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Page 1
Myogenic tremor - a novel tremor entity.
Schaefer J, Saak A, Bönnemann CG, Jackson S. Schaefer J, et al. Among authors: jackson s. Curr Opin Neurol. 2021 Oct 1;34(5):706-713. doi: 10.1097/WCO.0000000000000976. Curr Opin Neurol. 2021. PMID: 34292195 Review.
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Stavusis J, Lace B, Schäfer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bönnemann CG. Stavusis J, et al. Among authors: jackson s. Ann Neurol. 2019 Jul;86(1):129-142. doi: 10.1002/ana.25494. Epub 2019 May 17. Ann Neurol. 2019. PMID: 31025394 Free PMC article.
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.
Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou C, Casado M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch R, Cabo R, Jackson S, Navas P. Vázquez-Fonseca L, et al. Among authors: jackson s. J Clin Med. 2019 Sep 2;8(9):1374. doi: 10.3390/jcm8091374. J Clin Med. 2019. PMID: 31480808 Free PMC article.
Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming.
Villanueva-Paz M, Povea-Cabello S, Villalón-García I, Suárez-Rivero JM, Álvarez-Córdoba M, de la Mata M, Talaverón-Rey M, Jackson S, Sánchez-Alcázar JA. Villanueva-Paz M, et al. Among authors: jackson s. Biochim Biophys Acta Mol Cell Res. 2019 May;1866(5):861-881. doi: 10.1016/j.bbamcr.2019.02.010. Epub 2019 Feb 22. Biochim Biophys Acta Mol Cell Res. 2019. PMID: 30797798 Free article.
Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome.
Villanueva-Paz M, Povea-Cabello S, Villalón-García I, Álvarez-Córdoba M, Suárez-Rivero JM, Talaverón-Rey M, Jackson S, Falcón-Moya R, Rodríguez-Moreno A, Sánchez-Alcázar JA. Villanueva-Paz M, et al. Among authors: jackson s. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165726. doi: 10.1016/j.bbadis.2020.165726. Epub 2020 Feb 13. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32061767 Free article.
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H. Schmiedel J, et al. Among authors: jackson s. J Neurol. 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. J Neurol. 2003. PMID: 12638015 Review.
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. Altmann J, et al. Among authors: jackson s. J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19. J Neurol. 2016. PMID: 26995359
4,814 results