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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: hackenberg a. 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 role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A. Papuc SM, et al. Among authors: hackenberg a. Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552426 Free PMC article.
High association of MOG-IgG antibodies in children with bilateral optic neuritis.
Wendel EM, Baumann M, Barisic N, Blaschek A, Coelho de Oliveira Koch E, Della Marina A, Diepold K, Hackenberg A, Hahn A, von Kalle T, Karenfort M, Kornek B, Lechner C, Leiz S, Merkenschlager A, Nosadini M, Sartori S, Schanda K, Schimmel M, Seemann L, Tüngler V, Waltz S, Wegener-Panzer A, Wiegand G, Reindl M, Rostásy K. Wendel EM, et al. Among authors: hackenberg a. Eur J Paediatr Neurol. 2020 Jul;27:86-93. doi: 10.1016/j.ejpn.2020.04.002. Epub 2020 Apr 15. Eur J Paediatr Neurol. 2020. PMID: 32327391
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. Meng L, et al. Among authors: hackenberg a. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. Ann Neurol. 2021. PMID: 33443317 Free article.
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Mirza-Schreiber N, et al. Among authors: hackenberg a. Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360. Brain. 2022. PMID: 34590685
MR imaging in children with transverse myelitis and acquired demyelinating syndromes.
El Naggar I, Cleaveland R, Wendel EM, Bertolini A, Schanda K, Karenfort M, Thiels C, Della Marina A, Schimmel M, Leiz S, Lechner C, Baumann M, Reindl M, Wegener-Panzer A, Rostásy K; on-behalf-of-the-BIOMARKER-Study-Group. El Naggar I, et al. Mult Scler Relat Disord. 2022 Nov;67:104068. doi: 10.1016/j.msard.2022.104068. Epub 2022 Jul 22. Mult Scler Relat Disord. 2022. PMID: 35933757
65 results