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Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.
Saunders-Pullman R, Raymond D, Stoessl AJ, Hobson D, Nakamura K, Nakamura T, Pullman S, Lefton D, Okun MS, Uitti R, Sachdev R, Stanley K, San Luciano M, Hagenah J, Gatti R, Ozelius LJ, Bressman SB. Saunders-Pullman R, et al. Neurology. 2012 Feb 28;78(9):649-57. doi: 10.1212/WNL.0b013e3182494d51. Epub 2012 Feb 15. Neurology. 2012. PMID: 22345219 Free PMC article.
Olfactory dysfunction in LRRK2 G2019S mutation carriers.
Saunders-Pullman R, Stanley K, Wang C, San Luciano M, Shanker V, Hunt A, Severt L, Raymond D, Ozelius LJ, Lipton RB, Bressman SB. Saunders-Pullman R, et al. Neurology. 2011 Jul 26;77(4):319-24. doi: 10.1212/WNL.0b013e318227041c. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753159 Free PMC article.
Metabolic changes in DYT11 myoclonus-dystonia.
Carbon M, Raymond D, Ozelius L, Saunders-Pullman R, Frucht S, Dhawan V, Bressman S, Eidelberg D. Carbon M, et al. Neurology. 2013 Jan 22;80(4):385-91. doi: 10.1212/WNL.0b013e31827f0798. Epub 2013 Jan 2. Neurology. 2013. PMID: 23284065 Free PMC article.
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.
Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A. Gan-Or Z, et al. Neurology. 2013 Apr 23;80(17):1606-10. doi: 10.1212/WNL.0b013e31828f180e. Epub 2013 Mar 27. Neurology. 2013. PMID: 23535491 Free PMC article.
179 results