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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, Vandrovcova J, Houlden H, Chronopoulou E, Pierre G, Maroofian R, Hanna MG, Taanman JW, Hiz S, Oktay Y, Zaki MS, Horvath R, Prudent J, Pitceathly RDS. Falabella M, et al. Among authors: oktay y. Brain. 2024 Aug 30:awae268. doi: 10.1093/brain/awae268. Online ahead of print. Brain. 2024. PMID: 39279645
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Pizzamiglio C, Pitceathly RDS, Lunn MP, Brady S, De Marchi F, Galan L, Heckmann JM, Horga A, Molnar MJ, Oliveira ASB, Pinto WBVR, Primiano G, Santos E, Schoser B, Servidei S, Sgobbi Souza PV, Venugopalan V, Hanna MG, Dimachkie MM, Machado PM; Neuromuscular Diseases and COVID-19 Study Group. Pizzamiglio C, et al. Eur J Neurol. 2023 Feb;30(2):399-412. doi: 10.1111/ene.15613. Epub 2022 Nov 18. Eur J Neurol. 2023. PMID: 36303290 Free PMC article.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D, Ozturk G, Turkdogan D, Kurul SH, Yis U, Komur M, Incecik F, Kara B, Sahin T, Unver O, Dilber C, Mert GG, Gunay C, Uzan GS, Ersoy O, Oktay Y, Mermer S, Tuncer GO, Gungor O, Ozcora GDK, Gumus U, Sezer O, Cetin GO, Demir F, Yilmaz A, Gurbuz G, Topcu M, Topaloglu H, Ceylan AC, Ceylaner S, Gleeson JG, Icagasioglu DF, Sonmez FM. Cavusoglu D, et al. Among authors: oktay y. Cerebellum. 2024 Oct;23(5):1950-1965. doi: 10.1007/s12311-024-01690-1. Epub 2024 Apr 15. Cerebellum. 2024. PMID: 38622473 Free PMC article.
Editorial: Mental health: cell models to mechanisms.
Harwood AJ, Petrakis S, Oktay Y, Pasterkamp RJ. Harwood AJ, et al. Among authors: oktay y. Front Cell Dev Biol. 2023 Jul 25;11:1244425. doi: 10.3389/fcell.2023.1244425. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37560163 Free PMC article. No abstract available.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: oktay y. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
48 results