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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: sivakumar k. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Sivakumar K, et al. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13. Brain. 2005. PMID: 16014653
Childhood-onset spastic paraplegia with NIPAL gene mutation.
Bien-Willner R, Sambuughin N, Holley H, Bodensteiner J, Sivakumar K. Bien-Willner R, et al. Among authors: sivakumar k. J Child Neurol. 2006 Nov;21(11):974-7. doi: 10.1177/08830738060210111501. J Child Neurol. 2006. PMID: 17092466
Meningioma with pneumosinus dilatans.
Mai A, Karis J, Sivakumar K. Mai A, et al. Among authors: sivakumar k. Neurology. 2003 Jun 10;60(11):1861. doi: 10.1212/01.wnl.0000064170.08465.3b. Neurology. 2003. PMID: 12796553 No abstract available.
440 results