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Items: 1 to 50 of 172

1.

Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasm.

Kundishora AJ, Reeves BC, Nelson-Williams C, Hong CS, Gopal PP, Snuderl M, Kahle KT, Erson-Omay EZ.

Clin Genet. 2020 Jan 11. doi: 10.1111/cge.13703. [Epub ahead of print] No abstract available.

PMID:
31925773
2.

Geographical variation in outcomes and costs following spinal fusion for adolescent idiopathic scoliosis.

Koo AB, Elsamadicy AA, Kundishora AJ, David WB, Lee M, Hong CS, Lee V, Kahle KT, DiLuna M.

World Neurosurg. 2020 Jan 6. pii: S1878-8750(19)33207-3. doi: 10.1016/j.wneu.2019.12.175. [Epub ahead of print]

PMID:
31917315
3.

Modulation of brain cation-Cl- cotransport via the SPAK kinase inhibitor ZT-1a.

Zhang J, Bhuiyan MIH, Zhang T, Karimy JK, Wu Z, Fiesler VM, Zhang J, Huang H, Hasan MN, Skrzypiec AE, Mucha M, Duran D, Huang W, Pawlak R, Foley LM, Hitchens TK, Minnigh MB, Poloyac SM, Alper SL, Molyneaux BJ, Trevelyan AJ, Kahle KT, Sun D, Deng X.

Nat Commun. 2020 Jan 7;11(1):78. doi: 10.1038/s41467-019-13851-6.

4.

Identification of KCC2 Mutations in Human Epilepsy Suggests Strategies for Therapeutic Transporter Modulation.

Duy PQ, David WB, Kahle KT.

Front Cell Neurosci. 2019 Nov 15;13:515. doi: 10.3389/fncel.2019.00515. eCollection 2019.

5.

Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal parenchymal tumor of intermediate differentiation: case report.

Fomchenko EI, Erson-Omay EZ, Kundishora AJ, Hong CS, Daniel AA, Allocco A, Duy PQ, Darbinyan A, Marks AM, DiLuna ML, Kahle KT, Huttner A.

J Neurosurg Pediatr. 2019 Oct 25:1-10. doi: 10.3171/2019.8.PEDS18664. [Epub ahead of print]

PMID:
31653819
6.

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.

Allocco AA, Jin SC, Duy PQ, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT.

Front Cell Neurosci. 2019 Sep 26;13:425. doi: 10.3389/fncel.2019.00425. eCollection 2019.

7.

Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival.

Watanabe M, Zhang J, Mansuri MS, Duan J, Karimy JK, Delpire E, Alper SL, Lifton RP, Fukuda A, Kahle KT.

Sci Signal. 2019 Oct 15;12(603). pii: eaaw9315. doi: 10.1126/scisignal.aaw9315.

PMID:
31615901
8.

Impaired regulation of KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathology.

Pisella LI, Gaiarsa JL, Diabira D, Zhang J, Khalilov I, Duan J, Kahle KT, Medina I.

Sci Signal. 2019 Oct 15;12(603). pii: eaay0300. doi: 10.1126/scisignal.aay0300.

PMID:
31615899
9.

Reduced influence of affective disorders on perioperative complication rates, length of hospital stay, and healthcare costs following spinal fusion for adolescent idiopathic scoliosis.

Elsamadicy AA, Koo AB, Lee M, Kundishora AJ, Hong CS, Hengartner AC, Camara-Quintana J, Kahle KT, DiLuna ML.

J Neurosurg Pediatr. 2019 Sep 6:1-6. doi: 10.3171/2019.7.PEDS19223. [Epub ahead of print]

PMID:
31491756
10.

Integrated K+ channel and K+Cl- cotransporter functions are required for the coordination of size and proportion during development.

Lanni JS, Peal D, Ekstrom L, Chen H, Stanclift C, Bowen ME, Mercado A, Gamba G, Kahle KT, Harris MP.

Dev Biol. 2019 Dec 15;456(2):164-178. doi: 10.1016/j.ydbio.2019.08.016. Epub 2019 Aug 28.

PMID:
31472116
11.

Teaching NeuroImages: Unilateral focal segmental hyperhidrosis from spinal tumor progression.

Hong CS, Kundishora AJ, Kahle KT, Diluna ML.

Neurology. 2019 Aug 13;93(7):e729-e730. doi: 10.1212/WNL.0000000000007950. No abstract available.

