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4. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Zech M; Boesch S; Maier EM; Borggraefe I; Vill K; Laccone F; Pilshofer V; Ceballos-Baumann A; Alhaddad B; Berutti R; Poewe W; Haack TB; Haslinger B; Strom TM; Winkelmann J Am J Hum Genet; 2016 Dec; 99(6):1377-1387. PubMed ID: 27839873 [TBL] [Abstract][Full Text] [Related]
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8. Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants". Indelicato E; Boesch S; Zech M Mov Disord; 2023 Jun; 38(6):1119-1120. PubMed ID: 37475612 [No Abstract] [Full Text] [Related]
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10. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. Garavaglia B; Vallian S; Romito LM; Straccia G; Capecci M; Invernizzi F; Andrenelli E; Kazemi A; Boesch S; Kopajtich R; Olfati N; Shariati M; Shoeibi A; Sadr-Nabavi A; Prokisch H; Winkelmann J; Zech M Parkinsonism Relat Disord; 2022 Apr; 97():52-56. PubMed ID: 35306330 [TBL] [Abstract][Full Text] [Related]
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