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Items: 23

1.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
2.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM.

Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8.

PMID:
30295347
3.

Does Folate Supplementation Leads to Better Seizure Control with Antiepileptic Drug Therapy?

Agadi S.

Indian J Pediatr. 2018 Jul;85(7):489. doi: 10.1007/s12098-018-2698-9. Epub 2018 May 19. Review. No abstract available.

PMID:
29777469
4.

Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia.

Patil VV, Guzman M, Carter AN, Rathore G, Yoshor D, Curry D, Wilfong A, Agadi S, Swann JW, Adesina AM, Bhattacharjee MB, Anderson AE.

Neuropathology. 2016 Apr;36(2):146-56. doi: 10.1111/neup.12242. Epub 2015 Sep 18.

5.

Time from convulsive status epilepticus onset to anticonvulsant administration in children.

Sánchez Fernández I, Abend NS, Agadi S, An S, Arya R, Brenton JN, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goodkin HP, Kapur K, Mikati MA, Peariso K, Ream M, Riviello J Jr, Tasker RC, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG).

Neurology. 2015 Jun 9;84(23):2304-11. doi: 10.1212/WNL.0000000000001673. Epub 2015 May 6.

6.

Concise Review: Prospects of Bone Marrow Mononuclear Cells and Mesenchymal Stem Cells for Treating Status Epilepticus and Chronic Epilepsy.

Agadi S, Shetty AK.

Stem Cells. 2015 Jul;33(7):2093-103. doi: 10.1002/stem.2029. Epub 2015 May 13. Review.

7.

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

Holder JL Jr, Agadi S, Reese W, Rehder C, Quach MM.

JAMA Neurol. 2014 Jun;71(6):782-4. doi: 10.1001/jamaneurol.2013.5083.

PMID:
24756183
8.

Surgical treatment of pediatric epileptic encephalopathies.

Fridley J, Reddy G, Curry D, Agadi S.

Epilepsy Res Treat. 2013;2013:720841. doi: 10.1155/2013/720841. Epub 2013 Oct 30. Review.

9.

Practice trends in the utilization of intraoperative neurophysiological monitoring in pediatric neurosurgery as a function of complication rate, and patient-, surgeon-, and procedure-related factors.

Vadivelu S, Sivaganesan A, Patel AJ, Agadi S, Schmidt RJ, Mani P, Jea A.

World Neurosurg. 2014 Mar-Apr;81(3-4):617-23. doi: 10.1016/j.wneu.2013.11.010. Epub 2013 Nov 13.

PMID:
24239735
10.

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

Sánchez Fernández I, Abend NS, Agadi S, An S, Arya R, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goldstein DB, Goldstein JL, Goodkin HP, Hahn CD, Heinzen EL, Mikati MA, Peariso K, Pestian JP, Ream M, Riviello JJ Jr, Tasker RC, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG).

Seizure. 2014 Feb;23(2):87-97. doi: 10.1016/j.seizure.2013.10.004. Epub 2013 Oct 16. Review.

11.

Vitamin-responsive epileptic encephalopathies in children.

Agadi S, Quach MM, Haneef Z.

Epilepsy Res Treat. 2013;2013:510529. doi: 10.1155/2013/510529. Epub 2013 Jul 25.

12.

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P.

Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8.

13.

Interhemispheric subdural electrodes: technique, utility, and safety.

Abuelem T, Friedman DE, Agadi S, Wilfong AA, Yoshor D.

Neurosurgery. 2013 Dec;73(2 Suppl Operative):ons253-60; discussion ons260. doi: 10.1227/01.neu.0000430287.08552.83.

PMID:
23615084
14.

Neurophysiologic intraoperative monitoring in children with Down syndrome.

Patel AJ, Agadi S, Thomas JG, Schmidt RJ, Hwang SW, Fulkerson DH, Glover CD, Jea A.

Childs Nerv Syst. 2013 Feb;29(2):281-7. doi: 10.1007/s00381-012-1918-2. Epub 2012 Oct 23.

PMID:
23089932
15.

The electroencephalogram in neonatal maple syrup urine disease: a case report.

Agadi S, Sutton VR, Quach MM, Riviello JJ Jr.

Clin EEG Neurosci. 2012 Jan;43(1):64-7.

PMID:
22423553
16.

Response to "A graded system to categorize drug-resistant epilepsy".

Agadi S, Riviello JJ, Quach MM.

Epilepsia. 2011 Mar;52(3):653-4. doi: 10.1111/j.1528-1167.2010.02964.x. No abstract available.

17.

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.

Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone ST.

J Clin Neuromuscul Dis. 2010 Jun;11(4):203-8. doi: 10.1097/CND.0b013e3181c7f18f.

PMID:
20516809
18.

Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls.

Patel B, Gimi B, Vachha B, Agadi S, Koral K.

Pediatr Radiol. 2008 Jun;38(6):697-9. doi: 10.1007/s00247-008-0849-2. Epub 2008 Apr 26.

PMID:
18438656
19.

Reducing the error in pediatrics dosing.

Agadi S.

Arch Pediatr Adolesc Med. 2003 Sep;157(9):934. No abstract available.

PMID:
12963602
20.

Diagnosis of tuberculosis.

Agadi S.

Lancet. 2003 Jun 14;361(9374):2082; author reply 2082-3. No abstract available.

PMID:
12814736
21.

Iatrogenic Cushing's syndrome: a different story.

Agadi S.

Lancet. 2003 Mar 22;361(9362):1059. No abstract available.

PMID:
12660089
22.

Neonatal resuscitation for small for gestational age babies.

Agadi S.

Lancet. 2002 Dec 14;360(9349):1989-90. No abstract available.

PMID:
12493321
23.

Hepatitis B immunization in low birthweight infants: do they need an additional dose?

Arora NK, Ganguly S, Agadi SN, Irshad M, Kohli R, Deo M, Paul VK, Deorari AK, Chellani H, Prasad MS, Sharma D.

Acta Paediatr. 2002;91(9):995-1001.

PMID:
12412879

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