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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. Among authors: lochmuller h. 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.
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J. Zech M, et al. Among authors: lochmuller h. Am J Hum Genet. 2015 Jun 4;96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21. Am J Hum Genet. 2015. PMID: 26004199 Free PMC article.
Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome.
Spendiff S, Howarth R, McMacken G, Davey T, Quinlan K, O'Connor E, Slater C, Hettwer S, Mäder A, Roos A, Horvath R, Lochmüller H. Spendiff S, et al. Among authors: lochmuller h. Front Mol Neurosci. 2020 Dec 17;13:594220. doi: 10.3389/fnmol.2020.594220. eCollection 2020. Front Mol Neurosci. 2020. PMID: 33390901 Free PMC article.
668 results