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962 results

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Page 1
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H. Sprecher E, et al. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20. Am J Hum Genet. 2005. PMID: 15968592 Free PMC article.
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum.
Ishida-Yamamoto A, Deraison C, Bonnart C, Bitoun E, Robinson R, O'Brien TJ, Wakamatsu K, Ohtsubo S, Takahashi H, Hashimoto Y, Dopping-Hepenstal PJ, McGrath JA, Iizuka H, Richard G, Hovnanian A. Ishida-Yamamoto A, et al. J Invest Dermatol. 2005 Feb;124(2):360-6. doi: 10.1111/j.0022-202X.2004.23583.x. J Invest Dermatol. 2005. PMID: 15675955 Free article.
Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort.
Eratne D, Li QX, Lewis C, Dang C, Kang MJY, Grewal J, Loi S, Walterfang M, Evans AH, Malpas CB, Pedrini S, Martins R, Chatterjee P, Zetterberg H, Blennow K, Berkovic SF, Santillo AF, Collins S, Masters CL, Velakoulis D; MiND Study Group. Eratne D, et al. J Neurol. 2024 Dec 12;272(1):25. doi: 10.1007/s00415-024-12732-3. J Neurol. 2024. PMID: 39666133
Plasma microRNAs as prognostic biomarkers for development of severe epilepsy after experimental traumatic brain injury-EpiBioS4Rx Project 1 study.
Heiskanen M, Ndode-Ekane XE, Ali I, Santana-Gomez C, Puhakka N, Gupta SD, Andrade P, Immonen R, Casillas-Espinosa P, Manninen E, Smith G, Brady RD, Silva J, Braine E, Hudson M, Yamakawa GR, Jones NC, Shultz SR, Harris NG, Wright DK, Gröhn O, Staba RJ, O'Brien TJ, Pitkänen A. Heiskanen M, et al. Among authors: o brien tj. Epilepsia. 2024 Dec 11. doi: 10.1111/epi.18219. Online ahead of print. Epilepsia. 2024. PMID: 39661396
Associations Between Instrumented Mouthguard-Measured Head Acceleration Events and Post-Match Biomarkers of Astroglial and Axonal Injury in Male Amateur Australian Football Players.
Evans LJ, O'Brien WT, Spitz G, Mutimer S, Xie B, Giesler LP, Major BP, Hickey JW, Roberts SSH, Mitra B, O'Brien TJ, Shultz SR, McDonald SJ. Evans LJ, et al. Among authors: o brien tj. Sports Med. 2024 Nov 19. doi: 10.1007/s40279-024-02138-6. Online ahead of print. Sports Med. 2024. PMID: 39562417
WONOEP appraisal: Targeted therapy development for early onset epilepsies.
Casillas-Espinosa PM, Wong JC, Grabon W, Gonzalez-Ramos A, Mantegazza M, Yilmaz NC, Patel M, Staley K, Sankar R, O'Brien TJ, Akman Ö, Balagura G, Numis AL, Noebels JL, Baulac S, Auvin S, Henshall DC, Galanopoulou AS. Casillas-Espinosa PM, et al. Among authors: o brien tj. Epilepsia. 2024 Nov 19. doi: 10.1111/epi.18187. Online ahead of print. Epilepsia. 2024. PMID: 39560633
Neuropsychological Outcomes After Stereo-EEG Radiofrequency Thermocoagulation.
Cockle E, Malpas CB, Coleman H, McIlroy A, Laing J, Kwan P, Hunn M, Gutman M, Harb C, Meade C, D'Souza WJ, Halliday AJ, Bulluss K, Vogrin SJ, Alpitsis R, O'Brien TJ, Rayner G, Neal A. Cockle E, et al. Among authors: o brien tj. Neurology. 2024 Dec 10;103(11):e209815. doi: 10.1212/WNL.0000000000209815. Epub 2024 Nov 18. Neurology. 2024. PMID: 39556777
962 results