charlton A, Brammah S, Peduto AJ, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, ... ... North KN, et al. Clinical characterisation of a large international congenital titinopathy cohort Neuromuscular Disorders. 27. DOI: 10.1016/S0960-8966(17)30328-0 |
0.765 |
|
| 2017 |
Oates E, Yau K, Jones K, Smith J, Cummings B, Farrar M, Cooper S, Lek M, Hoffman E, Straub V, Ferreiro A, Udd B, Beggs A, Bönnemann C, North K, et al. P.473 - Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy? Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.513 |
0.766 |
|
| 2016 |
Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, et al. Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. Journal of Neuromuscular Diseases. 3: 209-225. PMID 27854218 DOI: 10.3233/Jnd-160151 |
0.445 |
|
| 2016 |
O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, ... ... North KN, et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. American Journal of Human Genetics. PMID 27745833 DOI: 10.1016/J.Ajhg.2016.09.005 |
0.826 |
|
| 2016 |
Ardern-Holmes S, Fisher G, North K. Neurofibromatosis Type 2: Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group. Journal of Child Neurology. PMID 27655473 DOI: 10.1177/0883073816666736 |
0.32 |
|
| 2016 |
O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, et al. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. PMID 27590285 DOI: 10.1212/Wnl.0000000000003179 |
0.781 |
|
| 2016 |
Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. Neuromuscular Disorders : Nmd. PMID 27342937 DOI: 10.1016/J.Nmd.2016.05.013 |
0.803 |
|
| 2016 |
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, ... ... North K, et al. Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there. Annals of Neurology. PMID 27159402 DOI: 10.1002/Ana.24687 |
0.78 |
|
| 2016 |
O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. European Journal of Human Genetics : Ejhg. PMID 26813943 DOI: 10.1038/Ejhg.2015.276 |
0.813 |
|
| 2016 |
Lee FX, Houweling PJ, North KN, Quinlan KG. How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'. Biochimica Et Biophysica Acta. PMID 26802899 DOI: 10.1016/J.Bbamcr.2016.01.013 |
0.395 |
|
| 2016 |
Garton FC, North KN. The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance. Medicine and Science in Sports and Exercise. 48: 509-20. PMID 26429734 DOI: 10.1249/Mss.0000000000000784 |
0.386 |
|
| 2016 |
Oates E, Yau K, Donkervoort S, Swanson L, Brammah S, Topf A, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, Lek M, MacArthur D, Granzier H, ... ... North K, et al. Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.018 |
0.806 |
|
| 2015 |
Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, ... ... North K, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. PMID 26718575 DOI: 10.1212/Wnl.0000000000002324 |
0.798 |
|
| 2015 |
Pitsiladis YP, Tanaka M, Eynon N, Bouchard C, North KN, Williams AG, Collins M, Moran CN, Britton SL, Fuku N, Ashley EA, Klissouras V, Lucia A, Ahmetov II, de Geus EJ, et al. The Athlome Project Consortium: A Concerted Effort to Discover Genomic and other "OMIC" Markers of Athletic Performance. Physiological Genomics. physiolgenomics.0010. PMID 26715623 DOI: 10.1152/Physiolgenomics.00105.2015 |
0.309 |
|
| 2015 |
Hogarth MW, Garton FC, Houweling PJ, Tukiainen T, Lek M, MacArthur DG, Seto JT, Quinlan KG, Yang N, Head SI, North KN. Analysis of the ACTN3 Heterozygous Genotype Suggests That α-Actinin-3 Controls Sarcomeric Composition and Muscle Function in a Dose-Dependent Fashion. Human Molecular Genetics. PMID 26681802 DOI: 10.1093/Hmg/Ddv613 |
0.809 |
|
| 2015 |
Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, ... ... North KN, et al. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. Jama Neurology. 1-9. PMID 26436962 DOI: 10.1001/Jamaneurol.2015.2274 |
0.767 |
|
| 2015 |
Sandaradura S, North KN. LMOD3: the "missing link" in nemaline myopathy? Oncotarget. 6: 26548-9. PMID 26337340 DOI: 10.18632/Oncotarget.5267 |
0.45 |
|
| 2015 |
Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Human Molecular Genetics. PMID 26307083 DOI: 10.1093/Hmg/Ddv334 |
0.663 |
|
| 2015 |
Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, ... ... North KN, et al. Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol (GPI) deficiencies. Human Molecular Genetics. PMID 26293662 DOI: 10.1093/Hmg/Ddv331 |
0.807 |
|
| 2015 |
Cornett KM, North KN, Rose KJ, Burns J. Muscle weakness in children with neurofibromatosis type 1. Developmental Medicine and Child Neurology. 57: 733-6. PMID 25913846 DOI: 10.1111/Dmcn.12777 |
0.335 |
|
| 2015 |
Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 84: 1369-78. PMID 25825463 DOI: 10.1212/Wnl.0000000000001416 |
0.341 |
|
| 2015 |
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, et al. Expanding the phenotype of GMPPB mutations. Brain : a Journal of Neurology. 138: 836-44. PMID 25681410 DOI: 10.1093/Brain/Awv013 |
0.812 |
|
| 2015 |
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... North KN, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 125: 456-7. PMID 25654555 DOI: 10.1172/Jci80057 |
0.77 |
|
| 2015 |
Head SI, Chan S, Houweling PJ, Quinlan KG, Murphy R, Wagner S, Friedrich O, North KN. Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution. Plos Genetics. 11: e1004862. PMID 25590636 DOI: 10.1371/Journal.Pgen.1004862 |
0.322 |
|
| 2015 |
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, ... ... North KN, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain : a Journal of Neurology. 138: 293-310. PMID 25497877 DOI: 10.1093/Brain/Awu356 |
0.409 |
|
| 2015 |
O'Grady GL, Best HA, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North KN, Ilkovski B, Hoffman EP, Clarke NF. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. European Journal of Human Genetics : Ejhg. 23: 883-6. PMID 25182138 DOI: 10.1038/Ejhg.2014.169 |
0.572 |
|
| 2015 |
Lindfors M, Ghaoui R, Penttila S, Palmio J, Needham M, North K, Clarke N, Sue C, Jonson P, Vihola A, Udd B. G.P.233: Mutated HSPB8 causes both neurogenic and myopathic disease with muscle proteinopathy Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.258 |
