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Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.
Yiu EM, Ryan MM. Yiu EM, et al. J Peripher Nerv Syst. 2012 Sep;17(3):285-300. doi: 10.1111/j.1529-8027.2012.00412.x. J Peripher Nerv Syst. 2012. PMID: 22971091 Review.
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.
D'Arcy CE, Bjorksten A, Yiu EM, Bankier A, Gillies R, McLean CA, Shield LK, Ryan MM. D'Arcy CE, et al. Neurology. 2008 Sep 2;71(10):776-7. doi: 10.1212/01.wnl.0000324929.33780.2f. Neurology. 2008. PMID: 18765655 No abstract available.
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A.
Yiu EM, Burns J, Ryan MM, Ouvrier RA. Yiu EM, et al. J Peripher Nerv Syst. 2008 Sep;13(3):236-41. doi: 10.1111/j.1529-8027.2008.00182.x. J Peripher Nerv Syst. 2008. PMID: 18844790
Duchenne muscular dystrophy.
Yiu EM, Kornberg AJ. Yiu EM, et al. Neurol India. 2008 Jul-Sep;56(3):236-47. doi: 10.4103/0028-3886.43441. Neurol India. 2008. PMID: 18974549 Review.
A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.
Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA. Yiu EM, et al. Neurology. 2011 Feb 1;76(5):461-6. doi: 10.1212/WNL.0b013e31820a0ceb. Neurology. 2011. PMID: 21282593 Review.
Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF. Yiu EM, et al. Muscle Nerve. 2011 Jul;44(1):135-41. doi: 10.1002/mus.22076. Muscle Nerve. 2011. PMID: 21674528
Demyelinating prenatal and infantile developmental neuropathies.
Yiu EM, Ryan MM. Yiu EM, et al. J Peripher Nerv Syst. 2012 Mar;17(1):32-52. doi: 10.1111/j.1529-8027.2012.00379.x. J Peripher Nerv Syst. 2012. PMID: 22462665 Review.
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
Delatycki MB, Tai G, Corben L, Yiu EM, Evans-Galea MV, Stephenson SE, Gurrin L, Allen KJ, Lynch D, Lockhart PJ. Delatycki MB, et al. Mov Disord. 2014 Jun;29(7):940-3. doi: 10.1002/mds.25795. Epub 2014 Jan 3. Mov Disord. 2014. PMID: 24390816
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