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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Serum miRNAs as biomarkers for the rare types of muscular dystrophy.
Koutsoulidou A, Koutalianos D, Georgiou K, Kakouri AC, Oulas A, Tomazou M, Kyriakides TC, Roos A, Papadimas GK, Papadopoulos C, Kararizou E, Spyrou GM, Zamba Papanicolaou E, Lochmüller H, Phylactou LA. Koutsoulidou A, et al. Neuromuscul Disord. 2022 Apr;32(4):332-346. doi: 10.1016/j.nmd.2022.03.003. Epub 2022 Mar 11. Neuromuscul Disord. 2022. PMID: 35393236 Free article.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights.
Kakouri AC, Koutalianos D, Koutsoulidou A, Oulas A, Tomazou M, Nikolenko N, Turner C, Roos A, Lusakowska A, Janiszewska K, Papadimas GK, Papadopoulos C, Kararizou E, Papanicolaou EZ, Gorman G, Lochmüller H, Spyrou GM, Phylactou LA. Kakouri AC, et al. RNA Biol. 2022;19(1):507-518. doi: 10.1080/15476286.2022.2058817. Epub 2021 Dec 31. RNA Biol. 2022. PMID: 35388741 Free PMC article.
Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation.
Lam DD, Williams RH, Lujan E, Tanabe K, Huber G, Saw NL, Merl-Pham J, Salminen AV, Lohse D, Spendiff S, Plastini MJ, Zech M, Lochmüller H, Geerlof A, Hauck SM, Shamloo M, Wernig M, Winkelmann J. Lam DD, et al. J Neurosci. 2022 Feb 23;42(8):1557-1573. doi: 10.1523/JNEUROSCI.0962-21.2021. Epub 2021 Dec 27. J Neurosci. 2022. PMID: 34965974 Free PMC article.
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B. Vogt G, et al. J Inherit Metab Dis. 2021 Jul;44(4):972-986. doi: 10.1002/jimd.12341. Epub 2021 Feb 4. J Inherit Metab Dis. 2021. PMID: 33320377 Free PMC article.
16 results