0.429 |
|
| 2015 |
Houweling P, Seto J, Garton F, Quinlan K, Head S, North K. A gene for speed: The influence of ACTN3 on muscle performance in health and disease Neuromuscular Disorders. 25: S185. DOI: 10.1016/J.Nmd.2015.06.011 |
0.356 |
|
| 2014 |
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... North KN, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/Jci75199 |
0.822 |
|
| 2014 |
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, et al. Mutation update: the spectra of nebulin variants and associated myopathies. Human Mutation. 35: 1418-26. PMID 25205138 DOI: 10.1002/Humu.22693 |
0.674 |
|
| 2014 |
Lamandé SR, North KN. Activating internal ribosome entry to treat Duchenne muscular dystrophy. Nature Medicine. 20: 987-8. PMID 25198047 DOI: 10.1038/Nm.3677 |
0.355 |
|
| 2014 |
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, ... ... North KN, et al. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Human Mutation. 35: 779-90. PMID 24692096 DOI: 10.1002/Humu.22554 |
0.685 |
|
| 2014 |
Thomas KC, Zheng XF, Garces Suarez F, Raftery JM, Quinlan KG, Yang N, North KN, Houweling PJ. Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle. Plos One. 9: e88653. PMID 24523926 DOI: 10.1371/Journal.Pone.0088653 |
0.365 |
|
| 2014 |
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders : Nmd. 24: 97-116. PMID 24456932 DOI: 10.1016/J.Nmd.2013.11.003 |
0.7 |
|
| 2014 |
Thomas KC, Hamilton NA, North KN, Houweling PJ. Sequence analysis of the equine ACTN3 gene in Australian horse breeds. Gene. 538: 88-93. PMID 24440781 DOI: 10.1016/J.Gene.2014.01.014 |
0.347 |
|
| 2014 |
Garton FC, Seto JT, Quinlan KGR, Yang N, Houweling PJ, North KN. α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization Human Molecular Genetics. 23: 1879-1893. PMID 24234654 DOI: 10.1093/Hmg/Ddt580 |
0.407 |
|
| 2014 |
Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, Gdalevitch M, Turner N, Cooney GJ, Kolanczyk M, North KN, Little DG, Schindeler A. NF1 is a critical regulator of muscle development and metabolism. Human Molecular Genetics. 23: 1250-9. PMID 24163128 DOI: 10.1093/Hmg/Ddt515 |
0.396 |
|
| 2014 |
Marttila M, Lehtokari VL, Marston SB, Nyman TA, Barnerias C, Beggs AH, Bertin E, Ceyhan-Birsoy Ö, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, ... ... North KN, et al. G.P.271 Neuromuscular Disorders. 24: 898. DOI: 10.1016/J.Nmd.2014.06.347 |
0.688 |
|
| 2014 |
Ghaoui R, Corbett A, Needham M, Farrar M, Sampaio H, Mowat D, Rajagopalan S, Liang C, Kaur S, Waddell L, Daly K, Thomas BP, Lek M, Daly MJ, North KN, et al. G.P.219: Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort Neuromuscular Disorders. 24: 882-883. DOI: 10.1016/J.Nmd.2014.06.295 |
0.821 |
|
| 2014 |
Oates EC, Yau KS, Charlton A, Brammah S, Farrar MA, Sampaio H, Lamont PL, Mowat D, Fitzsimons RB, Corbett A, Ryan MM, Teoh HL, O’Grady GL, Ghaoui R, Kaur S, ... ... North KN, et al. G.P.35 Neuromuscular Disorders. 24: 805. DOI: 10.1016/J.Nmd.2014.06.049 |
0.823 |
|
| 2014 |
Kreissl M, Sandaradura S, Dowling J, Kostyukova A, Moroz N, Quinlan K, Lehtokari V, Ravenscroft G, Todd E, Ceyhan-Birsoy O, Gokhin D, Maluenda J, Lek M, Nolent F, Pappas C, ... ... North K, et al. G.O.2 Neuromuscular Disorders. 24: 792-793. DOI: 10.1016/J.Nmd.2014.06.010 |
0.469 |
|
| 2014 |
Dowling JJ, North KN, Goebel HH, Beggs AH. Congenital and Other Structural Myopathies Neuromuscular Disorders of Infancy, Childhood, and Adolescence: a Clinician's Approach. 499-537. DOI: 10.1016/B978-0-12-417044-5.00028-7 |
0.557 |
|
| 2013 |
Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, et al. Natural history of pulmonary function in collagen VI-related myopathies. Brain : a Journal of Neurology. 136: 3625-33. PMID 24271325 DOI: 10.1093/Brain/Awt284 |
0.346 |
|
| 2013 |
Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93: 1108-17. PMID 24268659 DOI: 10.1016/J.Ajhg.2013.10.020 |
0.773 |
|
| 2013 |
Seto JT, Quinlan KG, Lek M, Zheng XF, Garton F, MacArthur DG, Hogarth MW, Houweling PJ, Gregorevic P, Turner N, Cooney GJ, Yang N, North KN. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. The Journal of Clinical Investigation. 123: 4255-63. PMID 24091322 DOI: 10.1172/Jci67691 |
0.802 |
|
| 2013 |
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, ... ... North KN, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 93: 29-41. PMID 23768512 DOI: 10.1016/J.Ajhg.2013.05.009 |
0.752 |
|
| 2013 |
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, ... ... North KN, et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. American Journal of Human Genetics. 93: 6-18. PMID 23746549 DOI: 10.1016/J.Ajhg.2013.05.004 |
0.718 |
|
| 2013 |
Eynon N, Hanson ED, Lucia A, Houweling PJ, Garton F, North KN, Bishop DJ. Genes for elite power and sprint performance: ACTN3 leads the way. Sports Medicine (Auckland, N.Z.). 43: 803-17. PMID 23681449 DOI: 10.1007/S40279-013-0059-4 |
0.305 |
|
| 2013 |
Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, ... ... North KN, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. American Journal of Human Genetics. 92: 965-73. PMID 23664120 DOI: 10.1016/J.Ajhg.2013.04.018 |
0.781 |
|
| 2013 |
Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders : Nmd. 23: 432-6. PMID 23478172 DOI: 10.1016/J.Nmd.2013.02.009 |
0.535 |
|
| 2013 |
Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, ... ... North KN, et al. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain : a Journal of Neurology. 136: 494-507. PMID 23378224 DOI: 10.1093/Brain/Aws348 |
0.449 |
|
| 2013 |
Friedlander SM, Herrmann AL, Lowry DP, Mepham ER, Lek M, North KN, Organ CL. ACTN3 allele frequency in humans covaries with global latitudinal gradient. Plos One. 8: e52282. PMID 23359641 DOI: 10.1371/Journal.Pone.0052282 |
0.724 |
|
| 2013 |
Lek M, Clarke N, Waddell L, Thomas B, DePristo M, Daly M, North K, MacArthur D. O.18 Systematic identification of causal mutations in Mendelian disorders using exome sequence data Neuromuscular Disorders. 23: 850. DOI: 10.1016/J.Nmd.2013.06.728 |
