Kolc KL - Search Results

1

Corrigendum to "Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy" [Epilepsy Res. (2023) 191 107112].

Sullivan J, Gunning B, Zafar M, Guerrini R, Gecz J, Kolc KL, Zhao Y, Gasior M, Aimetti AA, Samanta D. Sullivan J, et al. Among authors: kolc kl. Epilepsy Res. 2024 Jul;203:107342. doi: 10.1016/j.eplepsyres.2024.107342. Epub 2024 Mar 12. Epilepsy Res. 2024. PMID: 38480083 No abstract available.

2

Measuring psychiatric symptoms online: A systematic review of the use of inventories on Amazon Mechanical Turk (mTurk).

Kolc KL, Tan YXK, Lo AZY, Shvetcov A, Mitchell PB, Perkes IE. Kolc KL, et al. J Psychiatr Res. 2023 Jul;163:118-126. doi: 10.1016/j.jpsychires.2023.05.027. Epub 2023 May 2. J Psychiatr Res. 2023. PMID: 37209617 Free article. Review.

3

Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy.

Sullivan J, Gunning B, Zafar M, Guerrini R, Gecz J, Kolc KL, Zhao Y, Gasior M, Aimetti AA, Samanta D. Sullivan J, et al. Among authors: kolc kl. Epilepsy Res. 2023 Mar;191:107112. doi: 10.1016/j.eplepsyres.2023.107112. Epub 2023 Feb 22. Epilepsy Res. 2023. PMID: 36870093 Free article. Clinical Trial.

4

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Pham DH, Pitman MR, Kumar R, Jolly LA, Schulz R, Gardner AE, de Nys R, Heron SE, Corbett MA, Kothur K, Gill D, Rajagopalan S, Kolc KL, Halliday BJ, Robertson SP, Regan BM, Kirsch HE, Berkovic SF, Scheffer IE, Pitson SM, Petrovski S, Gecz J. Pham DH, et al. Among authors: kolc kl. Hum Mutat. 2021 Aug;42(8):1030-1041. doi: 10.1002/humu.24237. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34082468

5

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Kolc KL, Møller RS, Sadleir LG, Scheffer IE, Kumar R, Gecz J. Kolc KL, et al. Adv Exp Med Biol. 2020;1298:177-187. doi: 10.1007/5584_2020_574. Adv Exp Med Biol. 2020. PMID: 32852734

6

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J. Kolc KL, et al. Transl Psychiatry. 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. Transl Psychiatry. 2020. PMID: 32366910 Free PMC article.

7

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

Sadleir LG, Kolc KL, King C, Mefford HC, Dale RC, Gecz J, Scheffer IE. Sadleir LG, et al. Among authors: kolc kl. Eur J Paediatr Neurol. 2020 Jan;24:142-147. doi: 10.1016/j.ejpn.2019.12.020. Epub 2020 Jan 3. Eur J Paediatr Neurol. 2020. PMID: 31928905

8

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J. Kolc KL, et al. Mol Psychiatry. 2019 Feb;24(2):241-251. doi: 10.1038/s41380-018-0066-9. Epub 2018 Jun 11. Mol Psychiatry. 2019. PMID: 29892053 Free PMC article.

9

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).

Pham DH, Tan CC, Homan CC, Kolc KL, Corbett MA, McAninch D, Fox AH, Thomas PQ, Kumar R, Gecz J. Pham DH, et al. Among authors: kolc kl. Hum Mol Genet. 2017 Jun 1;26(11):2042-2052. doi: 10.1093/hmg/ddx094. Hum Mol Genet. 2017. PMID: 28334947 Free PMC article.

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