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Towards precision medicine.
Bardakjian T, Gonzalez-Alegre P. Bardakjian T, et al. Handb Clin Neurol. 2018;147:93-102. doi: 10.1016/B978-0-444-63233-3.00008-7. Handb Clin Neurol. 2018. PMID: 29325630 Review.
Contrast Acuity and the King-Devick Test in Huntington's Disease.
Hamedani AG, Bardakjian T, Balcer LJ, Gonzalez-Alegre P. Hamedani AG, et al. Neuroophthalmology. 2019 Nov 25;44(4):219-225. doi: 10.1080/01658107.2019.1669668. eCollection 2020. Neuroophthalmology. 2019. PMID: 33012907 Free PMC article.
PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.
Walker IM, Riboldi GM, Drummond P, Saade-Lemus S, Martin-Saavedra JS, Frucht S, Bardakjian TM, Gonzalez-Alegre P, Deik A. Walker IM, et al. Among authors: bardakjian tm. Ann Neurol. 2021 Jan;89(1):194-195. doi: 10.1002/ana.25943. Epub 2020 Nov 5. Ann Neurol. 2021. PMID: 33098144 No abstract available.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Zech M, et al. Mov Disord. 2022 Jan;37(1):137-147. doi: 10.1002/mds.28804. Epub 2021 Oct 1. Mov Disord. 2022. PMID: 34596301
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Bauman… See abstract for full author list ➔ Zech M, et al. Among authors: bardakjian tm. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.
Umano A, Fang K, Qu Z, Scaglione JB, Altinok S, Treadway CJ, Wick ET, Paulakonis E, Karunanayake C, Chou S, Bardakjian TM, Gonzalez-Alegre P, Page RC, Schisler JC, Brown NG, Yan D, Scaglione KM. Umano A, et al. Among authors: bardakjian tm. J Biol Chem. 2022 May;298(5):101899. doi: 10.1016/j.jbc.2022.101899. Epub 2022 Apr 7. J Biol Chem. 2022. PMID: 35398354 Free PMC article.
POLG mutations presenting as Charcot-Marie-Tooth disease.
Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS. Phillips J, et al. J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10. J Peripher Nerv Syst. 2019. PMID: 30843307 Free PMC article.
60 results