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Items: 1 to 50 of 478

1.

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, Chahrour MH.

Am J Med Genet B Neuropsychiatr Genet. 2018 Nov 13. doi: 10.1002/ajmg.b.32688. [Epub ahead of print]

PMID:
30421579
2.

Aberrant Structural Brain Connectivity in Adolescents with Attentional Problems Who Were Born Prematurely.

Tymofiyeva O, Gano D, Trevino RJ Jr, Glass HC, Flynn T, Lundy SM, McQuillen PS, Ferriero DM, Barkovich AJ, Xu D.

AJNR Am J Neuroradiol. 2018 Oct 18. doi: 10.3174/ajnr.A5834. [Epub ahead of print]

PMID:
30337433
3.

Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.

D'Arco F, Alves CA, Raybaud C, Chong WKK, Ishak GE, Ramji S, Grima M, Barkovich AJ, Ganesan V.

AJNR Am J Neuroradiol. 2018 Sep 27. doi: 10.3174/ajnr.A5823. [Epub ahead of print]

PMID:
30262641
4.

Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex.

Li Y, Barkovich MJ, Karch CM, Nillo RM, Fan CC, Broce IJ, Tan CH, Cuneo D, Hess CP, Dillon WP, Glenn OA, Glastonbury CM, Olney N, Yokoyama JS, Bonham LW, Miller B, Kao A, Schmansky N, Fischl B, Andreassen OA, Jernigan T, Dale A, Barkovich AJ, Desikan RS, Sugrue LP.

Sci Rep. 2018 Sep 6;8(1):13373. doi: 10.1038/s41598-018-31075-4.

5.

Abnormal Morphology of Select Cortical and Subcortical Regions in Neurofibromatosis Type 1.

Barkovich MJ, Tan CH, Nillo RM, Li Y, Xu D, Glastonbury CM, Glenn OA, Dillon WP, Hess CP, Mueller S, Kline C, Dale AM, Jernigan TL, Sugrue LP, Barkovich AJ, Desikan RS.

Radiology. 2018 Nov;289(2):499-508. doi: 10.1148/radiol.2018172863. Epub 2018 Sep 4.

6.

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK.

Neuron. 2018 Sep 5;99(5):905-913.e7. doi: 10.1016/j.neuron.2018.07.052. Epub 2018 Aug 23.

PMID:
30146301
7.

New insights into neurocutaneous melanosis.

Jakchairoongruang K, Khakoo Y, Beckwith M, Barkovich AJ.

Pediatr Radiol. 2018 Nov;48(12):1786-1796. doi: 10.1007/s00247-018-4205-x. Epub 2018 Aug 3.

PMID:
30074086
8.

White matter injury in term neonates with congenital heart diseases: Topology & comparison with preterm newborns.

Guo T, Chau V, Peyvandi S, Latal B, McQuillen PS, Knirsch W, Synnes A, Feldmann M, Naef N, Chakravarty MM, De Petrillo A, Duerden EG, Barkovich AJ, Miller SP.

Neuroimage. 2018 Jun 15. pii: S1053-8119(18)30511-1. doi: 10.1016/j.neuroimage.2018.06.004. [Epub ahead of print]

PMID:
29890324
9.

Neonatal Brain Injury and Timing of Neurodevelopmental Assessment in Patients With Congenital Heart Disease.

Peyvandi S, Chau V, Guo T, Xu D, Glass HC, Synnes A, Poskitt K, Barkovich AJ, Miller SP, McQuillen PS.

J Am Coll Cardiol. 2018 May 8;71(18):1986-1996. doi: 10.1016/j.jacc.2018.02.068.

PMID:
29724352
10.

Challenges in pediatric neuroimaging.

Barkovich MJ, Li Y, Desikan RS, Barkovich AJ, Xu D.

Neuroimage. 2018 Apr 22. pii: S1053-8119(18)30354-9. doi: 10.1016/j.neuroimage.2018.04.044. [Epub ahead of print] Review.

PMID:
29684645
11.

Maternal or neonatal infection: association with neonatal encephalopathy outcomes.

Jenster M, Bonifacio SL, Ruel T, Rogers EE, Tam EW, Partridge JC, Barkovich AJ, Ferriero DM, Glass HC.

Pediatr Res. 2018 Mar;83(3):747. doi: 10.1038/pr.2017.246.