0.805 |
|
| 2013 |
Oates E, Rosser A, Hafezparast M, Lek M, Scoto M, Greensmith L, Auer-Grumbach M, Schule R, Herrmann D, Clarke N, MacArthur D, Züchner S, Muntoni F, Reilly M, North K. O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP) Neuromuscular Disorders. 23: 798. DOI: 10.1016/J.Nmd.2013.06.560 |
0.789 |
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| 2013 |
Kesari A, Punetha J, Uapinyoying P, Clarke N, Waddell L, North K, Plotz P, Tesi-Rocha C, Bonnemann C, Grosmann C, Bertorini T, Hoffman E. P.10.21 Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for neuromuscular disorders Neuromuscular Disorders. 23: 795. DOI: 10.1016/J.Nmd.2013.06.551 |
0.395 |
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| 2013 |
Hayashi YK, Goto K, Noguchi S, Matsumoto N, Laing N, North K, Clark N, Nonaka I, Nishino I. P.9.4 Neuromuscular Disorders. 23: 784. DOI: 10.1016/J.Nmd.2013.06.517 |
0.46 |
|
| 2013 |
Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D’Amico A, Bertini E, North K, Ryan MM, Auh S, Muntoni F, Bönnemann CG. P.1.2 Natural history of pulmonary function in collagen VI-related myopathies: An international study Neuromuscular Disorders. 23: 741-742. DOI: 10.1016/J.Nmd.2013.06.386 |
0.329 |
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| 2012 |
Clarke NF, Waddell LB, Sie LT, van Bon BW, McLean C, Clark D, Kornberg A, Lammens M, North KN. Mutations in TPM2 and congenital fibre type disproportion. Neuromuscular Disorders : Nmd. 22: 955-8. PMID 22832343 DOI: 10.1016/J.Nmd.2012.06.002 |
0.379 |
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| 2012 |
Oates EC, Reddel S, Rodriguez ML, Gandolfo LC, Bahlo M, Hawke SH, Lamandé SR, Clarke NF, North KN. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain : a Journal of Neurology. 135: 1714-23. PMID 22628388 DOI: 10.1093/Brain/Aws108 |
0.305 |
|
| 2012 |
Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J. Clinical utility gene card for: Centronuclear and myotubular myopathies. European Journal of Human Genetics : Ejhg. 20. PMID 22617344 DOI: 10.1038/Ejhg.2012.91 |
0.617 |
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| 2012 |
Menezes MP, North KN. Inherited neuromuscular disorders: pathway to diagnosis. Journal of Paediatrics and Child Health. 48: 458-65. PMID 22050238 DOI: 10.1111/J.1440-1754.2011.02210.X |
0.39 |
|
| 2012 |
MacArthur DG, North KN. Chapter 12 - Genes and human elite athletic performance Routledge Online Studies On the Olympic and Paralympic Games. 1: 217-233. DOI: 10.4324/9780203099346_Chapter_12 |
0.63 |
|
| 2012 |
Quinlan K, Seto J, Lek M, Zheng F, Garton F, Houweling P, North K. RARE MYOPATHIES AND EXPERIMENTAL APPROACHES - POSTER PRESENTATIONS G.P.125 ACTN3 genotype influences skeletal muscle performance through alterations in calcineurin signaling Neuromuscular Disorders. 22: 904. DOI: 10.1016/J.Nmd.2012.06.331 |
0.737 |
|
| 2012 |
Mokbel N, Ilkovski B, Memo M, Marttila M, Kreissl M, Wallgren-Pettersson C, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Nowak K, McNamara E, Laing NG, ... ... North KN, et al. C.P.15 K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity Neuromuscular Disorders. 22: 845. DOI: 10.1016/J.Nmd.2012.06.143 |
0.448 |
|
| 2012 |
North K. C.I.1 Gene Wars: Episode V. The clinician strikes back Neuromuscular Disorders. 22: 838. DOI: 10.1016/J.Nmd.2012.06.120 |
0.417 |
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| 2012 |
Roxburgh RH, Marquis-Nicholson R, Hutchinson DO, Waddell LB, Clarke NF, North KN, Love DR. G.P.46 Screening for deletion and duplication mutations in genes implicated in LGMD Neuromuscular Disorders. 22: 833. DOI: 10.1016/J.Nmd.2012.06.105 |
0.382 |
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| 2012 |
Waddell LB, Lek M, Bahlo M, Bromhead C, Jones K, North KN, Clarke NF. G.P.41 The identification of LGMD2G (TCAP) in Australia Neuromuscular Disorders. 22: 831-832. DOI: 10.1016/J.Nmd.2012.06.100 |
0.745 |
|
| 2011 |
North KN. Clinical approach to the diagnosis of congenital myopathies. Seminars in Pediatric Neurology. 18: 216-20. PMID 22172416 DOI: 10.1016/J.Spen.2011.10.002 |
0.354 |
|
| 2011 |
Koutsopoulos OS, Koch C, Tosch V, Böhm J, North KN, Laporte J. Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. Plos One. 6: e27498. PMID 22096584 DOI: 10.1371/Journal.Pone.0027498 |
0.381 |
|
| 2011 |
Nguyen MA, Joya JE, Kee AJ, Domazetovska A, Yang N, Hook JW, Lemckert FA, Kettle E, Valova VA, Robinson PJ, North KN, Gunning PW, Mitchell CA, Hardeman EC. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain : a Journal of Neurology. 134: 3516-29. PMID 22067542 DOI: 10.1093/Brain/Awr274 |
0.444 |
|
| 2011 |
Ravenscroft G, Sollis E, Charles AK, North KN, Baynam G, Laing NG. Fetal akinesia: review of the genetics of the neuromuscular causes. Journal of Medical Genetics. 48: 793-801. PMID 21984750 DOI: 10.1136/Jmedgenet-2011-100211 |
0.43 |
|
| 2011 |
Yang N, Schindeler A, McDonald MM, Seto JT, Houweling PJ, Lek M, Hogarth M, Morse AR, Raftery JM, Balasuriya D, MacArthur DG, Berman Y, Quinlan KG, Eisman JA, Nguyen TV, ... ... North KN, et al. α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone. 49: 790-8. PMID 21784188 DOI: 10.1016/J.Bone.2011.07.009 |
0.782 |
|
| 2011 |
Pistilli EE, Bogdanovich S, Garton F, Yang N, Gulbin JP, Conner JD, Anderson BG, Quinn LS, North K, Ahima RS, Khurana TS. Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles. The Journal of Clinical Investigation. 121: 3120-32. PMID 21765213 DOI: 10.1172/Jci44945 |
0.314 |
|
| 2011 |
Waddell LB, Monnier N, Cooper ST, North KN, Clarke NF. Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle & Nerve. 44: 280-2. PMID 21755510 DOI: 10.1002/Mus.22118 |
0.395 |
|
| 2011 |
Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF. A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscular Disorders : Nmd. 21: 776-81. PMID 21683594 DOI: 10.1016/J.Nmd.2011.05.007 |
0.734 |
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| 2011 |
Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle & Nerve. 44: 135-41. PMID 21674528 DOI: 10.1002/Mus.22076 |
0.395 |
|
| 2011 |
Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, MacArthur DG, Raftery JM, Garvey SM, Hauser MA, Yang N, Head SI, North KN. Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics. 20: 2914-27. PMID 21536590 DOI: 10.1093/Hmg/Ddr196 |
0.795 |
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| 2011 |
Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF, Landstrom AP, Ackerman MJ, Weisleder N, Ma J, North KN, et al. Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. Journal of Neuropathology and Experimental Neurology. 70: 302-13. PMID 21412170 DOI: 10.1097/Nen.0B013E31821350B0 |
0.34 |
|
| 2011 |
Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders : Nmd. 21: 194-203. PMID 21295981 DOI: 10.1016/J.Nmd.2010.11.015 |
0.436 |
|
| 2011 |
Seto JT, Chan S, Turner N, MacArthur DG, Raftery JM, Berman YD, Quinlan KG, Cooney GJ, Head S, Yang N, North KN. The effect of α-actinin-3 deficiency on muscle aging. Experimental Gerontology. 46: 292-302. PMID 21112313 DOI: 10.1016/J.Exger.2010.11.006 |
0.704 |
|
| 2011 |
Chan S, Seto JT, Houweling PJ, Yang N, North KN, Head SI. Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice. Muscle & Nerve. 43: 37-48. PMID 20886650 DOI: 10.1002/Mus.21778 |
0.349 |
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| 2011 |
Oates E, Ilkovski B, North K, Clarke N. P3.37 New histopathlogical features in Centronuclear Myopathy caused by DNM2 mutations – clues to disease pathogenesis Neuromuscular Disorders. 21: 693. DOI: 10.1016/J.Nmd.2011.06.931 |
0.335 |
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| 2011 |
Tran J, Waddell L, North K, Clarke N. P5.63. RNAlater® simplifies the transport of muscle sections for mRNA analysis over long distances Neuromuscular Disorders. 21: 743. DOI: 10.1016/J.Nmd.2011.06.1092 |
0.306 |
|
| 2010 |
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. American Journal of Human Genetics. 87: 842-7. PMID 21109227 DOI: 10.1016/J.Ajhg.2010.10.020 |
0.404 |
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| 2010 |
Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR. 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. The Journal of Biological Chemistry. 285: 33567-76. PMID 20729548 DOI: 10.1074/Jbc.M110.152520 |
0.323 |
|
| 2010 |
Berman Y, North KN. A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism. Physiology (Bethesda, Md.). 25: 250-9. PMID 20699471 DOI: 10.1152/Physiol.00008.2010 |
0.36 |
|
| 2010 |
Lek A, Lek M, North KN, Cooper ST. Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. Bmc Evolutionary Biology. 10: 231. PMID 20667140 DOI: 10.1186/1471-2148-10-231 |
0.698 |
|
| 2010 |
Garton F, Seto JT, North KN, Yang N. Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscular Disorders : Nmd. 20: 540-7. PMID 20638845 DOI: 10.1016/J.Nmd.2010.06.012 |
0.349 |
|
| 2010 |
Evesson FJ, Peat RA, Lek A, Brilot F, Lo HP, Dale RC, Parton RG, North KN, Cooper ST. Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. The Journal of Biological Chemistry. 285: 28529-39. PMID 20595382 DOI: 10.1074/Jbc.M110.111120 |
0.326 |
|
| 2010 |
Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, ... ... North KN, et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Human Mutation. 31: E1544-50. PMID 20583297 DOI: 10.1002/Humu.21278 |
0.33 |
|
| 2010 |
Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscular Disorders : Nmd. 20: 464-6. PMID 20554445 DOI: 10.1016/J.Nmd.2010.05.012 |
0.411 |
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| 2010 |
Lek M, North KN. 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 Letters. 584: 2974-80. PMID 20515688 DOI: 10.1016/J.Febslet.2010.05.059 |
0.705 |
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| 2010 |
Vandebrouck A, Domazetovska A, Mokbel N, Cooper ST, Ilkovski B, North KN. In vitro analysis of rod composition and actin dynamics in inherited myopathies. Journal of Neuropathology and Experimental Neurology. 69: 429-41. PMID 20418783 DOI: 10.1097/Nen.0B013E3181D892C6 |
0.363 |
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| 2010 |
Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, ... ... North KN, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders : Nmd. 20: 229-37. PMID 20227276 DOI: 10.1016/J.Nmd.2010.02.016 |
0.447 |
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| 2010 |
Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN. Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Human Molecular Genetics. 19: 1335-46. PMID 20089531 DOI: 10.1093/Hmg/Ddq010 |
0.795 |
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| 2010 |
Lek M, Quinlan KGR, North KN. The evolution of skeletal muscle performance: Gene duplication and divergence of human sarcomeric α-actinins Bioessays. 32: 17-25. PMID 19967710 DOI: 10.1002/Bies.200900110 |
0.746 |
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| 2010 |
Lek M, MacArthur DG, Yang N, North KN. Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins. Molecular Biology and Evolution. 27: 773-80. PMID 19897525 DOI: 10.1093/Molbev/Msp268 |
0.776 |
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| 2010 |
Sambuughin N, Kyle S, Olive M, Duff R, Bayarsaikhan M, Sivadorai P, Nowak K, Mastaglia F, North K, Ilkovski B, van Engelen B, Lamont P, Davis M, Laing N, Goldfarb L. O.12 A new member of the BTB/Kelch family of proteins is mutated in nemaline myopathy type 6 (NEM6) Neuromuscular Disorders. 20: 638. DOI: 10.1016/J.Nmd.2010.07.134 |
0.302 |
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| 2010 |
Clarke N, North K. P1.41 Recurrent mutations in TPM3 likely arise from gene conversion events linked to multiple Tm5NM1 pseudogenes in the genome Neuromuscular Disorders. 20: 613. DOI: 10.1016/J.Nmd.2010.07.056 |
0.319 |
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| 2010 |
