Grant PE - Search Results

1

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Kim J, et al. Among authors: grant pe. N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. N Engl J Med. 2019. PMID: 31597037 Free PMC article.

2

Case records of the Massachusetts General Hospital. Case 36-2005. A 61-year-old woman with seizure, disturbed gait, and altered mental status.

Dickerson BC, Holtzman D, Grant PE, Tian D. Dickerson BC, et al. Among authors: grant pe. N Engl J Med. 2005 Nov 24;353(21):2271-80. doi: 10.1056/NEJMcpc059032. N Engl J Med. 2005. PMID: 16306525 No abstract available.

3

Case records of the Massachusetts General Hospital. Case 23-2009. A 13-year-old boy with headache, nausea, seizures, and hypertension.

Somers MJ, Sharma A, Grant PE, Guimaraes AR, Schneeberger EE. Somers MJ, et al. Among authors: grant pe. N Engl J Med. 2009 Jul 23;361(4):389-400. doi: 10.1056/NEJMcpc0900640. N Engl J Med. 2009. PMID: 19625720 No abstract available.

4

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.

Touma M, Joshi M, Connolly MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB. Touma M, et al. Among authors: grant pe. Epilepsia. 2013 May;54(5):e81-5. doi: 10.1111/epi.12137. Epub 2013 Mar 28. Epilepsia. 2013. PMID: 23550958 Free PMC article.

5

Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis.

Im K, Paldino MJ, Poduri A, Sporns O, Grant PE. Im K, et al. Among authors: grant pe. Neuroimage. 2014 Feb 1;86:182-93. doi: 10.1016/j.neuroimage.2013.08.011. Epub 2013 Aug 15. Neuroimage. 2014. PMID: 23954485

6

Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings.

Pinto AL, Chen L, Friedman R, Grant PE, Poduri A, Takeoka M, Prabhu SP, Sahin M. Pinto AL, et al. Among authors: grant pe. Pediatr Neurol. 2016 May;58:25-30. doi: 10.1016/j.pediatrneurol.2015.11.005. Epub 2015 Nov 26. Pediatr Neurol. 2016. PMID: 26706049

7

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. Edward HL, et al. Among authors: grant pe. Am J Med Genet A. 2019 Jul;179(7):1299-1303. doi: 10.1002/ajmg.a.61150. Epub 2019 Apr 22. Am J Med Genet A. 2019. PMID: 31012281

8

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

D'Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. D'Gama AM, et al. Among authors: grant pe. Am J Med Genet A. 2020 Apr;182(4):780-784. doi: 10.1002/ajmg.a.61498. Epub 2020 Feb 5. Am J Med Genet A. 2020. PMID: 32022391

9

Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.

Ahtam B, Waisbren SE, Anastasoaie V, Berry GT, Brown M, Petrides S, Afacan O, Prabhu SP, Schomer D, Grant PE, Greenstein PE. Ahtam B, et al. Among authors: grant pe. J Inherit Metab Dis. 2020 Nov;43(6):1205-1218. doi: 10.1002/jimd.12279. Epub 2020 Aug 3. J Inherit Metab Dis. 2020. PMID: 32592186

10

De novo variants in MPP5 cause global developmental delay and behavioral changes.

Sterling N, Duncan AR, Park R, Koolen DA, Shi J, Cho SH, Benke PJ, Grant PE, Genetti CA, VanNoy GE, Juusola J, McWalter K, Parboosingh JS, Lamont RE, Bernier FP, Smith C, Harris DJ, Stegmann APA, Innes AM, Kim S, Agrawal PB. Sterling N, et al. Among authors: grant pe. Hum Mol Genet. 2020 Dec 18;29(20):3388-3401. doi: 10.1093/hmg/ddaa224. Hum Mol Genet. 2020. PMID: 33073849 Free PMC article.

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