Korvatska O - Search Results

1

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.

Korvatska O, Bucks SA, Yoda RA, Nolan A, Dorschner MO, Tsuang D, Jayadev S, Raskind WH, Bird TD. Korvatska O, et al. J Neurol Sci. 2023 Sep 15;452:120763. doi: 10.1016/j.jns.2023.120763. Epub 2023 Aug 7. J Neurol Sci. 2023. PMID: 37598468 Free PMC article.

2

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.

Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD. Korvatska O, et al. JAMA Neurol. 2015 Aug;72(8):920-7. doi: 10.1001/jamaneurol.2015.0979. JAMA Neurol. 2015. PMID: 26076170 Free PMC article.

3

Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.

Korvatska O, Kiianitsa K, Ratushny A, Matsushita M, Beeman N, Chien WM, Satoh JI, Dorschner MO, Keene CD, Bammler TK, Bird TD, Raskind WH. Korvatska O, et al. Front Immunol. 2020 Sep 25;11:559342. doi: 10.3389/fimmu.2020.559342. eCollection 2020. Front Immunol. 2020. PMID: 33101276 Free PMC article.

4

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.

Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW. Timms AE, et al. Among authors: korvatska o. JAMA Psychiatry. 2013 Jun;70(6):582-90. doi: 10.1001/jamapsychiatry.2013.1195. JAMA Psychiatry. 2013. PMID: 23553203

5

Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.

Edelman WC, Kiianitsa K, Virmani T, Martinez RA, Young JE, Keene CD, Bird TD, Raskind WH, Korvatska O. Edelman WC, et al. Among authors: korvatska o. Parkinsonism Relat Disord. 2022 Aug;101:31-38. doi: 10.1016/j.parkreldis.2022.06.015. Epub 2022 Jun 24. Parkinsonism Relat Disord. 2022. PMID: 35779466 Free PMC article.

6

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Korvatska O, et al. Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16. Hum Mol Genet. 2013. PMID: 23595882 Free PMC article.

7

Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain.

Kiianitsa K, Kurtz I, Beeman N, Matsushita M, Chien WM, Raskind WH, Korvatska O. Kiianitsa K, et al. Among authors: korvatska o. J Leukoc Biol. 2021 Nov;110(5):829-837. doi: 10.1002/JLB.2HI0720-463RR. Epub 2021 Jun 1. J Leukoc Biol. 2021. PMID: 34061398 Free PMC article.

8

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. Chen DH, et al. Among authors: korvatska o. Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4. Neurology. 2015. PMID: 26537056 Free PMC article.

9

Mutations in the TSGA14 gene in families with autism spectrum disorders.

Korvatska O, Estes A, Munson J, Dawson G, Bekris LM, Kohen R, Yu CE, Schellenberg GD, Raskind WH. Korvatska O, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):303-11. doi: 10.1002/ajmg.b.31162. Epub 2011 Jan 13. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21438139 Free PMC article.

10

[No title available]

[No authors listed] [No authors listed] PMID: 34971160

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

20 results

Search Page

Filters