Waddell LB, Lemckert F, Tran J, Zheng F, Evesson FJ, Hawkes J, Lek A, Street N, Lin P, Clarke NF, Weisleder N, Ma J, North KN, Cooper ST. P1.23 Muscle membrane repair proteins are upregulated in muscular dystrophy and localise to t-tubule membranes following mechanical stretch Neuromuscular Disorders. 20: 607-607. DOI: 10.1016/J.Nmd.2010.07.038 |
0.327 |
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| 2010 |
Yiu EM, Klausegger A, Waddell L, Tran K, Chow CW, North K, Murrell D, Ryan MM. 59. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency Journal of Clinical Neuroscience. 17: 1628. DOI: 10.1016/J.Jocn.2010.07.060 |
0.32 |
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| 2009 |
Yang N, Garton F, North K. alpha-actinin-3 and performance. Medicine and Sport Science. 54: 88-101. PMID 19696509 DOI: 10.1159/000235698 |
0.4 |
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| 2009 |
Bastiani M, Liu L, Hill MM, Jedrychowski MP, Nixon SJ, Lo HP, Abankwa D, Luetterforst R, Fernandez-Rojo M, Breen MR, Gygi SP, Vinten J, Walser PJ, North KN, Hancock JF, et al. MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. The Journal of Cell Biology. 185: 1259-73. PMID 19546242 DOI: 10.1083/Jcb.200903053 |
0.364 |
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| 2009 |
Liu R, Ginn SL, Lek M, North KN, Alexander IE, Little DG, Schindeler A. Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a. Bmc Musculoskeletal Disorders. 10: 51. PMID 19442313 DOI: 10.1186/1471-2474-10-51 |
0.658 |
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| 2009 |
Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscular Disorders : Nmd. 19: 348-51. PMID 19345583 DOI: 10.1016/J.Nmd.2009.03.003 |
0.422 |
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| 2009 |
North KN, Laing NG. Skeletal muscle alpha-actin diseases. Advances in Experimental Medicine and Biology. 642: 15-27. PMID 19181090 DOI: 10.1007/978-0-387-84847-1_2 |
0.465 |
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| 2009 |
North K. Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance. Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 11: 384-94. PMID 18637739 DOI: 10.1375/Twin.11.4.384 |
0.422 |
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| 2009 |
Houweling PJ, North KN. Sarcomeric α-actinins and their role in human muscle disease Future Neurology. 4: 731-743. DOI: 10.2217/Fnl.09.60 |
0.388 |
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| 2009 |
Clarke N, Monnier N, Smith R, Kornberg A, Farrell M, Waddell L, Cooper S, Lunardi J, North K. G.P.1.05 RYR1 is a common cause of congenital fibre type disproportion with ptosis, ophthalmoplegia, scoliosis and pronounced axial muscle weakness Neuromuscular Disorders. 19: 557. DOI: 10.1016/J.Nmd.2009.06.047 |
0.374 |
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| 2009 |
Quinlan K, Seto J, Turner N, Floetenmeyer M, Macarthur D, Raftery J, Yang N, Parton R, Cooney G, North K. G.O.4 α-Actinin-3 regulates muscle glycogen phosphorylase: A potential mechanism for the metabolic consequences of the common human null allele of ACTN3 Neuromuscular Disorders. 19: 545-546. DOI: 10.1016/J.Nmd.2009.06.011 |
0.669 |
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| 2009 |
Schindeler A, Liu R, Ginn SL, Lek M, North KN, Alexander IE, Little DG. Bmpr1a expression correlates with the osteogenic sensitivity of muscle progenitors Bone. 44. DOI: 10.1016/J.Bone.2009.01.345 |
0.664 |
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| 2008 |
Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. American Journal of Human Genetics. 83: 714-24. PMID 19026398 DOI: 10.1016/J.Ajhg.2008.10.022 |
0.461 |
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| 2008 |
Burns J, Bray P, Cross LA, North KN, Ryan MM, Ouvrier RA. Hand involvement in children with Charcot-Marie-Tooth disease type 1A Neuromuscular Disorders. 18: 970-973. PMID 18993073 DOI: 10.1016/J.Nmd.2008.08.004 |
0.634 |
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| 2008 |
Martin PT, Shelton GD, Dickinson PJ, Sturges BK, Xu R, LeCouteur RA, Guo LT, Grahn RA, Lo HP, North KN, Malik R, Engvall E, Lyons LA. Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscular Disorders : Nmd. 18: 942-52. PMID 18990577 DOI: 10.1016/J.Nmd.2008.08.002 |
0.373 |
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| 2008 |
Pace RA, Peat RA, Baker NL, Zamurs L, Mörgelin M, Irving M, Adams NE, Bateman JF, Mowat D, Smith NJ, Lamont PJ, Moore SA, Mathews KD, North KN, Lamandé SR. Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Annals of Neurology. 64: 294-303. PMID 18825676 DOI: 10.1002/Ana.21439 |
0.351 |
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| 2008 |
Ilkovski B, Mokbel N, Lewis RA, Walker K, Nowak KJ, Domazetovska A, Laing NG, Fowler VM, North KN, Cooper ST. Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. Journal of Neuropathology and Experimental Neurology. 67: 867-77. PMID 18716557 DOI: 10.1097/Nen.0B013E318183A44F |
0.394 |
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| 2008 |
Chan S, Seto JT, MacArthur DG, Yang N, North KN, Head SI. A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse. American Journal of Physiology. Cell Physiology. 295: C897-904. PMID 18650267 DOI: 10.1152/Ajpcell.00179.2008 |
0.682 |
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| 2008 |
Peat RA, Gécz J, Fallon JR, Tarpey PS, Smith R, Futreal A, Stratton MR, Lamandé SR, Yang N, North KN. Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscular Disorders : Nmd. 18: 606-9. PMID 18602826 DOI: 10.1016/J.Nmd.2008.05.013 |
0.386 |
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| 2008 |
Amsili S, Zer H, Hinderlich S, Krause S, Becker-Cohen M, MacArthur DG, North KN, Mitrani-Rosenbaum S. UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? Plos One. 3: e2477. PMID 18560563 DOI: 10.1371/Journal.Pone.0002477 |
0.71 |
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| 2008 |
North K. What's new in congenital myopathies? Neuromuscular Disorders. 18: 433-442. PMID 18482838 DOI: 10.1016/J.Nmd.2008.04.002 |
0.405 |
