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PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.
Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A, Rodriguez JA, Scardamaglia A, Chung BH, Jaconelli M, Vona B, Esteras N, Kwong AK, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA, Efthymiou S, O'Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S, Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Obeso JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Raza Alvi J, Sultan T, Azmi Alkhawaja I, Froukh T, E Alrukban HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack TB, Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. Among authors: gul t. medRxiv [Preprint]. 2024 Jun 20:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2024. PMID: 39148840 Free PMC article. Preprint.
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural A, Şimşir G, Tekgül Ş, Koçoğlu C, Akçimen F, Kartal E, Şen NE, Lahut S, Ömür Ö, Saner N, Gül T, Bayraktar E, Palvadeau R, Tunca C, Pirkevi Çetinkaya C, Gündoğdu Eken A, Şahbaz I, Kovancılar Koç M, Öztop Çakmak Ö, Hanağası H, Bilgiç B, Eraksoy M, Gündüz A, Apaydın H, Kızıltan G, Özekmekçi S, Siva A, Altıntaş A, Kaya Güleç ZE, Parman Y, Oflazer P, Deymeer F, Durmuş H, Şahin E, Çakar A, Tüfekçioğlu Z, Tektürk P, Çorbalı MO, Tireli H, Akdal G, Yiş U, Hız S, Şengün İ, Bora E, Serdaroğlu G, Erer Özbek S, Ağan K, İnce Günal D, Us Ö, Kurt SG, Aksoy D, Bora Tokçaer A, Elmas M, Gültekin M, Kumandaş S, Acer H, Kaya Özçora GD, Yayla V, Soysal A, Genç G, Güllüoğlu H, Kotan D, Özözen Ayas Z, Şahin HA, Tan E, Topçu M, Topçuoğlu ES, Akbostancı C, Koç F, Ertan S, Elibol B, Başak AN. Vural A, et al. Among authors: gul t. Mov Disord. 2021 Jul;36(7):1676-1688. doi: 10.1002/mds.28518. Epub 2021 Feb 24. Mov Disord. 2021. PMID: 33624863
Predictors of treatment failure and outcome assessment of extracorporeal shock wave lithotripsy with the Dornier Compact Delta® III Pro: experience from the first 1000 treatments.
Salah M, Al-Ghashmi M, Tallai B, Baker A, Ibrahim M, Gul T, Kamkoum H, Alhabash S, Alnawsara H, Elmogassabi A, Alrayashi M, Ebrahim M, Abdelkareem M, Ahmed F. Salah M, et al. Among authors: gul t. Arch Ital Urol Androl. 2025 Jun 30;97(2):13867. doi: 10.4081/aiua.2025.13867. Epub 2025 Jun 10. Arch Ital Urol Androl. 2025. PMID: 40495737 Free article.
152 results