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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 2
2008 2
2009 2
2010 1
2011 4
2012 3
2013 2
2014 1
2015 2
2016 7
2017 6
2018 4
2019 2
2020 2
2021 2
2022 3
2023 3
2024 2

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46 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: iuso 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.
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
Zanuttigh E, Derderian K, Güra MA, Geerlof A, Di Meo I, Cavestro C, Hempfling S, Ortiz-Collazos S, Mauthe M, Kmieć T, Cammarota E, Panzeri MC, Klopstock T, Sattler M, Winkelmann J, Messias AC, Iuso A. Zanuttigh E, et al. Among authors: iuso a. Pharmaceutics. 2023 Jan 12;15(1):267. doi: 10.3390/pharmaceutics15010267. Pharmaceutics. 2023. PMID: 36678896 Free PMC article.
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Biagosch CA, Vidali S, Faerberboeck M, Hensler SV, Becker L, Amarie OV, Aguilar-Pimentel A, Garrett L, Klein-Rodewald T, Rathkolb B, Zanuttigh E, Calzada-Wack J, da Silva-Buttkus P, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Janik D, Wurst W, Mayr JA, Klopstock T, Meitinger T, Prokisch H, Iuso A. Biagosch CA, et al. Among authors: iuso a. Mamm Genome. 2021 Oct;32(5):332-349. doi: 10.1007/s00335-021-09875-3. Epub 2021 May 27. Mamm Genome. 2021. PMID: 34043061 Free PMC article.
A spatiotemporal proteomic map of human adipogenesis.
Klingelhuber F, Frendo-Cumbo S, Omar-Hmeadi M, Massier L, Kakimoto P, Taylor AJ, Couchet M, Ribicic S, Wabitsch M, Messias AC, Iuso A, Müller TD, Rydén M, Mejhert N, Krahmer N. Klingelhuber F, et al. Among authors: iuso a. Nat Metab. 2024 Apr 2. doi: 10.1038/s42255-024-01025-8. Online ahead of print. Nat Metab. 2024. PMID: 38565923
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
Papa S, Petruzzella V, Scacco S, Sardanelli AM, Iuso A, Panelli D, Vitale R, Trentadue R, De Rasmo D, Capitanio N, Piccoli C, Papa F, Scivetti M, Bertini E, Rizza T, De Michele G. Papa S, et al. Among authors: iuso a. Biochim Biophys Acta. 2009 May;1787(5):502-17. doi: 10.1016/j.bbabio.2008.12.018. Epub 2009 Jan 10. Biochim Biophys Acta. 2009. PMID: 19210954 Free article. Review.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Lok A, Fernandez-Garcia MA, Taylor RW, French C, MacFarland R, Bodi I, Champion M, Josifova D, Raymond FL, Iuso A, Jungbluth H, Milan A, Singh RR. Lok A, et al. Among authors: iuso a. Am J Med Genet A. 2022 Sep;188(9):2783-2789. doi: 10.1002/ajmg.a.62848. Epub 2022 May 26. Am J Med Genet A. 2022. PMID: 35616428
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y. Iuso A, et al. Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10. Am J Hum Genet. 2018. PMID: 29754768 Free PMC article.
46 results