Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

4,691 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
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.
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.
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.
Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.
De la Mata M, Garrido-Maraver J, Cotán D, Cordero MD, Oropesa-Ávila M, Izquierdo LG, De Miguel M, Lorite JB, Infante ER, Ybot P, Jackson S, Sánchez-Alcázar JA. De la Mata M, et al. Among authors: jackson s. Neurotherapeutics. 2012 Apr;9(2):446-63. doi: 10.1007/s13311-012-0103-3. Neurotherapeutics. 2012. PMID: 22354625 Free PMC article.
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.
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.
4,691 results