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Neuroimaging and Neurophysiology Studies in Carriers of Cree Leukoencephalopathy

  • R. J. Huntsman (a1), E. G. Lemire (a2), C. L. Voll (a3), S. Wiebe (a4) and N. J. Lowry (a1)...
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Copyright

Corresponding author

Division of Pediatric Neurology, Department of Pediatrics, University of Saskatchewan, Royal University Hospital, 103 Hospital Drive, Saskatoon, Saskatchewan, S7N 0W8, Canada

References

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1Huntsman, RJ, Seshia, S, Lowry, N, Lemire, EG, Harder, SL.Peripheral neuropathy in a child with Cree Leukodystrophy. J Child Neurol. 2007;22:7668.
2Fogli, A, Wong, K, Eymard-Pierre, A, et al.Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol. 2002;52:50610.
3Alorainey, IA, Patenaude, YG, O’Gorman, AM, Black, DN, Meagher-Vilemure, K.Cree leukoencephalopathy: neuroimaging finding. Radiology. 1999;213:4006.
4Houlden, H, Groves, M, Miedzybrodzka, Z, et al.New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry. 2007;78: 126770.
5Manfredi, G, Silvestri, G, Serividei, S, et al.Manifesting heterozygotes in McArdle’s disease: clinical, morphological and biochemical studies in a family. J Neurol Sci. 1993;115(1):914.
6Rafay, M, Murphy, EG, McGarry, JD, Kaufmann, P, DiMauro, S, Tein, I.Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation. Can J Neurol Sci. 2005;32:31620.
7Preston, DC, Shapiro, BE.Electromyography and neuromuscular disorders: clinical-electrophysiological correlations. 2nd ed. Philadelphia: Elsevier; 2005.
8Schiffman, R, Elroy-Stein, O.Childhood ataxia with CNS hypomyelination/vanishing white matter disease - a common leukodystrophy caused by abnormal control of protein synthesis. Mol Genet Metab. 2006;88:715.
9van der Voorn, JP, van Kollenberg, B, Bertrand, G, et al.The unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol. 2005;64(9):7705.
10Van Kollenburg, B, van Dijk, J, Garbern, J, et al.Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J Neuropathol Exp Neurol. 2006; 65(7):70715.
11Hajek, M, Dezortova, M, Krsek, P.1H MR spectroscopy in epilepsy. Eur J Radiol. 2008;67:25867.

Neuroimaging and Neurophysiology Studies in Carriers of Cree Leukoencephalopathy

  • R. J. Huntsman (a1), E. G. Lemire (a2), C. L. Voll (a3), S. Wiebe (a4) and N. J. Lowry (a1)...

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