PMID:
29658514
12.

CXCR4 involvement in neurodegenerative diseases.

Bonham LW, Karch CM, Fan CC, Tan C, Geier EG, Wang Y, Wen N, Broce IJ, Li Y, Barkovich MJ, Ferrari R, Hardy J, Momeni P, Höglinger G, Müller U, Hess CP, Sugrue LP, Dillon WP, Schellenberg GD, Miller BL, Andreassen OA, Dale AM, Barkovich AJ, Yokoyama JS, Desikan RS; International FTD-Genomics Consortium (IFGC); International Parkinson’s Disease Genetics Consortium (IPDGC); International Genomics of Alzheimer’s Project (IGAP).

Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7.

13.

Association of Histologic Chorioamnionitis With Perinatal Brain Injury and Early Childhood Neurodevelopmental Outcomes Among Preterm Neonates.

Bierstone D, Wagenaar N, Gano DL, Guo T, Georgio G, Groenendaal F, de Vries LS, Varghese J, Glass HC, Chung C, Terry J, Rijpert M, Grunau RE, Synnes A, Barkovich AJ, Ferriero DM, Benders M, Chau V, Miller SP.

JAMA Pediatr. 2018 Jun 1;172(6):534-541. doi: 10.1001/jamapediatrics.2018.0102.

14.

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA.

Cell Rep. 2017 Dec 26;21(13):3754-3766. doi: 10.1016/j.celrep.2017.11.106.

15.

Quantitative surface analysis of combined MRI and PET enhances detection of focal cortical dysplasias.

Tan YL, Kim H, Lee S, Tihan T, Ver Hoef L, Mueller SG, Barkovich AJ, Xu D, Knowlton R.

Neuroimage. 2018 Feb 1;166:10-18. doi: 10.1016/j.neuroimage.2017.10.065. Epub 2017 Oct 31.

PMID:
29097316
16.

Clinical and Imaging Characteristics of Arteriopathy Subtypes in Children with Arterial Ischemic Stroke: Results of the VIPS Study.

Wintermark M, Hills NK, DeVeber GA, Barkovich AJ, Bernard TJ, Friedman NR, Mackay MT, Kirton A, Zhu G, Leiva-Salinas C, Hou Q, Fullerton HJ; VIPS Investigators.

AJNR Am J Neuroradiol. 2017 Nov;38(11):2172-2179. doi: 10.3174/ajnr.A5376. Epub 2017 Oct 5.

17.

Early changes in brain structure correlate with language outcomes in children with neonatal encephalopathy.

Shapiro KA, Kim H, Mandelli ML, Rogers EE, Gano D, Ferriero DM, Barkovich AJ, Gorno-Tempini ML, Glass HC, Xu D.

Neuroimage Clin. 2017 Jun 10;15:572-580. doi: 10.1016/j.nicl.2017.06.015. eCollection 2017.

18.

The association between cardiac physiology, acquired brain injury, and postnatal brain growth in critical congenital heart disease.

Peyvandi S, Kim H, Lau J, Barkovich AJ, Campbell A, Miller S, Xu D, McQuillen P.

J Thorac Cardiovasc Surg. 2018 Jan;155(1):291-300.e3. doi: 10.1016/j.jtcvs.2017.08.019. Epub 2017 Aug 24.

PMID:
28918207
19.

Postnatal polyunsaturated fatty acids associated with larger preterm brain tissue volumes and better outcomes.

Kamino D, Studholme C, Liu M, Chau V, Miller SP, Synnes A, Rogers EE, Barkovich AJ, Ferriero DM, Brant R, Tam EWY.

Pediatr Res. 2018 Jan;83(1-1):93-101. doi: 10.1038/pr.2017.230. Epub 2017 Oct 18.

20.

Hazards of Neurological Nomenclature: Observations From Neurodevelopmental and Neurodegenerative Disorders.

Desikan RS, Barkovich AJ.

JAMA Neurol. 2017 Oct 1;74(10):1165-1166. doi: 10.1001/jamaneurol.2017.1747. No abstract available.

PMID:
28806439
21.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA.

Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19.

22.

Bilateral Optic Disc Pits With Posterior Pituitary Ectopia.

Horton JC, Barkovich AJ.

J Neuroophthalmol. 2017 Dec;37(4):401-402. doi: 10.1097/WNO.0000000000000528.

