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Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K; Muntoni F, North KN, Reilly MM. Oates EC, et al. Among authors: greensmith l. Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664120 Free PMC article.
Absence of disturbed axonal transport in spinal and bulbar muscular atrophy.
Malik B, Nirmalananthan N, Bilsland LG, La Spada AR, Hanna MG, Schiavo G, Gallo JM, Greensmith L. Malik B, et al. Among authors: greensmith l. Hum Mol Genet. 2011 May 1;20(9):1776-86. doi: 10.1093/hmg/ddr061. Epub 2011 Feb 11. Hum Mol Genet. 2011. PMID: 21317158 Free PMC article.
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM. Rossor AM, et al. Among authors: greensmith l. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25. J Neurol Neurosurg Psychiatry. 2012. PMID: 22028385 Review.
Cytoplasmic dynein heavy chain: the servant of many masters.
Schiavo G, Greensmith L, Hafezparast M, Fisher EM. Schiavo G, et al. Among authors: greensmith l. Trends Neurosci. 2013 Nov;36(11):641-51. doi: 10.1016/j.tins.2013.08.001. Epub 2013 Sep 10. Trends Neurosci. 2013. PMID: 24035135 Free PMC article. Review.
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H. Sumner CJ, et al. Among authors: greensmith l. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207122 Free PMC article.
165 results