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A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, Siddique T, Roos RP. Rezania K, et al. Among authors: dellefave l. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):162-6. doi: 10.1080/aml.4.3.162.166. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129803
Age and founder effect of SOD1 A4V mutation causing ALS.
Saeed M, Yang Y, Deng HX, Hung WY, Siddique N, Dellefave L, Gellera C, Andersen PM, Siddique T. Saeed M, et al. Among authors: dellefave l. Neurology. 2009 May 12;72(19):1634-9. doi: 10.1212/01.wnl.0000343509.76828.2a. Epub 2009 Jan 28. Neurology. 2009. PMID: 19176896 Free PMC article.
Lack of association of VEGF promoter polymorphisms with sporadic ALS.
Chen W, Saeed M, Mao H, Siddique N, Dellefave L, Hung WY, Deng HX, Sufit RL, Heller SL, Haines JL, Pericak-Vance M, Siddique T. Chen W, et al. Among authors: dellefave l. Neurology. 2006 Aug 8;67(3):508-10. doi: 10.1212/01.wnl.0000227926.42370.04. Neurology. 2006. PMID: 16894118
Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.
Li YJ, Pericak-Vance MA, Haines JL, Siddique N, McKenna-Yasek D, Hung WY, Sapp P, Allen CI, Chen W, Hosler B, Saunders AM, Dellefave LM, Brown RH, Siddique T. Li YJ, et al. Among authors: dellefave lm. Neurogenetics. 2004 Dec;5(4):209-13. doi: 10.1007/s10048-004-0193-0. Epub 2004 Oct 2. Neurogenetics. 2004. PMID: 15657798
Neuronal ubiquitinated intranuclear inclusions in familial and non-familial frontotemporal dementia of the motor neuron disease type associated with amyotrophic lateral sclerosis.
Bigio EH, Johnson NA, Rademaker AW, Fung BB, Mesulam MM, Siddique N, Dellefave L, Caliendo J, Freeman S, Siddique T. Bigio EH, et al. Among authors: dellefave l. J Neuropathol Exp Neurol. 2004 Aug;63(8):801-11. doi: 10.1093/jnen/63.8.801. J Neuropathol Exp Neurol. 2004. PMID: 15330335
The genetics of dilated cardiomyopathy.
Dellefave L, McNally EM. Dellefave L, et al. Curr Opin Cardiol. 2010 May;25(3):198-204. doi: 10.1097/HCO.0b013e328337ba52. Curr Opin Cardiol. 2010. PMID: 20186049 Free PMC article. Review.
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Lakdawala NK, et al. Among authors: dellefave l. J Am Coll Cardiol. 2010 Jan 26;55(4):320-9. doi: 10.1016/j.jacc.2009.11.017. J Am Coll Cardiol. 2010. PMID: 20117437 Free PMC article.
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