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| 2008 |
Au CG, Butler TL, Egan JR, Cooper ST, Lo HP, Compton AG, North KN, Winlaw DS. Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Acta Neuropathologica. 116: 235-46. PMID 18392839 DOI: 10.1007/S00401-008-0369-Z |
0.367 |
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| 2008 |
Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Annals of Neurology. 63: 329-37. PMID 18300303 DOI: 10.1002/Ana.21308 |
0.36 |
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| 2008 |
Rose KJ, Burns J, Ryan MM, Ouvrier RA, North KN. Reliability of quantifying foot and ankle muscle strength in very young children Muscle and Nerve. 37: 626-631. PMID 18236461 DOI: 10.1002/Mus.20961 |
0.648 |
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| 2008 |
MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN. An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Human Molecular Genetics. 17: 1076-86. PMID 18178581 DOI: 10.1093/Hmg/Ddm380 |
0.704 |
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| 2008 |
Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ, Lamandé SR, North KN. Diagnosis and etiology of congenital muscular dystrophy. Neurology. 71: 312-21. PMID 18160674 DOI: 10.1212/01.Wnl.0000284605.27654.5A |
0.317 |
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| 2008 |
Young HK, Barton BA, Waisbren S, Portales Dale L, Ryan MM, Webster RI, North KN. Cognitive and psychological profile of males with Becker muscular dystrophy. Journal of Child Neurology. 23: 155-62. PMID 18056690 DOI: 10.1177/0883073807307975 |
0.344 |
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| 2008 |
Vlahovich N, Schevzov G, Nair-Shaliker V, Ilkovski B, Artap ST, Joya JE, Kee AJ, North KN, Gunning PW, Hardeman EC. Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle. Cell Motility and the Cytoskeleton. 65: 73-85. PMID 17968984 DOI: 10.1002/Cm.20245 |
0.391 |
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| 2008 |
Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders : Nmd. 18: 34-44. PMID 17897828 DOI: 10.1016/J.Nmd.2007.08.009 |
0.69 |
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| 2008 |
Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, et al. Distinctive patterns of microRNA expression in primary muscular disorders (Proceedings of the National Academy of Sciences of the United States of America (2007) 104, 43, (17016-17021) DOI: 10.1073/pnas.0708115104) Proceedings of the National Academy of Sciences of the United States of America. 105: 399. DOI: 10.1073/Pnas.0711290105 |
0.715 |
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| 2008 |
Rose K, Burns J, Ouvrier R, Ryan M, North K. T.P.1.10 Reliability and validity of measuring foot and ankle muscle strength in very young children Neuromuscular Disorders. 18: 741-742. DOI: 10.1016/J.Nmd.2008.06.062 |
0.313 |
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| 2007 |
Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, Mayatepek E, Voit T. Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Neuropediatrics. 38: 282-286. PMID 18461503 DOI: 10.1055/S-2008-1065356 |
0.452 |
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| 2007 |
Yang N, MacArthur DG, Wolde B, Onywera VO, Boit MK, Lau SY, Wilson RH, Scott RA, Pitsiladis YP, North K. The ACTN3 R577X polymorphism in East and West African athletes. Medicine and Science in Sports and Exercise. 39: 1985-8. PMID 17986906 DOI: 10.1249/Mss.0B013E31814844C9 |
0.617 |
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| 2007 |
Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, et al. Distinctive patterns of microRNA expression in primary muscular disorders. Proceedings of the National Academy of Sciences of the United States of America. 104: 17016-21. PMID 17942673 DOI: 10.1073/Pnas.0708115104 |
0.747 |
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| 2007 |
Domazetovska A, Ilkovski B, Cooper ST, Ghoddusi M, Hardeman EC, Minamide LS, Gunning PW, Bamburg JR, North KN. Mechanisms underlying intranuclear rod formation. Brain : a Journal of Neurology. 130: 3275-84. PMID 17928315 DOI: 10.1093/Brain/Awm247 |
0.376 |
|
| 2007 |
Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, ... ... North KN, et al. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Annals of Neurology. 62: 390-405. PMID 17886299 DOI: 10.1002/Ana.21213 |
0.385 |
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| 2007 |
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, ... ... North K, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain : a Journal of Neurology. 130: 2725-35. PMID 17878207 DOI: 10.1093/Brain/Awm212 |
0.394 |
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| 2007 |
MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nature Genetics. 39: 1261-5. PMID 17828264 DOI: 10.1038/Ng2122 |
0.71 |
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| 2007 |
Domazetovska A, Ilkovski B, Kumar V, Valova VA, Vandebrouck A, Hutchinson DO, Robinson PJ, Cooper ST, Sparrow JC, Peckham M, North KN. Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Annals of Neurology. 62: 597-608. PMID 17705262 DOI: 10.1002/Ana.21200 |
0.455 |
|
| 2007 |
Peat RA, Baker NL, Jones KJ, North KN, Lamandé SR. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular Disorders : Nmd. 17: 547-57. PMID 17537636 DOI: 10.1016/J.Nmd.2007.03.017 |
0.4 |
|
| 2007 |
Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K. The pathogenesis of ACTA1-related congenital fiber type disproportion. Annals of Neurology. 61: 552-61. PMID 17387733 DOI: 10.1002/Ana.21112 |
0.453 |
|
| 2007 |
Cooper ST, Kizana E, Yates JD, Lo HP, Yang N, Wu ZH, Alexander IE, North KN. Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis Neuromuscular Disorders. 17: 276-284. PMID 17303423 DOI: 10.1016/J.Nmd.2006.12.010 |
0.449 |
|
| 2007 |
MacArthur DG, North KN. ACTN3: A genetic influence on muscle function and athletic performance. Exercise and Sport Sciences Reviews. 35: 30-4. PMID 17211191 DOI: 10.1097/Jes.0B013E31802D8874 |
