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65 results

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Page 1
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.
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon SC, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. Dratch L, et al. Among authors: bardakjian tm. J Neurol. 2024 Feb;271(2):733-747. doi: 10.1007/s00415-023-12058-6. Epub 2023 Oct 27. J Neurol. 2024. PMID: 37891417 Free PMC article. Review.
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.
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, Gommaraschi S, Gonzalez-Alegre P, Bardakjian T, Syrbe S, Schuler E, Lemke JR, Vari S, Roende G, Bak M, Huq M, Powis Z, Johannesen KM, Hammer TB, Møller RS, Rabin R, Pappas J, Zupanc ML, Zadeh N, Cohen J, Naidu S, Krey I, Saneto R, Thies J, Licchetta L, Tinuper P, Bisulli F, Minardi R, Bayat A, Villeneuve N, Molinari F, Salimi Dafsari H, Moller B, Le Roux M, Houdayer C, Vecchi M, Mammi I, Fiorini E, Proietti J, Ferri S, Cantalupo G, Battaglia DI, Gambardella ML, Contaldo I, Brogna C, Trivisano M, De Dominicis A, Bova SM, Gardella E, Striano P, Coppola A. Cuccurullo C, et al. Among authors: bardakjian t. Epilepsia. 2024 Sep;65(9):2728-2750. doi: 10.1111/epi.18054. Epub 2024 Jul 2. Epilepsia. 2024. PMID: 38953796
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Brooker SM, Novelli M, Coukos R, Prakash N, Kamel WA, Amengual-Gual M, Anheim M, Barcia G, Bardakjian T, Baur F, Berweck S, Bölsterli BK, Brugger M, Cassini T, Chatron N, Corner B, Dafsari HS, de Sainte Agathe JM, Ellis CA, Ezell KM, Foucard C, Frucht SJ, Garcia MC, Gill D, Guimier A, Hamid R, Heine-Suñer D, Herkenrath P, Hully M, Isaias IU, Januel L, Laurencin C, Laut T, Lavillaureix A, Lesca G, Lesieur-Sebellin M, Magistrelli L, Marelli C, Mefford HC, Mendelsohn BA, Mercimek-Andrews S, Miller C, Mohammad SS, Morgante F, Nandipati S, Opladen T, Padmanaban M, Pauni M, Pezzoli G, Piton A, Ramond F, Riboldi GM, Rougeot-Jung C, Santos-Simarro F, Scheffer IE, Serari N, Stahl CM, Kung AS, Tarongí Sanchez S, Thauvin-Robinet C, Till M, Tranchant C, Troedson C, Tropea TF, Vanakker O, Vega P, Wiese ML, Wieshmann U, Williams LJ, Wirth T, Zech M, Zempel H, Roze E, Leuzzi V, Galosi S, Fung VSC, Carvill G, Krainc D, Gerard E, Mencacci NE. Brooker SM, et al. Among authors: bardakjian t. Ann Neurol. 2025 Sep;98(3):561-572. doi: 10.1002/ana.27272. Epub 2025 Jul 1. Ann Neurol. 2025. PMID: 40590478 Free PMC article.
The genetics of anophthalmia and microphthalmia.
Bardakjian TM, Schneider A. Bardakjian TM, et al. Curr Opin Ophthalmol. 2011 Sep;22(5):309-13. doi: 10.1097/ICU.0b013e328349b004. Curr Opin Ophthalmol. 2011. PMID: 21825993 Review.
Ocular manifestations of PACS1 mutation.
Pefkianaki M, Schneider A, Capasso JE, Wasserman BN, Bardakjian T, Levin AV. Pefkianaki M, et al. Among authors: bardakjian t. J AAPOS. 2018 Aug;22(4):323-325. doi: 10.1016/j.jaapos.2017.12.008. Epub 2018 Mar 14. J AAPOS. 2018. PMID: 29550517
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.
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. Among authors: bardakjian t. 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.
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Merepa SS, Reis LM, Damián A, Bardakjian T, Schneider A, Trujillo-Tiebas MJ, Ayuso C, Galarza LC, Saez Villaverde R, Ortiz-Cabrera NV, Bax DA, Holt R, Ceroni F, Edery P, Grelet M, Riccardi F, Maillard L, Costakos D, Plaisancié J, Chassaing N, Corton M, Semina EV, Ragge NK. Merepa SS, et al. Among authors: bardakjian t. Eur J Hum Genet. 2025 Jul;33(7):860-869. doi: 10.1038/s41431-025-01843-8. Epub 2025 Apr 30. Eur J Hum Genet. 2025. PMID: 40301690 Free PMC article.
65 results