Prasad AN - Search Results

1

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN; FORGE Canada Consortium; Hegele RA. Farhan SM, et al. Among authors: prasad an. Epilepsia. 2014 Sep;55(9):e106-11. doi: 10.1111/epi.12730. Epub 2014 Jul 24. Epilepsia. 2014. PMID: 25060828 Free article.

2

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Siu VM, et al. Among authors: prasad an, prasad c. Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373. Am J Med Genet A. 2010. PMID: 20583149

3

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.

Prasad AN, Rupar CA, Prasad C. Prasad AN, et al. Among authors: prasad c. Brain Dev. 2011 Oct;33(9):758-69. doi: 10.1016/j.braindev.2011.05.014. Epub 2011 Jul 22. Brain Dev. 2011. PMID: 21778025 Review.

4

Menkes disease and infantile epilepsy.

Prasad AN, Levin S, Rupar CA, Prasad C. Prasad AN, et al. Among authors: prasad c. Brain Dev. 2011 Nov;33(10):866-76. doi: 10.1016/j.braindev.2011.08.002. Epub 2011 Sep 16. Brain Dev. 2011. PMID: 21924848 Review.

5

Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

Cartagena A, Prasad AN, Rupar CA, Strong M, Tuchman M, Ah Mew N, Prasad C. Cartagena A, et al. Among authors: prasad an, prasad c. Can J Neurol Sci. 2013 Jan;40(1):3-9. doi: 10.1017/s0317167100012877. Can J Neurol Sci. 2013. PMID: 23250120 Free PMC article. Review.

6

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J. Prasad C, et al. Among authors: prasad an. Mol Genet Metab. 2013 Mar;108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31. Mol Genet Metab. 2013. PMID: 23375728

7

MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.

Prasad M, Narayan B, Prasad AN, Rupar CA, Levin S, Kronick J, Ramsay D, Tay KY, Prasad C. Prasad M, et al. Among authors: prasad an, prasad c. Can J Neurol Sci. 2014 Mar;41(2):210-9. doi: 10.1017/s0317167100016607. Can J Neurol Sci. 2014. PMID: 24534033

8

Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.

Prasad C, Rupar CA, Campbell C, Napier M, Ramsay D, Tay KY, Sharan S, Prasad AN. Prasad C, et al. Among authors: prasad an. Can J Neurol Sci. 2014 Sep;41(5):626-31. doi: 10.1017/cjn.2014.12. Can J Neurol Sci. 2014. PMID: 25373814

9

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM; FORGE Canada Consortium; Hegele RA. Farhan SM, et al. Among authors: prasad an. J Med Genet. 2015 Oct;52(10):666-75. doi: 10.1136/jmedgenet-2015-103279. Epub 2015 Aug 5. J Med Genet. 2015. PMID: 26246518

10

The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.

Keilland E, Rupar CA, Prasad AN, Tay KY, Downie A, Prasad C. Keilland E, et al. Among authors: prasad an, prasad c. Mol Genet Metab Rep. 2016 Feb 22;6:64-9. doi: 10.1016/j.ymgmr.2016.02.003. eCollection 2016 Mar. Mol Genet Metab Rep. 2016. PMID: 27014580 Free PMC article.

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