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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..
Neuromuscul Disord
10(4-5)
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307 -312
2000
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Kaplan, JM, Kim, SH, North, KN, Rennke, H, Correia, LA, Tong, HQ, Mathis, BJ, Rodríguez-Pérez, JC, Allen, PG, Beggs, AH, et al.
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis..
Nat Genet
24(3)
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251 -256
2000
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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..
Neuromuscul Disord
9(8)
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573 -579
1999
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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..
Am J Hum Genet
65(4)
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1104 -1113
1999
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Nowak, KJ, Wattanasirichaigoon, D, Goebel, HH, Wilce, M, Pelin, K, Donner, K, Jacob, RL, Hübner, C, Oexle, K, Anderson, JR, et al.
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy..
Nat Genet
23(2)
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208 -212
1999
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