PMID:
31405944
12.

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.

Jin SC, Furey CG, Zeng X, Allocco A, Nelson-Williams C, Dong W, Karimy JK, Wang K, Ma S, Delpire E, Kahle KT.

Mol Genet Genomic Med. 2019 Sep;7(9):e892. doi: 10.1002/mgg3.892. Epub 2019 Aug 8.

13.

Impact of patient and hospital-level risk factors on extended length of stay following spinal fusion for adolescent idiopathic scoliosis.

Elsamadicy AA, Koo AB, Kundishora AJ, Chouairi F, Lee M, Hengartner AC, Camara-Quintana J, Kahle KT, DiLuna ML.

J Neurosurg Pediatr. 2019 Aug 2:1-7. doi: 10.3171/2019.5.PEDS19161. [Epub ahead of print]

PMID:
31374544
14.

Teaching NeuroImages: Spinal subdural hematoma in pediatric nonaccidental trauma.

Hong CS, Camara-Quintana J, Kundishora AJ, Diluna ML, Kahle KT.

Neurology. 2019 Jul 30;93(5):e522-e523. doi: 10.1212/WNL.0000000000007869. No abstract available.

PMID:
31358679
15.

GemC1 is a critical switch for neural stem cell generation in the postnatal brain.

Lalioti ME, Kaplani K, Lokka G, Georgomanolis T, Kyrousi C, Dong W, Dunbar A, Parlapani E, Damianidou E, Spassky N, Kahle KT, Papantonis A, Lygerou Z, Taraviras S.

Glia. 2019 Dec;67(12):2360-2373. doi: 10.1002/glia.23690. Epub 2019 Jul 22.

PMID:
31328313
16.

The WNK-SPAK/OSR1 Kinases and the Cation-Chloride Cotransporters as Therapeutic Targets for Neurological Diseases.

Huang H, Song S, Banerjee S, Jiang T, Zhang J, Kahle KT, Sun D, Zhang Z.

Aging Dis. 2019 Jun 1;10(3):626-636. doi: 10.14336/AD.2018.0928. eCollection 2019 Jun. Review.

17.

Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.

Date P, Ackermann P, Furey C, Fink IB, Jonas S, Khokha MK, Kahle KT, Deniz E.

Sci Rep. 2019 Apr 17;9(1):6196. doi: 10.1038/s41598-019-42549-4.

18.

Trim71/lin-41 Links an Ancient miRNA Pathway to Human Congenital Hydrocephalus.

Duy PQ, Furey CG, Kahle KT.

Trends Mol Med. 2019 Jun;25(6):467-469. doi: 10.1016/j.molmed.2019.03.004. Epub 2019 Apr 8.

PMID:
30975633
19.

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Zeng X, Hunt A, Jin SC, Duran D, Gaillard J, Kahle KT.

Trends Mol Med. 2019 Apr;25(4):265-286. doi: 10.1016/j.molmed.2019.01.009. Epub 2019 Feb 25. Review.

PMID:
30819650
20.

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT.

Neuron. 2019 Feb 6;101(3):429-443.e4. doi: 10.1016/j.neuron.2018.11.041. Epub 2018 Dec 18.

PMID:
30578106
21.

Familial Trigeminal Neuralgia Cases Implicate Genetic Factors in Disease Pathogenesis.

Panchagnula S, Sularz AK, Kahle KT.

JAMA Neurol. 2019 Jan 1;76(1):9-10. doi: 10.1001/jamaneurol.2018.3322. No abstract available.

PMID:
30398541
22.

Characterization of the ventricular-subventricular stem cell niche during human brain development.

Coletti AM, Singh D, Kumar S, Shafin TN, Briody PJ, Babbitt BF, Pan D, Norton ES, Brown EC, Kahle KT, Del Bigio MR, Conover JC.

Development. 2018 Oct 26;145(20). pii: dev170100. doi: 10.1242/dev.170100.

23.

Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.

Furey CG, Zeng X, Dong W, Jin SC, Choi J, Timberlake AT, Dunbar AM, Allocco AA, Günel M, Lifton RP, Kahle KT.

World Neurosurg. 2018 Nov;119:441-443. doi: 10.1016/j.wneu.2018.09.018. Epub 2018 Sep 8. No abstract available.

PMID:
30205212
24.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5.

25.

The Subjective Experience of Patients Undergoing Shunt Surgery for Idiopathic Normal Pressure Hydrocephalus.

