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Page 1
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: boesch s. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
Illsinger S, Korenke GC, Boesch S, Nocker M, Karall D, Nuoffer JM, Laugwitz L, Mayr JA, Scholl-Bürgi S, Freisinger P, Kowald T, Kölker S, Prokisch H, Haack TB. Illsinger S, et al. Among authors: boesch s. Eur J Med Genet. 2020 Nov;63(11):104046. doi: 10.1016/j.ejmg.2020.104046. Epub 2020 Aug 26. Eur J Med Genet. 2020. PMID: 32858208
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H. Zech M, et al. Among authors: boesch s. Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20. Ann Neurol. 2022. PMID: 34954817 Free PMC article.
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. Garavaglia B, et al. Among authors: boesch s. Parkinsonism Relat Disord. 2022 Apr;97:52-56. doi: 10.1016/j.parkreldis.2022.03.007. Epub 2022 Mar 16. Parkinsonism Relat Disord. 2022. PMID: 35306330
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
Indelicato E, Boesch S, Mencacci NE, Ghezzi D, Prokisch H, Winkelmann J, Zech M. Indelicato E, et al. Among authors: boesch s. Mov Disord. 2024 Jan;39(1):29-35. doi: 10.1002/mds.29657. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964479 Free article. No abstract available.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Among authors: boesch s. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
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: boesch s. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
205 results