Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

722 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. Among authors: berkovic sf. J Neurol. 2024 Dec 12;272(1):25. doi: 10.1007/s00415-024-12732-3. J Neurol. 2024. PMID: 39666133
ILAE genetic literacy series: Focal cortical dysplasia.
Macdonald-Laurs E, Leventer RJ; ILAE Genetics Commission* and the ILAE Genetics Literacy Taskforce**. Macdonald-Laurs E, et al. Epileptic Disord. 2024 Dec 6. doi: 10.1002/epd2.20308. Online ahead of print. Epileptic Disord. 2024. PMID: 39641771 Review.
Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting.
Eratne D, Kang MJY, Lewis C, Dang C, Malpas CB, Keem M, Grewal J, Marinov V, Coe A, Kaylor-Hughes C, Borchard T, Keng-Hong C, Waxmann A, Saglam B, Kalincik T, Kanaan R, Kelso W, Evans A, Farrand S, Loi S, Walterfang M, Stehmann C, Li QX, Collins S, Masters CL, Santillo AF, Zetterberg H, Blennow K, Berkovic SF, Velakoulis D; MiND Study Group. Eratne D, et al. Among authors: berkovic sf. Alzheimers Dement. 2024 Nov;20(11):7989-8001. doi: 10.1002/alz.14278. Epub 2024 Oct 6. Alzheimers Dement. 2024. PMID: 39369278 Free PMC article.
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: berkovic sf. Nat Commun. 2024 Aug 6;15(1):6524. doi: 10.1038/s41467-024-50159-6. Nat Commun. 2024. PMID: 39107278 Free PMC article.
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S, Oliver KL, Regan BM, Schneider AL, Myers CT, Mehaffey MG, LaCroix AJ, Antony J, Webster R, Cardamone M, Subramanian GM, Chiu ATG, Roza E, Teleanu RI, Malone S, Leventer RJ, Gill D, Berkovic SF, Hildebrand MS, Goad BS, Howell KB, Symonds JD, Brunklaus A, Sadleir LG, Zuberi SM, Mefford HC, Scheffer IE. Viswanathan S, et al. Among authors: berkovic sf. Ann Neurol. 2024 Nov;96(5):932-943. doi: 10.1002/ana.27041. Epub 2024 Aug 2. Ann Neurol. 2024. PMID: 39096015
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M, Bodek SD, Munro J, Rafehi H, Bennett MF, Ye Z, Schneider A, Gardiner F, Valente G, Murdoch E, Uebergang E, Hunter J, Stutterd C, Huq A, Salmon L, Scheffer I, Eratne D, Meyn S, Fong CY, John T, Mullen S, White SM, Brown NJ, McGillivray G, Chen J, Richmond C, Hughes A, Krzesinski E, Fennell A, Chambers B, Santoreneos R, Le Fevre A, Hildebrand MS, Bahlo M, Christodoulou J, Delatycki M, Berkovic SF. Wallis M, et al. Among authors: berkovic sf. Orphanet J Rare Dis. 2024 Aug 2;19(1):288. doi: 10.1186/s13023-024-03297-5. Orphanet J Rare Dis. 2024. PMID: 39095811 Free PMC article.
722 results