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Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
Papapetropoulos S, Pontius A, Finger E, Karrenbauer V, Lynch DS, Brennan M, Zappia S, Koehler W, Schoels L, Hayer SN, Konno T, Ikeuchi T, Lund T, Orthmann-Murphy J, Eichler F, Wszolek ZK. Papapetropoulos S, et al. Among authors: orthmann murphy j. Front Neurol. 2022 Feb 3;12:788168. doi: 10.3389/fneur.2021.788168. eCollection 2021. Front Neurol. 2022. PMID: 35185751 Free PMC article. Review.
Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
Guo MH, Bardakjian TM, Brzozowski MR, Scherer SS, Quinn C, Elman L, Orthmann-Murphy J, Tropea TF, Ellis CA, Gonzalez-Alegre P. Guo MH, et al. Among authors: orthmann murphy j. Am J Med Genet A. 2021 Oct;185(10):2922-2928. doi: 10.1002/ajmg.a.62372. Epub 2021 Jun 2. Am J Med Genet A. 2021. PMID: 34075706
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D. Orthmann-Murphy JL, et al. Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4. Brain. 2009. PMID: 19056803 Free PMC article.
Gap junctions couple astrocytes and oligodendrocytes.
Orthmann-Murphy JL, Abrams CK, Scherer SS. Orthmann-Murphy JL, et al. J Mol Neurosci. 2008 May;35(1):101-16. doi: 10.1007/s12031-007-9027-5. J Mol Neurosci. 2008. PMID: 18236012 Free PMC article. Review.
Gap junction disorders of myelinating cells.
Kleopa KA, Orthmann-Murphy J, Sargiannidou I. Kleopa KA, et al. Rev Neurosci. 2010;21(5):397-419. doi: 10.1515/revneuro.2010.21.5.397. Rev Neurosci. 2010. PMID: 21280457 Review.
21 results