23.

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

Nakayama T, Wu J, Galvin-Parton P, Weiss J, Andriola MR, Hill RS, Vaughan DJ, El-Quessny M, Barry BJ, Partlow JN, Barkovich AJ, Ling J, Mochida GH.

Hum Mutat. 2017 Oct;38(10):1348-1354. doi: 10.1002/humu.23250. Epub 2017 Jun 23.

24.

Lissencephaly: Expanded imaging and clinical classification.

Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB.

Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25.

25.

Pediatric neuro MRI: tricks to minimize sedation.

Barkovich MJ, Xu D, Desikan RS, Williams C, Barkovich AJ.

Pediatr Radiol. 2018 Jan;48(1):50-55. doi: 10.1007/s00247-017-3785-1. Epub 2017 Apr 22. Review.

PMID:
28432404
26.

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW.

Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27.

27.

Characterization of Death in Neonatal Encephalopathy in the Hypothermia Era.

Lemmon ME, Boss RD, Bonifacio SL, Foster-Barber A, Barkovich AJ, Glass HC.

J Child Neurol. 2017 Mar;32(4):360-365. doi: 10.1177/0883073816681904. Epub 2016 Dec 20.

28.

Microstructure of the Default Mode Network in Preterm Infants.

Cui J, Tymofiyeva O, Desikan R, Flynn T, Kim H, Gano D, Hess CP, Ferriero DM, Barkovich AJ, Xu D.

AJNR Am J Neuroradiol. 2017 Feb;38(2):343-348. doi: 10.3174/ajnr.A4997. Epub 2016 Nov 10.

29.

Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.

van der Linden V, Pessoa A, Dobyns W, Barkovich AJ, Júnior HV, Filho EL, Ribeiro EM, Leal MC, Coimbra PP, Aragão MF, Verçosa I, Ventura C, Ramos RC, Cruz DD, Cordeiro MT, Mota VM, Dott M, Hillard C, Moore CA.

MMWR Morb Mortal Wkly Rep. 2016 Dec 2;65(47):1343-1348. doi: 10.15585/mmwr.mm6547e2.

30.

Malformations of cortical development.

Desikan RS, Barkovich AJ.

Ann Neurol. 2016 Dec;80(6):797-810. doi: 10.1002/ana.24793. Epub 2016 Nov 11. Review.

31.

Antenatal Exposure to Magnesium Sulfate Is Associated with Reduced Cerebellar Hemorrhage in Preterm Newborns.

Gano D, Ho ML, Partridge JC, Glass HC, Xu D, Barkovich AJ, Ferriero DM.

J Pediatr. 2016 Nov;178:68-74. doi: 10.1016/j.jpeds.2016.06.053. Epub 2016 Jul 22.

32.

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ.

Cell Rep. 2016 Oct 11;17(3):735-747. doi: 10.1016/j.celrep.2016.09.033.

33.

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.

Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM.

Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):E5598-607. doi: 10.1073/pnas.1609221113. Epub 2016 Sep 6.

34.

Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ.

Brain. 2016 Nov 1;139(11):e65. doi: 10.1093/brain/aww171. No abstract available.

35.

Microstructural maturation of white matter tracts in encephalopathic neonates.

Kansagra AP, Mabray MC, Ferriero DM, Barkovich AJ, Xu D, Hess CP.

Clin Imaging. 2016 Sep-Oct;40(5):1009-13. doi: 10.1016/j.clinimag.2016.05.009. Epub 2016 May 30.

36.

Reprint of "Hypomyelinating disorders: An MRI approach.

Barkovich AJ, Deon S.

Neurobiol Dis. 2016 Aug;92(Pt A):46-54. doi: 10.1016/j.nbd.2015.10.022. Epub 2016 May 24. Review.

PMID:
27235001
37.

NEOCIVET: Towards accurate morphometry of neonatal gyrification and clinical applications in preterm newborns.

Kim H, Lepage C, Maheshwary R, Jeon S, Evans AC, Hess CP, Barkovich AJ, Xu D.

Neuroimage. 2016 Sep;138:28-42. doi: 10.1016/j.neuroimage.2016.05.034. Epub 2016 May 13.

38.

The Contribution of the Corpus Callosum to Language Lateralization.

