Young HK, Lowe A, Fitzgerald DA, Seton C, Waters KA, Kenny E, Hynan, LS, Iannaccone ST, North KN, Ryan MM. Outcome of non-invasive ventilation in children with neuromuscular disease. Neurology 2007;.68:198-201

Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng J, Marston S, North KN. Investigating the pathogenesis of ACTA1-related congenital fibre type disproportion. Annals of Neurology 2007;61(6):552-61.

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 2007;62(6):597-608

Yang N, Macarthur DG, Wolde B, Onywera VO, Boit MK, Wilson RH, Scott RA, Pitsiladis YP and North KN. The ACTN3 R577X polymorphism in east and west African athletes. Medicine and Science in Sports and Exercise 2007;39:1985-1988.

Baker NL, Morgelin M, Pace RA, Peat RA, Adams NE, McKinlay Gardner RJ, Thompson EM, North KN, Bateman JF, Lamande SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Annals of Neurology 2007;62:390-405.

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 function of the ACTN3 gene alters muscle metabolism in a mouse model and has been selectively favored during recent human evolution. Nature Genetics 2007;39:1261-1265.

Featured in Science News, New Scientist, Sydney Morning Herald, BBC, Le Figaro, and newspaper coverage internationally (France, Germany, USA, South Africa).

Domazetovska A, Ilkovski B, Cooper ST, Ghoddusi M, Hardeman EC, Minamide LS, Gunning PW, Bamburg JR. North KN. Mechanisms underlying actin aggregate formation inside the nucleus. Brain 2007;130(Pt 12):3275-84

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 A, Kinali M, Torelli S, Brown S, Sewry C, Bushby K, Topaloglu H, North KN, Abbs S, Muntoni F. Molecular genetic analysis of a large cohort of muscular dystrophy patients redefines the clinical spectrum in the secondary dystroglycanopathies. Brain 2007; 130:2725-35.

Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey M, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN. Mutations in TPM3 are a common cause of congenital fibre type disproportion. Annals of Neurology 2008;63(3):329-37.

MacArthur DG*, Seto JT*, Chan S, Quinlan KGR, Raftery JM, Turner N, Nicholson M, 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 α-actinin-3 deficiency and human athletic performance. Human Molecular Genetics 2008 17(8): 1076-86.

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 2008;71:312-321.

(* Leading article, featured in highlights and subject of Editorial)

Pace RA, Peat RA, Mörgelin M, Baker NL, Irving M, Adams NE, Bateman JF, Mowat D, Smith NJC, Lamont PJ, Moore SA, North KN, Lamandé SR. Collagen VI glycine mutations: Perturbed assembly and a spectrum of muscular dystrophy severity. Annals of Neurology 2008; 64(3):294-303.

Ilkovski B, Mokbel N, Lewis R, Walker K, Nowak K, Domazetovska A, Laing N, Fowler V, North KN, Cooper ST. Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. J Neuropathology and Experimental Neurology 2008; 67(9):867-77

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. Neuromuscul Disord. 2008;18(8):606-9.

ClementE, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Topaloglu H, Mein R, Abbs S, North KN, Barkovich AJ, Rutherford M, Muntoni F, Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol. 2008;64(5):573-82.

Chan S, Seto JT, MacArthur DG, Yang N, North K, Head S. A gene for speed: contractile properties of isolated whole EDL muscle from an α-actinin-3 knockout mouse. Am J Physiol: Cell Physiol 2008;295(4):C897-904.

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Mowat D, Challis D, Ranscht B, Bahlo M, Froehner SC, North KN. Mutations in contactin-1, a novel neuromuscular junction protein, cause lethal congenital myopathy associated with sarcolemmal loss of syntrophin and alpha-dystrobrevin. Am J Hum Genet. 2008 83: 714–724.

Bray P, Bundy AC, Ryan MM, North KN Feasibility of a computerized method to measure quality of 'everyday' life in children with neuromuscular disorders. Physical and Occupational Therapy in Pediatrics. In press 6.3.09

Rose K, Burns J, Ouvrier RA, North KN 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. In press 26.5.09

Payne JM. Moharir MD, Webster R, North KN. Brain Structure and Function in Neurofibromatosis Type 1: Current Concepts and Future Directions. J Neurol Neurosurg Psychiatr. In press. (Reviews)