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Comment
. 2021 Jan;36(1):84.
doi: 10.1002/mds.28420. Epub 2020 Dec 7.

Monogenic Causes of Dystonic Syndromes: Common in Dystonic Cerebral Palsy, Rare in Isolated Dystonia

Lara Mariah Lange  1 , Christine Klein  1
Affiliations
Comment

Monogenic Causes of Dystonic Syndromes: Common in Dystonic Cerebral Palsy, Rare in Isolated Dystonia

Lara Mariah Lange et al. Mov Disord. 2021 Jan.
No abstract available

Keywords: dystonic cerebral palsy; exome sequencing; genetic testing; monogenic dystonia.

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Comment on

  • 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-Baumann A, Pl… See abstract for full author list ➔ Zech M, et al. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.

References

    1. Waddy HM, Fletcher NA, Harding AE, Marsden CD. A genetic study of idiopathic focal dystonias. Ann Neurol 1991;29(3):320-324.
    1. Zech M, Jech R, Boesch S, et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 2020;19(11):908-918.
    1. Domingo A, Erro R, Lohmann K. Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing. Mov Disord 2016;31(4):471-477.
    1. Balint B, Mencacci NE, Valente EM, et al. Dystonia. Nat Rev Dis Primers 2018;4(1):25.
    1. Ohlei O, Dobricic V, Lohmann K, Klein C, Lill CM, Bertram L. Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia. Parkinsonism Relat Disord 2018;57:50-57.