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Menezes, MP, North, KN. Inherited neuromuscular disorders: Pathway to diagnosis.
Journal of Paediatrics and Child Health
48(6)
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458 -465
2011
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Hyman, SL, Arthur, E, North, KN. Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention‐deficit‐ hyperactivity disorder.
Developmental Medicine & Child Neurology
48(12)
:
973 -977
2006
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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
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Ghaoui, R, Benavides, T, Lek, M, Waddell, LB, Kaur, S, North, KN, MacArthur, DG, Clarke, NF, Cooper, ST. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
Neuromuscular Disorders
26(8)
:
500 -503
2016
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Oates, E, Yau, K, Donkervoort, S, Swanson, L, Brammah, S, Topf, A, Richard, I, Ferreiro, A, Hoffman, E, Bushby, K, et al. S.O.2 Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement.
Neuromuscular Disorders
26:
s89
2016
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