Subramanian HE, Mahajan A, Sommaruga S, Falcone GJ, Kahle KT, Matouk CC.

World Neurosurg. 2018 Nov;119:e46-e52. doi: 10.1016/j.wneu.2018.06.209. Epub 2018 Jul 4.

PMID:
29981467
26.

De novo MYH9 mutation in congenital scalp hemangioma.

Fomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002998. doi: 10.1101/mcs.a002998. Print 2018 Aug.

27.

9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus.

Furey C, Antwi P, Duran D, Timberlake AT, Nelson-Williams C, Matouk CC, DiLuna ML, Günel M, Kahle KT.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003145. doi: 10.1101/mcs.a003145. Print 2018 Oct.

28.

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing.

Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT.

Hum Genome Var. 2018 Mar 8;5:18001. doi: 10.1038/hgv.2018.1. eCollection 2018.

29.

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.

Antwi P, Hong CS, Duran D, Jin SC, Dong W, DiLuna M, Kahle KT.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002766. doi: 10.1101/mcs.a002766. Print 2018 Jun.

30.

Tubular approach to minimally invasive microdiscectomy for pediatric lumbar disc herniation.

Montejo JD, Camara-Quintana JQ, Duran D, Rockefeller JM, Conine SB, Blaise AM, Kahle KT, DiLuna ML.

J Neurosurg Pediatr. 2018 May;21(5):449-455. doi: 10.3171/2017.11.PEDS17293. Epub 2018 Feb 23.

PMID:
29473813
31.

Non-syndromic single-suture craniosynostosis in triplets.

Chesler D, Bram R, Antwi P, Timberlake AT, DiLuna ML, Kahle KT.

Childs Nerv Syst. 2018 Jun;34(6):1241-1245. doi: 10.1007/s00381-018-3754-5. Epub 2018 Feb 19.

PMID:
29460062
32.

Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib.

Marks AM, Bindra RS, DiLuna ML, Huttner A, Jairam V, Kahle KT, Kieran MW.

Pediatr Blood Cancer. 2018 May;65(5):e26969. doi: 10.1002/pbc.26969. Epub 2018 Jan 30.

PMID:
29380516
33.

Human genetics and molecular mechanisms of vein of Galen malformation.

Duran D, Karschnia P, Gaillard JR, Karimy JK, Youngblood MW, DiLuna ML, Matouk CC, Aagaard-Kienitz B, Smith ER, Orbach DB, Rodesch G, Berenstein A, Gunel M, Kahle KT.

J Neurosurg Pediatr. 2018 Apr;21(4):367-374. doi: 10.3171/2017.9.PEDS17365. Epub 2018 Jan 19. Review.

PMID:
29350590
34.

Multimodal treatment approach in a patient with multiple intracranial myxomatous aneurysms.

Penn DL, Lanpher AB, Klein JM, Kozakewich HPW, Kahle KT, Smith ER, Orbach DB.

J Neurosurg Pediatr. 2018 Mar;21(3):315-321. doi: 10.3171/2017.9.PEDS17288. Epub 2018 Jan 5.

PMID:
29303459
35.

GABAA receptor dependent synaptic inhibition rapidly tunes KCC2 activity via the Cl--sensitive WNK1 kinase.

Heubl M, Zhang J, Pressey JC, Al Awabdh S, Renner M, Gomez-Castro F, Moutkine I, Eugène E, Russeau M, Kahle KT, Poncer JC, Lévi S.

Nat Commun. 2017 Nov 24;8(1):1776. doi: 10.1038/s41467-017-01749-0.

36.

Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst.

Furey CG, Timberlake AT, Nelson-Williams C, Duran D, Li P, Jackson EM, Kahle KT.

JAMA Neurol. 2017 Dec 1;74(12):1503-1504. doi: 10.1001/jamaneurol.2017.3399. No abstract available.

37.

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

Timberlake AT, Furey CG, Choi J, Nelson-Williams C; Yale Center for Genome Analysis, Loring E, Galm A, Kahle KT, Steinbacher DM, Larysz D, Persing JA, Lifton RP.

Proc Natl Acad Sci U S A. 2017 Aug 29;114(35):E7341-E7347. doi: 10.1073/pnas.1709255114. Epub 2017 Aug 14.

38.

Malignant Cerebellar Edema Subsequent to Accidental Prescription Opioid Intoxication in Children.