0.715 |
|
| 2007 |
Moran CN, Yang N, Bailey ME, Tsiokanos A, Jamurtas A, MacArthur DG, North K, Pitsiladis YP, Wilson RH. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. European Journal of Human Genetics : Ejhg. 15: 88-93. PMID 17033684 DOI: 10.1038/Sj.Ejhg.5201724 |
0.647 |
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| 2007 |
Clarke N, Smith R, Kornberg A, Shield L, Manson J, Beggs A, North K. C.P.1.04 Defining diagnostic boundaries for congenital fibre type disproportion Neuromuscular Disorders. 17: 835. DOI: 10.1016/J.Nmd.2007.06.249 |
0.589 |
|
| 2006 |
Shingde MV, Spring PJ, Maxwell A, Wills EJ, Harper CG, Dye DE, Laing NG, North KN. Myosin storage (hyaline body) myopathy: a case report. Neuromuscular Disorders : Nmd. 16: 882-6. PMID 17118657 DOI: 10.1016/J.Nmd.2006.09.001 |
0.439 |
|
| 2006 |
Roberts H, Day B, Lo HP, McLean CA, North KN. Rippling muscle disease. Journal of Clinical Neuroscience. 13: 576-578. PMID 16723230 DOI: 10.1016/J.Jocn.2005.06.015 |
0.384 |
|
| 2006 |
Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. Neuromuscular Disorders : Nmd. 16: 113-21. PMID 16427282 DOI: 10.1016/J.Nmd.2005.11.004 |
0.469 |
|
| 2006 |
Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Annals of Neurology. 59: 546-52. PMID 16365872 DOI: 10.1002/Ana.20761 |
0.324 |
|
| 2006 |
Hernández-Deviez DJ, Martin S, Laval SH, Lo HP, Cooper ST, North KN, Bushby K, Parton RG. Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics. 15: 129-42. PMID 16319126 DOI: 10.1093/Hmg/Ddi434 |
0.418 |
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| 2006 |
Yang N, MacArthur DG, Kee AJ, Kettle E, Hardeman EC, Lemckert F, Hook J, Gunning PW, North KN. An α-actinin-3 Knockout Mouse Suffers Increased Sarcomeric Damage from Eccentric Exercise Medicine & Science in Sports & Exercise. 38: S123-S124. DOI: 10.1249/00005768-200605001-01445 |
0.612 |
|
| 2006 |
Moran CN, Yang N, MacArthur DG, Vassilopoulos C, Tsiokanos A, Jamurtas A, Bailey ME, Pitsiladis YP, North K, Wilson RH. ACTN3 Genotypes and Obesity-, Power- and Endurance-Related Phenotypes in Adolescent Greeks Medicine & Science in Sports & Exercise. 38: S48-S49. DOI: 10.1249/00005768-200605001-01094 |
0.611 |
|
| 2006 |
Godfrey C, Mein R, Brockington M, Elson E, Topaloglu H, Smith J, Escolar D, Bertini E, Merlini I, Mercuri E, Bushby K, Straub V, North K, Abbs S, Muntoni F. P.O.1 Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations Neuromuscular Disorders. 16: 683. DOI: 10.1016/J.Nmd.2006.05.133 |
0.323 |
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| 2006 |
Senderek J, Krieger M, Stendel C, North K, Muntoni F, Quijano-Roy S, Ebinger F, Schröder JM, Voit T, Weis J, Topaloglu H, Zerres K. P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Neuromuscular Disorders. 16: 683. DOI: 10.1016/J.Nmd.2006.05.132 |
0.335 |
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| 2006 |
Clarke N, Gonzalez V, Kornberg A, Shield L, Manson J, Smith R, Beggs A, Arbuckle S, Bourne A, Dennett X, Nonaka I, Guicheney P, Ferreiro A, North K. G.O.2 A clinical and pathological study of congenital fibre type disproportion Neuromuscular Disorders. 16: 646. DOI: 10.1016/J.Nmd.2006.05.024 |
0.596 |
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| 2005 |
Ilkovski B, Clement S, Sewry C, North KN, Cooper ST. Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscular Disorders : Nmd. 15: 829-35. PMID 16288873 DOI: 10.1016/J.Nmd.2005.08.004 |
0.398 |
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| 2005 |
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, et al. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics. 37: 1312-4. PMID 16282977 DOI: 10.1038/Ng1678 |
0.368 |
|
| 2005 |
Clarke NF, Smith RL, Bahlo M, North KN. A novel X-linked form of congenital fiber-type disproportion. Annals of Neurology. 58: 767-72. PMID 16173074 DOI: 10.1002/Ana.20644 |
0.304 |
|
| 2005 |
Compton AG, Cooper ST, Hill PM, Yang N, Froehner SC, North KN. The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Journal of Neuropathology and Experimental Neurology. 64: 350-61. PMID 15835271 DOI: 10.1093/Jnen/64.4.350 |
0.382 |
|
| 2005 |
Macarthur DG, North KN. Genes and human elite athletic performance. Human Genetics. 116: 331-9. PMID 15726413 DOI: 10.1007/S00439-005-1261-8 |
0.665 |
|
| 2005 |
Corbett MA, Akkari PA, Domazetovska A, Cooper ST, North KN, Laing NG, Gunning PW, Hardeman EC. An αtropomyosin mutation alters dimer preference in nemaline myopathy Annals of Neurology. 57: 42-49. PMID 15562513 DOI: 10.1002/Ana.20305 |
0.464 |
|
| 2005 |
Yang N, Macarthur D, Wolde B, Onywera VO, Boit MK, Wilson RH, Scott RA, Pitsiladis YP, North K. Actn3 Genotype Is Not Associated With Elite Endurance Athlete Status In Ethiopians And Kenyans Medicine & Science in Sports & Exercise. 37: S472. DOI: 10.1097/00005768-200505001-02469 |
0.626 |
|
| 2004 |
Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscular Disorders. 14: 779-784. PMID 15564032 DOI: 10.1016/J.Nmd.2004.08.005 |
0.435 |
|
| 2004 |
Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Human Molecular Genetics. 14: 279-93. PMID 15563506 DOI: 10.1093/Hmg/Ddi025 |
0.411 |
|
| 2004 |
Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I. Actin mutations are one cause of congenital fibre type disproportion. Annals of Neurology. 56: 689-94. PMID 15468086 DOI: 10.1002/Ana.20260 |
0.703 |
|
| 2004 |
Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscular Disorders : Nmd. 14: 461-70. PMID 15336686 DOI: 10.1016/J.Nmd.2004.03.006 |
0.702 |
|
| 2004 |
MacArthur DG, North KN. A gene for speed? The evolution and function of alpha-actinin-3. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 26: 786-95. PMID 15221860 DOI: 10.1002/Bies.20061 |
0.679 |
|
| 2004 |
Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Human Molecular Genetics. 13: 1727-43. PMID 15198992 DOI: 10.1093/Hmg/Ddh185 |
0.387 |
|
| 2004 |
