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Results:
1-13
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Results: 13
Authors:
Corbett, MA
Robinson, CS
Dunglison, GF
Yang, N
Joya, JE
Stewart, AW
Schnell, C
Gunning, PW
North, KN
Hardeman, EC
Citation: Ma. Corbett et al., A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy, HUM MOL GEN, 10(4), 2001, pp. 317-328
Authors:
Mills, MA
Yang, N
Weinberger, RP
Vander Woude, DL
Beggs, AH
Easteal, S
North, KN
Citation: Ma. Mills et al., Differential expression of the actin-binding proteins, alpha-actinin-2 and-3, in different species: implications for the evolution of functional redundancy, HUM MOL GEN, 10(13), 2001, pp. 1335-1346
Authors:
Ng, YT
North, KN
Citation: Yt. Ng et Kn. North, Visual-evoked potentials in the assessment of optic gliomas, PED NEUROL, 24(1), 2001, pp. 44-48
Authors:
Ryan, MM
Schnell, C
Strickland, CD
Shield, LK
Morgan, G
Iannaccone, ST
Laing, NG
Beggs, AH
North, KN
Citation: Mm. Ryan et al., Nemaline myopathy: A clinical study of 143 cases, ANN NEUROL, 50(3), 2001, pp. 312-320
Congenital muscular dystrophy with primary partial laminin alpha 2 chain deficiency: Molecular study
Authors:
He, Y
Jones, KJ
Vignier, N
Morgan, G
Chevallay, M
Barois, A
Estournet-Mathiaud, B
Hori, H
Mizuta, T
Tome, FMS
North, KN
Guicheney, P
Citation: Y. He et al., Congenital muscular dystrophy with primary partial laminin alpha 2 chain deficiency: Molecular study, NEUROLOGY, 57(7), 2001, pp. 1319-1322
Authors:
Jones, KJ
Morgan, G
Johnston, H
Tobias, V
Ouvrier, RA
Wilkinson, I
North, KN
Citation: Kj. Jones et al., The expanding phenotype of laminin alpha 2 chain (merosin) abnormalities: case series and review, J MED GENET, 38(10), 2001, pp. 649-657
Authors:
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
Citation: B. Ilkovski et al., Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene, AM J HU GEN, 68(6), 2001, pp. 1333-1343
Authors:
Kaplan, JM
Kim, SH
North, KN
Rennke, H
Correia, LA
Tong, HQ
Mathis, BJ
Rodriguez-Perez, JC
Allen, PG
Beggs, AH
Pollak, MR
Citation: Jm. Kaplan et al., Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis, NAT GENET, 24(3), 2000, pp. 251-256
Authors:
Schnell, C
Kan, A
North, KN
Citation: C. Schnell et al., 'An artefact gone awry': Identification of the first case of nemaline myopathy by Dr R.D.K. Reye, NEUROMUSC D, 10(4-5), 2000, pp. 307-312
Authors:
Ellaway, CJ
Duggins, A
Fung, VS
Earls, JW
Kamath, R
Parsons, PG
Antony, JA
North, KN
Citation: Cj. Ellaway et al., Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels, J MED GENET, 37(7), 2000, pp. 553-557
Authors:
Nowak, KJ
Wattanasirichaigoon, D
Goebel, HH
Wilce, M
Pelin, K
Donner, K
Jacob, RL
Hubner, C
Oexle, K
Anderson, JR
Verity, CM
North, KN
Iannaccone, ST
Muller, CR
Nurnberg, P
Muntoni, F
Sewry, C
Hughes, I
Sutphen, R
Lacson, AG
Swoboda, KJ
Vigneron, J
Wallgren-Pettersson, C
Beggs, AH
Laing, NG
Citation: Kj. Nowak et al., Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy, NAT GENET, 23(2), 1999, pp. 208-212
Authors:
North, KN
Yang, N
Wattanasirichaigoon, D
Mills, M
Easteal, S
Beggs, AH
Citation: Kn. North et al., A common nonsense mutation results in alpha-actinin-3 deficiency in the general population, NAT GENET, 21(4), 1999, pp. 353-354
Authors:
Ryan, MM
Taylor, P
Donald, JA
Morgan, G
Danta, G
Buckley, MF
North, KN
Citation: Mm. Ryan et al., A novel syndrome of episodic muscle weakness maps to Xp22.3, AM J HU GEN, 65(4), 1999, pp. 1104-1113
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