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1,069 results
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Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H. Schmiedel J, et al. Among authors: schafer j. 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: schafer j. J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19. J Neurol. 2016. PMID: 26995359
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: schafer j. 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.
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N. Trinh J, et al. Among authors: schafer j. J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20. J Neurol. 2020. PMID: 31745726
Neuropathy following abuse of nitrous oxide.
Layzer RB, Fishman RA, Schafer JA. Layzer RB, et al. Among authors: schafer ja. Neurology. 1978 May;28(5):504-6. doi: 10.1212/wnl.28.5.504. Neurology. 1978. PMID: 205816
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