Au CG, Cooper ST, Lo HP, Compton AG, Yang N, Wintour EM, North KN, Winlaw DS. Expression of aquaporin 1 in human cardiac and skeletal muscle. Journal of Molecular and Cellular Cardiology. 36: 655-62. PMID 15135660 DOI: 10.1016/J.Yjmcc.2004.01.009 |
0.332 |
|
| 2004 |
Cooper ST, Lo HP, North KN. Single section Western blot: improving the molecular diagnosis of the muscular dystrophies. Neurology. 61: 93-7. PMID 12847163 DOI: 10.1212/01.Wnl.0000069460.53438.38 |
0.356 |
|
| 2003 |
Clarke NF, North KN. Congenital fiber type disproportion--30 years on. Journal of Neuropathology and Experimental Neurology. 62: 977-89. PMID 14575234 DOI: 10.1093/Jnen/62.10.977 |
0.338 |
|
| 2003 |
Jones KJ, Compton AG, Yang N, Mills MA, Peters MF, Mowat D, Kunkel LM, Froehner SC, North KN. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscular Disorders : Nmd. 13: 456-67. PMID 12899872 DOI: 10.1016/S0960-8966(03)00066-X |
0.364 |
|
| 2003 |
Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics. 73: 627-31. PMID 12879365 DOI: 10.1086/377590 |
0.773 |
|
| 2003 |
Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, De Girolami U, Iannaccone ST, Laing NG, North KN, Beggs AH. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology. 60: 665-73. PMID 12601110 DOI: 10.1212/01.Wnl.0000046585.81304.Bc |
0.673 |
|
| 2003 |
Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, et al. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscular Disorders : Nmd. 13: 151-7. PMID 12565913 DOI: 10.1016/S0960-8966(02)00218-3 |
0.42 |
|
| 2002 |
Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. Journal of Medical Genetics. 38: 649-57. PMID 11584042 DOI: 10.1136/Jmg.38.10.649 |
0.38 |
|
| 2001 |
He Y, Jones KJ, Vignier N, Morgan G, Chevallay M, Barois A, Estournet-Mathiaud B, Hori H, Mizuta T, Tomé FM, North KN, Guicheney P. Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. Neurology. 57: 1319-22. PMID 11591858 DOI: 10.1212/Wnl.57.7.1319 |
0.364 |
|
| 2001 |
Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN. Nemaline myopathy: a clinical study of 143 cases. Annals of Neurology. 50: 312-20. PMID 11558787 DOI: 10.1002/Ana.1080 |
0.671 |
|
| 2001 |
Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Human Molecular Genetics. 10: 1335-46. PMID 11440986 DOI: 10.1093/Hmg/10.13.1335 |
0.662 |
|
| 2001 |
Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, ... North KN, et al. Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene American Journal of Human Genetics. 68: 1333-1343. PMID 11333380 DOI: 10.1086/320605 |
0.486 |
|
| 2000 |
North K. Neurofibromatosis type 1. American Journal of Medical Genetics. 97: 119-127. PMID 11180219 DOI: 10.1002/1096-8628(200022)97:2<119::Aid-Ajmg3>3.0.Co;2-3 |
0.324 |
|
| 2000 |
Ellaway CJ, Duggins A, Fung VS, Earl JW, Kamath R, Parsons PG, Anthony JA, North KN. Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels. Journal of Medical Genetics. 37: 553-7. PMID 10970194 DOI: 10.1136/Jmg.37.7.553 |
0.323 |
|
| 2000 |
Schnell C, Kan A, North KN. 'An artefact gone awry': Identification of the first case of nemaline myopathy by Dr R.D.K. Reye Neuromuscular Disorders. 10: 307-312. PMID 10838259 DOI: 10.1016/S0960-8966(99)00123-6 |
0.381 |
|
| 2000 |
Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, RodrÃguez-Pérez JC, Allen PG, Beggs AH, Pollak MR. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nature Genetics. 24: 251-6. PMID 10700177 DOI: 10.1038/73456 |
0.636 |
|
| 1999 |
Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, Wallgren-Pettersson C, Laing NG. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromuscular Disorders : Nmd. 9: 573-9. PMID 10619715 DOI: 10.1016/S0960-8966(99)00053-X |
0.45 |
|
| 1999 |
Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics. 23: 208-12. PMID 10508519 DOI: 10.1038/13837 |
0.716 |
|
| 1999 |
Ryan MM, Taylor P, Donald JA, Ouvrier RA, Morgan G, Danta G, Buckley MF, North KN. A novel syndrome of episodic muscle weakness maps to xp22.3. American Journal of Human Genetics. 65: 1104-13. PMID 10486330 DOI: 10.1086/302588 |
0.397 |
|
| 1999 |
North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nature Genetics. 21: 353-4. PMID 10192379 DOI: 10.1038/7675 |
0.633 |
|
| 1999 |
North KN. Neurofibromatosis 1 in childhood. Seminars in Pediatric Neurology. 5: 231-42. PMID 9874851 DOI: 10.1016/S1071-9091(98)80002-8 |
0.305 |
|
| 1997 |
Jones KJ, North KN. External ophthalmoplegia in neuromuscular disorders: case report and review of the literature. Neuromuscular Disorders : Nmd. 7: 143-51. PMID 9185176 DOI: 10.1016/S0960-8966(97)00447-1 |
0.419 |
|
| 1997 |
North KN, Beggs AH. Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. Neuromuscular Disorders : Nmd. 6: 229-35. PMID 8887951 DOI: 10.1016/0960-8966(96)00361-6 |
0.666 |
|
| 1997 |
Tan P, Briner J, Boltshauser E, North K, Davis MR, Wilton S, Wallgren-Pettersson C, Laing N. Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe nemaline myopathy Neuromuscular Disorders. 7: 427-428. DOI: 10.1016/S0960-8966(97)87165-9 |
0.356 |
|
| 1996 |
North KN, Specht LA, Sethi RK, Shapiro F, Beggs AH. Congenital muscular dystrophy associated with merosin deficiency. Journal of Child Neurology. 11: 291-5. PMID 8807418 DOI: 10.1177/088307389601100406 |
0.66 |
|
| 1996 |
North K, Korson MS, Krawiecki N, Shoffner JM, Holm IA. Oxidative phosphorylation defect associated with primary adrenal insufficiency. The Journal of Pediatrics. 128: 688-92. PMID 8627443 DOI: 10.1016/S0022-3476(96)80136-3 |
0.339 |
|
| 1996 |
North KN, Miller G, Iannaccone ST, Clemens PR, Chad DA, Bella I, Smith TW, Beggs AH, Specht LA. Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy. Neurology. 46: 461-5. PMID 8614513 DOI: 10.1212/Wnl.46.2.461 |
0.665 |
|
| 1996 |
North KN, Whiteman DA, Pepin MG, Byers PH. Cerebrovascular complications in Ehlers-Danlos syndrome type IV. Annals of Neurology. 38: 960-4. PMID 8526472 DOI: 10.1002/Ana.410380620 |
0.316 |
|
| 1993 |
North K. Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. Journal of Child Neurology. 8: 395-402. PMID 8228039 DOI: 10.1177/088307389300800421 |
0.349 |
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