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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(7)
:
553
2000
view publication
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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(4-5)
:
307 -312
2000
view publication
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Kaplan, JM, H Kim, S, North, KN, Rennke, H, A Correia, L, Tong, H-Q, Mathis, BJ, Rodríguez-Pérez, J-C, Allen, PG, Beggs, AH, et al.
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis.
Nature Genetics
24(3)
:
251 -256
2000
view publication
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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
9(8)
:
573 -579
1999
view publication
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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(4)
:
1104 -1113
1999
view publication