Prabhu SP - Search Results

1

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

Morton SU, Neilan EG, Peake RWA, Shi J, Schmitz-Abe K, Towne M, Markianos K, Prabhu SP, Agrawal PB. Morton SU, et al. Among authors: prabhu sp. JIMD Rep. 2017;35:7-15. doi: 10.1007/8904_2016_17. Epub 2016 Nov 18. JIMD Rep. 2017. PMID: 27858371 Free PMC article.

2

Erratum to: Disease Heterogeneity in Na⁺/Citrate Cotransporter Deficiency.

Anselm I, MacCuaig M, Prabhu SP, Berry GT. Anselm I, et al. Among authors: prabhu sp. JIMD Rep. 2017;31:113. doi: 10.1007/8904_2016_577. Epub 2016 Jun 21. JIMD Rep. 2017. PMID: 27325426 Free PMC article. No abstract available.

3

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB. Morton SU, et al. Among authors: prabhu sp. Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a001560. doi: 10.1101/mcs.a001560. Cold Spring Harb Mol Case Stud. 2017. PMID: 28299359 Free PMC article.

4

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. Wojcik MH, et al. Among authors: prabhu sp. Am J Med Genet A. 2018 Dec;176(12):2623-2629. doi: 10.1002/ajmg.a.40493. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30151950 Free PMC article.

5

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.

D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB. D'Gama AM, et al. Among authors: prabhu sp. Am J Med Genet A. 2021 Jan;185(1):203-207. doi: 10.1002/ajmg.a.61910. Epub 2020 Oct 9. Am J Med Genet A. 2021. PMID: 33037779 Free PMC article.

6

Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria.

Waisbren SE, Prabhu SP, Greenstein P, Petty C, Schomer D, Anastasoaie V, Charette K, Rodriguez D, Merugumala S, Lin AP. Waisbren SE, et al. Among authors: prabhu sp. JIMD Rep. 2017;34:77-86. doi: 10.1007/8904_2016_11. Epub 2016 Sep 28. JIMD Rep. 2017. PMID: 27677920 Free PMC article.

7

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.

Rodan LH, El Achkar CM, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I. Rodan LH, et al. Among authors: prabhu sp. J Child Neurol. 2017 Jan;32(1):127-131. doi: 10.1177/0883073816672998. Epub 2016 Oct 23. J Child Neurol. 2017. PMID: 27770045

8

Posterior-onset Rasmussen's encephalitis with ipsilateral cerebellar atrophy and uveitis resistant to rituximab.

Sansevere AJ, Henderson LA, Stredny CM, Prabhu SP, Shah A, Sundel R, Madsen J, Dufreney C, Poduri A, Gorman MP. Sansevere AJ, et al. Among authors: prabhu sp. Epilepsy Behav Rep. 2020 Mar 21;14:100360. doi: 10.1016/j.ebr.2020.100360. eCollection 2020. Epilepsy Behav Rep. 2020. PMID: 32368732 Free PMC article.

9

Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe.

Allmendinger AM, Desai NS, Burke AT, Viswanadhan N, Prabhu S. Allmendinger AM, et al. J Radiol Case Rep. 2014 Oct 31;8(10):1-7. doi: 10.3941/jrcr.v8i10.1740. eCollection 2014 Oct. J Radiol Case Rep. 2014. PMID: 25426219 Free PMC article.

10

Neuroimaging in pediatric opsoclonus-myoclonus syndrome: beyond the search for neuroblastomas.

Prabhu SP. Prabhu SP. Dev Med Child Neurol. 2015 Mar;57(3):212-3. doi: 10.1111/dmcn.12598. Epub 2014 Oct 7. Dev Med Child Neurol. 2015. PMID: 25287316 Free article. No abstract available.

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