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Items: 25

1.

A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia.

Silverstein S, Veerapandiyan A, Hayes-Rosen C, Ming X, Kornitzer J.

Metab Brain Dis. 2018 Oct 22. doi: 10.1007/s11011-018-0317-0. [Epub ahead of print]

PMID:
30350008
2.

Distal 1q21.1 and proximal 1q21.2 microduplication in a child with attention-deficit hyperactivity disorder.

Veerapandiyan A, Oh D, Kornitzer J.

Acta Neurol Belg. 2018 Aug 17. doi: 10.1007/s13760-018-1002-0. [Epub ahead of print] No abstract available.

PMID:
30120686
3.

Cervical puncture to deliver nusinersen in patients with spinal muscular atrophy.

Veerapandiyan A, Pal R, D'Ambrosio S, Young I, Eichinger K, Collins E, Westesson PL, Kwon J, Ciafaloni E.

Neurology. 2018 Aug 14;91(7):e620-e624. doi: 10.1212/WNL.0000000000006006. Epub 2018 Jul 13.

PMID:
30006410
4.

Use of Head Computed Tomography (CT) in the Pediatric Emergency Department in Evaluation of Children With New-Onset Afebrile Seizure.

Veerapandiyan A, Aravindhan A, Takahashi JH, Segal D, Pecor K, Ming X.

J Child Neurol. 2018 Oct;33(11):708-712. doi: 10.1177/0883073818786086. Epub 2018 Jul 10.

PMID:
29987971
5.

Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes.

Aravindhan A, Shah K, Pak J, Veerapandiyan A.

Epileptic Disord. 2018 Jun 1;20(3):214-218. doi: 10.1684/epd.2018.0969.

PMID:
29897043
6.

Andersen-Tawil Syndrome.

Veerapandiyan A, Statland JM, Tawil R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Nov 22 [updated 2018 Jun 7].

7.

Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene.

Aravindhan A, Veerapandiyan A, Earley C, Thulasi V, Kresge C, Kornitzer J.

Neurology. 2018 Mar 27;90(13):622-624. doi: 10.1212/WNL.0000000000005209. No abstract available.

PMID:
29581327
8.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS): A pediatric case report with six year follow-up.

Veerapandiyan A, Chaudhari A, Deo P, Ming X.

Mult Scler Relat Disord. 2017 Oct;17:95-98. doi: 10.1016/j.msard.2017.07.012. Epub 2017 Jul 8.

PMID:
29055484
9.

A Rare Syndrome of GRID2 Deletion in 2 Siblings.

Veerapandiyan A, Enner S, Thulasi V, Ming X.

Child Neurol Open. 2017 Aug 22;4:2329048X17726168. doi: 10.1177/2329048X17726168. eCollection 2017 Jan-Dec.

10.

A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin.

Thulasi V, Veerapandiyan A, Pletcher BA, Tong CM, Ming X.

Child Neurol Open. 2017 Aug 22;4:2329048X17725610. doi: 10.1177/2329048X17725610. eCollection 2017 Jan-Dec.

11.

Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome.

Veerapandiyan A, Chaudhari A, Traba CM, Ming X.

Neurol Genet. 2016 Aug 16;2(5):e99. doi: 10.1212/NXG.0000000000000099. eCollection 2016 Oct.

12.

Seizure predisposition after perinatal hypoxia: effects of subsequent age and of an epilepsy predisposing gene mutation.

Leonard AS, Hyder SN, Kolls BJ, Arehart E, Ng KC, Veerapandiyan A, Mikati MA.

Epilepsia. 2013 Oct;54(10):1789-800. doi: 10.1111/epi.12347. Epub 2013 Sep 13.

13.

Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency.

Steele SU, Cheah SM, Veerapandiyan A, Gallentine W, Smith EC, Mikati MA.

Epilepsy Behav. 2012 Aug;24(4):507-12. doi: 10.1016/j.yebeh.2012.05.021. Epub 2012 Jun 30.

PMID:
22749608
14.

Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy study.

Shashi V, Veerapandiyan A, Keshavan MS, Zapadka M, Schoch K, Kwapil TR, Hooper SR, Stanley JA.

Biol Psychiatry. 2012 Oct 15;72(8):684-91. doi: 10.1016/j.biopsych.2012.04.023. Epub 2012 May 25.

15.

Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures.

Veerapandiyan A, Singh P, Mikati MA.

Epileptic Disord. 2012 Mar;14(1):99-103. doi: 10.1684/epd.2012.0491.

16.

Two patients with an anti-N-methyl-D-aspartate receptor antibody syndrome-like presentation and negative results of testing for autoantibodies.

Shah R, Veerapandiyan A, Winchester S, Gallentine W, Mikati MA.

Pediatr Neurol. 2011 Dec;45(6):412-6. doi: 10.1016/j.pediatrneurol.2011.09.012.

PMID:
22115008
17.

Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions.

Shashi V, Veerapandiyan A, Schoch K, Kwapil T, Keshavan M, Ip E, Hooper S.

J Intellect Disabil Res. 2012 Sep;56(9):865-78. doi: 10.1111/j.1365-2788.2011.01477.x. Epub 2011 Aug 31.

PMID:
21883601
18.

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, Kobrynski L, Taneja D, Schoch K, Zimmerman HH, Shashi V.

Am J Med Genet A. 2011 Sep;155A(9):2186-95. doi: 10.1002/ajmg.a.34226. Epub 2011 Aug 10.

PMID:
21834039
19.

Structural connectivity of the frontal lobe in children with drug-resistant partial epilepsy.

Holt RL, Provenzale JM, Veerapandiyan A, Moon WJ, De Bellis MD, Leonard S, Gallentine WB, Grant GA, Egger H, Song AW, Mikati MA.

Epilepsy Behav. 2011 May;21(1):65-70. doi: 10.1016/j.yebeh.2011.03.016. Epub 2011 Apr 15.

20.

Oculogyric crises secondary to lamotrigine overdosage.

Veerapandiyan A, Gallentine WB, Winchester SA, Baker J, Kansagra SM, Mikati MA.

Epilepsia. 2011 Mar;52(3):e4-6. doi: 10.1111/j.1528-1167.2010.02967.x. Epub 2011 Feb 14.

21.

The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome.

Veerapandiyan A, Blalock D, Ghosh S, Ip E, Barnes C, Shashi V.

Laryngoscope. 2011 Apr;121(4):732-7. doi: 10.1002/lary.21449. Epub 2011 Feb 8.

PMID:
21305558
22.

Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.

Veerapandiyan A, Winchester SA, Gallentine WB, Smith EC, Kansagra S, Hyland K, Mikati MA.

Epilepsy Behav. 2011 Mar;20(3):494-501. doi: 10.1016/j.yebeh.2010.12.046. Epub 2011 Feb 2. Review.

PMID:
21292558
23.

Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Veerapandiyan A, Shashi V, Jiang YH, Gallentine WB, Schoch K, Smith EC.

Muscle Nerve. 2010 Dec;42(6):975-9. doi: 10.1002/mus.21823.

24.

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

Veerapandiyan A, Chinn IK, Schoch K, Maloney KA, Shashi V.

Eur J Med Genet. 2011 Jan-Feb;54(1):63-6. doi: 10.1016/j.ejmg.2010.09.004. Epub 2010 Sep 29.

PMID:
20887823
25.

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS.

Genet Med. 2010 Jul;12(7):424-30. doi: 10.1097/GIM.0b013e3181d94eaa.

PMID:
20648714

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