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Minkler, PE, Kerner, J, North, KN, Hoppel, CL.
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency.
Clinica Chimica Acta
352(1-2)
:
81 -92
2005
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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(2)
:
279 -293
2005
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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(1)
:
42 -49
2005
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Jungbluth, H, Sewry, CA, Counsell, S, Allsop, J, Chattopadhyay, A, Mercuri, E, North, K, Laing, N, Bydder, G, Pelin, K, et al.
Magnetic resonance imaging of muscle in nemaline myopathy.
Neuromuscular Disorders
14(12)
:
779 -784
2004
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Laing, NG, Clarke, NF, Dye, DE, Liyanage, K, Walker, KR, Kobayashi, Y, Shimakawa, S, Hagiwara, T, Ouvrier, R, Sparrow, JC, et al.
Actin mutations are one cause of congenital fibre type disproportion.
Annals of Neurology
56(5)
:
689 -694
2004
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