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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: bahlo m. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1 /lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement.
Farashi S, Abbott CJ, Ansell BR, Wu Z, Altay L, Arnon E, Arnould L, Bagdasarova Y, Balaskas K, Chen FK, Chew E, Chowers I, Clarke S, Cukras C, Delcourt C, Delyfer MN, den Hollander AI, Fauser S, Finger RP, Gabrielle PH, Han J, Hodgson LA, Hogg R, Holz FG, Hoyng C, Kumar H, Lad EM, Lee A, Luhmann UF, Mauschitz MM, McKnight AJ, McLenachan S, Mishra A, Moghul I, Orozco LD, Sampson DM, Scott LW, Sitnilska V, Song S, Stockwell A, Swaroop A, Terheyden JH, Tiosano L, Tufail A, Yaspan BL; MACUSTAR consortium; NICOLA consortium; Pébay A, Fletcher EL, Guymer RH, Bahlo M. Farashi S, et al. Among authors: bahlo m. medRxiv [Preprint]. 2024 Sep 28:2024.09.26.24314339. doi: 10.1101/2024.09.26.24314339. medRxiv. 2024. PMID: 39399049 Free PMC article. Preprint.
Deep Learning-Based Detection of Reticular Pseudodrusen in Age-Related Macular Degeneration on Optical Coherence Tomography.
Kumar H, Bagdasarova Y, Song S, Hickey DG, Cohn AC, Okada M, Finger RP, Terheyden JH, Hogg RE, Gabrielle PH, Arnould L, Jannaud M, Hadoux X, van Wijngaarden P, Abbott CJ, Hodgson LAB, Schwartz R, Tufail A, Chew EY, Lee CS, Fletcher EL, Bahlo M, Ansell BRE, Pébay A, Guymer RH, Lee AY, Wu Z. Kumar H, et al. Among authors: bahlo m. medRxiv [Preprint]. 2024 Sep 12:2024.09.11.24312817. doi: 10.1101/2024.09.11.24312817. medRxiv. 2024. PMID: 39314940 Free PMC article. Preprint.
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).
Abou Chaar W, Eranki AN, Stevens HA, Watson SL, Wong DY, Avila VS, Delfeld M, Gary AJ, Tawde S, Triebold M, Cherchi M, Xie T, Lockhart PJ, Bahlo M, Pellerin D, Dicaire MJ, Danzi M, Zuchner S, Brais BC, Perlman S, Burmeister M, Paulson H, Srinivasan S, Schut L, Bower M, Bushara K, Liao C, Shakkottai VG, Collins J, Clark HB, Das S, Fogel BL, Gomez CM. Abou Chaar W, et al. Among authors: bahlo m. Ann Neurol. 2024 Dec;96(6):1092-1103. doi: 10.1002/ana.27060. Epub 2024 Sep 12. Ann Neurol. 2024. PMID: 39263992
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: bahlo m. Nat Commun. 2024 Aug 22;15(1):7239. doi: 10.1038/s41467-024-51310-z. Nat Commun. 2024. PMID: 39174524 Free PMC article.
331 results