Duran D, Messina RD, Beslow LA, Montejo JD, Karimy JK, Gavankar Furey C, Sheridan AD, Sze G, Yarman Y, DiLuna ML, Kahle KT.

Front Neurol. 2017 Jul 25;8:362. doi: 10.3389/fneur.2017.00362. eCollection 2017.

39.

Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus.

Karimy JK, Zhang J, Kurland DB, Theriault BC, Duran D, Stokum JA, Furey CG, Zhou X, Mansuri MS, Montejo J, Vera A, DiLuna ML, Delpire E, Alper SL, Gunel M, Gerzanich V, Medzhitov R, Simard JM, Kahle KT.

Nat Med. 2017 Aug;23(8):997-1003. doi: 10.1038/nm.4361. Epub 2017 Jul 10.

PMID:
28692063
40.

Pharmacological targeting of SPAK kinase in disorders of impaired epithelial transport.

Zhang J, Karimy JK, Delpire E, Kahle KT.

Expert Opin Ther Targets. 2017 Aug;21(8):795-804. doi: 10.1080/14728222.2017.1351949. Epub 2017 Jul 12. Review.

41.

SOX2 immunity and tissue resident memory in children and young adults with glioma.

Vasquez JC, Huttner A, Zhang L, Marks A, Chan A, Baehring JM, Kahle KT, Dhodapkar KM.

J Neurooncol. 2017 Aug;134(1):41-53. doi: 10.1007/s11060-017-2515-8. Epub 2017 Jun 15.

PMID:
28620836
42.

Chloride Dysregulation, Seizures, and Cerebral Edema: A Relationship with Therapeutic Potential.

Glykys J, Dzhala V, Egawa K, Kahle KT, Delpire E, Staley K.

Trends Neurosci. 2017 May;40(5):276-294. doi: 10.1016/j.tins.2017.03.006. Epub 2017 Apr 18. Review.

43.

WNK Kinase Signaling in Ion Homeostasis and Human Disease.

Shekarabi M, Zhang J, Khanna AR, Ellison DH, Delpire E, Kahle KT.

Cell Metab. 2017 Feb 7;25(2):285-299. doi: 10.1016/j.cmet.2017.01.007. Review.

44.

Mystery Case: Acute hydrocephalus caused by radiographically occult fourth ventricular outlet obstruction.

Duran D, Hadzipasic M, Kahle KT.

Neurology. 2017 Jan 31;88(5):e36-e37. doi: 10.1212/WNL.0000000000003555. No abstract available.

PMID:
28138085
45.

Functional genomics reveals that tumors with activating phosphoinositide 3-kinase mutations are dependent on accelerated protein turnover.

Davoli T, Mengwasser KE, Duan J, Chen T, Christensen C, Wooten EC, Anselmo AN, Li MZ, Wong KK, Kahle KT, Elledge SJ.

Genes Dev. 2016 Dec 15;30(24):2684-2695. doi: 10.1101/gad.290122.116.

46.

The KCC3 cotransporter as a therapeutic target for peripheral neuropathy.

Delpire E, Kahle KT.

Expert Opin Ther Targets. 2017 Feb;21(2):113-116. doi: 10.1080/14728222.2017.1275569. Epub 2017 Jan 5. No abstract available.

PMID:
28019725
47.

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.

Duran D, Jin SC, DeSpenza T Jr, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Hum Genome Var. 2016 Dec 8;3:16042. doi: 10.1038/hgv.2016.42. eCollection 2016.

48.

Perihematomal Edema Expansion Rates and Patient Outcomes in Deep and Lobar Intracerebral Hemorrhage.

Grunwald Z, Beslow LA, Urday S, Vashkevich A, Ayres A, Greenberg SM, Goldstein JN, Leasure A, Shi FD, Kahle KT, Battey TW, Simard JM, Rosand J, Kimberly WT, Sheth KN.

Neurocrit Care. 2017 Apr;26(2):205-212. doi: 10.1007/s12028-016-0321-3.

49.

Leveraging unique structural characteristics of WNK kinases to achieve therapeutic inhibition.

Zhang J, Deng X, Kahle KT.

Sci Signal. 2016 Oct 18;9(450):e3. Review.

PMID:
27811182
50.

The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.

Kahle KT, Khanna AR, Duan J, Staley KJ, Delpire E, Poduri A.

Neuroscientist. 2016 Dec;22(6):555-562. Epub 2016 Apr 29. Review.

PMID:
27130838

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