Hinkley LB, Marco EJ, Brown EG, Bukshpun P, Gold J, Hill S, Findlay AM, Jeremy RJ, Wakahiro ML, Barkovich AJ, Mukherjee P, Sherr EH, Nagarajan SS.

J Neurosci. 2016 Apr 20;36(16):4522-33. doi: 10.1523/JNEUROSCI.3850-14.2016.

39.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH.

Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14.

40.

Association of Prenatal Diagnosis of Critical Congenital Heart Disease With Postnatal Brain Development and the Risk of Brain Injury.

Peyvandi S, De Santiago V, Chakkarapani E, Chau V, Campbell A, Poskitt KJ, Xu D, Barkovich AJ, Miller S, McQuillen P.

JAMA Pediatr. 2016 Apr;170(4):e154450. doi: 10.1001/jamapediatrics.2015.4450. Epub 2016 Apr 4.

41.

Early postnatal docosahexaenoic acid levels and improved preterm brain development.

Tam EW, Chau V, Barkovich AJ, Ferriero DM, Miller SP, Rogers EE, Grunau RE, Synnes AR, Xu D, Foong J, Brant R, Innis SM.

Pediatr Res. 2016 May;79(5):723-30. doi: 10.1038/pr.2016.11. Epub 2016 Jan 13.

42.

Surgical management of medically refractory epilepsy in patients with polymicrogyria.

Wang DD, Knox R, Rolston JD, Englot DJ, Barkovich AJ, Tihan T, Auguste KI, Knowlton RC, Cornes SB, Chang EF.

Epilepsia. 2016 Jan;57(1):151-61. doi: 10.1111/epi.13264. Epub 2015 Dec 9.

43.

Hindbrain regional growth in preterm newborns and its impairment in relation to brain injury.

Kim H, Gano D, Ho ML, Guo XM, Unzueta A, Hess C, Ferriero DM, Xu D, Barkovich AJ.

Hum Brain Mapp. 2016 Feb;37(2):678-88. doi: 10.1002/hbm.23058. Epub 2015 Nov 21.

44.

Disorders of Microtubule Function in Neurons: Imaging Correlates.

Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ.

AJNR Am J Neuroradiol. 2016 Mar;37(3):528-35. doi: 10.3174/ajnr.A4552. Epub 2015 Nov 12.

45.

Risk of Recurrent Arterial Ischemic Stroke in Childhood: A Prospective International Study.

Fullerton HJ, Wintermark M, Hills NK, Dowling MM, Tan M, Rafay MF, Elkind MS, Barkovich AJ, deVeber GA; VIPS Investigators.

Stroke. 2016 Jan;47(1):53-9. doi: 10.1161/STROKEAHA.115.011173. Epub 2015 Nov 10.

46.

Pyruvate to Lactate Metabolic Changes during Neurodevelopment Measured Dynamically Using Hyperpolarized 13C Imaging in Juvenile Murine Brain.

Chen Y, Kim H, Bok R, Sukumar S, Mu X, Sheldon RA, Barkovich AJ, Ferriero DM, Xu D.

Dev Neurosci. 2016;38(1):34-40. doi: 10.1159/000439271. Epub 2015 Nov 10.

47.

Hypomyelinating disorders: An MRI approach.

Barkovich AJ, Deon S.

Neurobiol Dis. 2016 Mar;87:50-8. doi: 10.1016/j.nbd.2015.10.015. Epub 2015 Oct 22. Review.

PMID:
26477299
48.

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM.

Am J Med Genet A. 2016 Feb;170A(2):435-440. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.

49.

Infection, vaccination, and childhood arterial ischemic stroke: Results of the VIPS study.

Fullerton HJ, Hills NK, Elkind MS, Dowling MM, Wintermark M, Glaser CA, Tan M, Rivkin MJ, Titomanlio L, Barkovich AJ, deVeber GA; VIPS Investigators.

Neurology. 2015 Oct 27;85(17):1459-66. doi: 10.1212/WNL.0000000000002065. Epub 2015 Sep 30.

50.

Disrupted glutamate-glutamine cycle in acute encephalopathy with biphasic seizures and late reduced diffusion.

Takanashi J, Mizuguchi M, Terai M, Barkovich AJ.

Neuroradiology. 2015 Nov;57(11):1163-8. doi: 10.1007/s00234-015-1573-x. Epub 2015 Aug 23.

PMID:
26298309

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