Orthmann-Murphy lab members are bolded.
2026
Hannah Katharine Loo, Joseph Gallegos, Chrisine Mialki, Gregory E. Perrin, Thomas Malloy, Jennifer L. Orthmann. Murphy. Depletion of Microglia Increases Cortical Oligodendrocyte Density During Remyelination. 2026 Glia https://doi.org/10.1002/glia.70120
2025
Wong AD, Airas L, Alvarez E, Antel J, Araujo D, Bernard G, Boudjani H, Brais B, Cocozza S, Corboy JR, Fadda G, Imitola J, Lacasse MC, Longbrake EE, Macaron G, Narayanan S, Orthmann-Murphy J, Ortiz Jimenez J, Shor N, Uggetti C, Venkateswaran S, Wilson N; WM Rounds Network; Miller E, La Piana R. Towards a neuroimaging consensus for the workup of adult genetic leukoencephalopathies on behalf of the White Matter Rounds Network: State of Practice. 2025 AJNR doi: 10.3174/ajnr.A9127
van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS. Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. 2025 Neurology Dec 9;105(11):e214320.
doi: 10.1212/WNL.0000000000214320/
Du S, Zhou Y, Li D, Lier J, Cella M, Tada M, Hamasaki H, Wu J, Cai Z, Orthmann-Murphy JL, Kakita A, Kipnis J, Bergner CG, Colonna M. Mutations in the human CSF1R gene impact microglia’s maintenance of brain white matter integrity. 2025 Nat Immunology Jul;26(7):1198-1211. doi: 10.1038/s41590-025-02195-7
Gong D, Orthmann-Murphy JL, Kumar D, Dungan GD, El-Hattab AW, Schiess N, Luo YL, Freidin MM, Abrams CK. Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44. 2025 J Gen Physiol Jul 7;157(4):e202413617. doi: 10.1085/jgp.202413617
Naydovich LR, Orthmann-Murphy JL, Markowitz CE. Beyond relapses: How BTK inhibitors are shaping the future of progressive MS treatment. 2025 Neurotherapeutics Jul;22(4):e00602. doi: 10.1016/j.neurot.2025.e00602
Jones FJS, Pai EL, Magee R, Boylan K, Chioma V, Little J, Yoshor D, Pascual JL, Banihashemi A, Prasad S, Lee EB, Orthmann-Murphy J. Consecutive brain biopsies illustrate the histological evolution of acute hemorrhagic leukoencephalitis. 2025 J Neuropathol Exp Neurol Oct 1;84(10):941-945.
doi: 10.1093/jnen/nlaf019
Paul S Jacobs, Anshuman Swain, Neil Wilson, Fang Liu, Blake Benyard, Bailey Spangler, Madeleine Seitz, Allen Fu, Ravi Prakash Reddy Nanga, Mark A Elliott, Amit Bar-Or, John Detre, Jennifer Orthmann Murphy, Matthew K Schindler, Ravinder Reddy. Diffuse nuclear Overhauser effect MRI contrast changes detected in multiple sclerosis subjects at 7T. 2025 Brain Communications, Volume 7, Issue 1. Published online 20 February 2025
Eunchan Bae, Gregory E. Perrin, Virgilio Gonzenbach, Jennifer L. Orthmann-Murphy and Russell T. Shinohara. FAST: Fast, Free, Consistent, and Unsupervised Oligodendrocyte Segmentation and Tracking System. eNeuro 2025. 9 January 2025, 12 (2) ENEURO.0025-24.2024.
Jones FJ, Edmundson C, Orthmann-Murphy J. A 61-year-old man with weakness and gait dysfunction. JAMA Neurology Clinical Challenge 2025 JAMA Neurol. Published online January 21, 2025. doi:10.1001/jamaneurol.2024.4600
2024
Kornbluh AB, Baldwin A, Fatemi A, Vanderver A, Adang LA, Van Haren K, Sampson J, Eichler FS, Sadjadi R, Engelen M, Orthmann-Murphy JL. Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy. Neurol Genet. 2024 Oct 3;10(5):e200192. doi: 10.1212/NXG.0000000000200192. PMID: 39372123; PMCID: PMC11450743.
Jones FJ, Elser H, Mendez A, Fraser JL, Orthmann-Murphy J. Leukoencephalopathy With Calcifications and Cysts. Neurology. 2024 Nov 12;103(9):e209936. doi: 10.1212/WNL.0000000000209936. Epub 2024 Sep 30. PMID: 39348617.
Jones FJS, Orthmann-Murphy J. Clinical Reasoning: A 26-Year-Old Woman With Chronic Progressive Gait Dysfunction. Neurology. 2024 Oct 8;103(7):e209830. doi: 10.1212/WNL.0000000000209830. Epub 2024 Sep 5. PMID: 39236268; PMCID: PMC11379122.
Sevagamoorthy A, Vanderver A, Fraser JL, Orthmann-Murphy J. Glial Origins of Inherited White Matter Disorders. Cold Spring Harb Perspect Biol. 2024 Aug 12:a041457. doi: 10.1101/cshperspect.a041457
Helman G, Orthmann-Murphy JL, Vanderver A. Approaches to diagnosis for individuals with a suspected inherited white matter disorder. Handb Clin Neurol. 2024;204:21-35. doi: 10.1016/B978-0-323-99209-1.00009-0. PMID: 39322380.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy. 2024 Jul;26(7):739-748. doi: 10.1016/j.jcyt.2024.03.487. Epub 2024 Apr 1. PMID: 38613540; PMCID: PMC11348704.
Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon SC, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts. J Neurol. 2024 Feb;271(2):733-747. doi: 10.1007/s00415-023-12058-6. Epub 2023 Oct 27. PMID: 37891417; PMCID: PMC11095966.
Baldwin A, Copeland J, Azage M, Dratch L, Johnson K, Paul RA, Amado DA, Baer M, Deik A, Elman LB, Guo M, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn CC, Tropea TF, Scherer SS, Shinohara RT, Hamilton RH, Ellis CA. Disparities in Genetic Testing for Neurologic Disorders. Neurology. 2024 Mar 26;102(6):e209161. doi: 10.1212/WNL.0000000000209161. Epub 2024 Mar 6. Erratum in: Neurology. 2024 Jun;102(11):e209480. doi: 10.1212/WNL.0000000000209480. PMID: 38447117; PMCID: PMC11383874.
2023
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. PMID: 36796138.
2022
Bloom MS, Orthmann-Murphy J, Grinspan JB. Motor Learning and Physical Exercise in Adaptive Myelination and Remyelination. ASN Neuro. 2022. doi:10.1177/17590914221097510
Bae E, Orthmann-Murphy JL, Shinohara RT. BOSS: Beta-mixture Unsupervised Oligodendrocytes Segmentation System. bioRxiv. 2022. doi:10.1101/2022.06.17.495689.
2021
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. Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development. Front Neurol. 2022; Feb 3;12:788168. doi: 10.3389/fneur.2021.788168.
Guo MH, Bardakjian TM, Brzozowski MR, Scherer SS, Quinn C, Elman L, Orthmann-Murphy J, Tropea TF, Ellis CA, Gonzalez-Alegre P. Temporal trends and yield of clinical diagnostic genetic testing in adult neurology. American Journal of Medical Genetics Part A, 2021;185A: 2922– 2928. https://doi.org/10.1002/ajmg.a.62372
2020
Dr. Orthmann-Murphy’s Previous Work
Orthmann-Murphy JL, Call CL, Molina-Castro GC, Hsieh YC, Rasband MN, Calabresi PA, Bergles DE. Remyelination alters the pattern of myelin in the cerebral cortex. eLife. 2020;9:e56621. doi:10.7554/eLife.56621
Nahhas N, Conant A, Orthmann-Murphy J, Vanderver A, Hobson G. Pelizaeus-Merzbacher-like disease 1. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. GeneReviews® [Internet]. (eds.) Seattle, WA: University of Washington, Seattle; 2019. https://www.ncbi.nlm.nih.gov/sites/books/NBK470716/?report=classic
Mu W, Schiess N, Orthmann-Murphy JL, El-Hattab AW. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population. J Neurogenet. 2019;33(1):21-26. doi:10.1080/01677063.2018.1555249
Hughes EG, Orthmann-Murphy JL, Langseth AJ, Bergles DE. Myelin remodeling through experience-dependent oligodendrogenesis in the adult somatosensory cortex. Nat Neurosci. 2018;21(5):696-706. doi:10.1038/s41593-018-0121-5
Al Dhaibani MA, El-Hattab AW, Holroyd KB, Orthmann-Murphy JL, Larson VA, Siddiqui KA, Szolics M, Schiess N. Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities. J Neurogenet. 2018;32(1):1-5. doi:10.1080/01677063.2017.1404057
Baxi EG, DeBruin J, Jin J, Stratsburger HJ, Smith MD, Orthmann-Murphy JL, Schott JT, Fairchild AN, Bergles DE, Calabresi PA. Lineage tracing reveals dynamic changes in oligodendrocyte precursor cells following cuprizone-induced demyelination. Glia. 2017;65(12):2087-2098. doi:10.1002/glia.23229
Orthmann-Murphy JL, Calabresi PA. Therapeutic Application of Monoclonal Antibodies in Multiple Sclerosis. Clin Pharmacol Ther. 2017;101(1):52-64. doi:10.1002/cpt.547
Schreck KC, Orthmann-Murphy JL, Newsome SD. Clinical Reasoning: A 70-year-old woman with acute-onset weakness and progressive hemiataxia. Neurology. 2016;87(22):e264-e268. doi:10.1212/WNL.0000000000003377
Jenssen BP, Lautz AJ, Orthmann-Murphy JL, Yum SW, Waanders A, Fox E. A 6-Year-Old With Leg Cramps. Pediatrics. 2015;136(4):732-739. doi:10.1542/peds.2015-0332
Abrams CK, Orthmann-Murphy JL. Connexin mutations in Pelizaeus-Merzbacher-like disease, oculodentodigital dysplasia and related diseases. In: Dere E, editor. Gap Juntions in the Brain. San Diego, CA: Academic Press; 2013;165-187. doi:10.1016/B978-0-12-415901-3.00010-4
Kleopa KA, Orthmann-Murphy J, Sargiannidou I. Gap junction disorders of myelinating cells. Rev Neurosci. 2010;21(5):397-419. doi:10.1515/revneuro.2010.21.5.397
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviana M, Scherer SS, Pareyson D. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009;132(Pt 2):426-438. doi:10.1093/brain/awn328
Orthmann-Murphy JL, Abrams CK, Scherer SS. Gap junctions couple astrocytes and oligodendrocytes. J Mol Neurosci. 2008;35(1):101-116. doi:10.1007/s12031-007-9027-5
Orthmann-Murphy JL, Freidin M, Fischer E, Scherer SS, Abrams CK. Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. J Neurosci. 2007;27(51):13949-13957. doi:10.1523/JNEUROSCI.3395-07.2007
Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS. Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. Mol Cell Neurosci. 2007;34(4):629-641. doi:10.1016/j.mcn.2007.01.010
Orthmann-Murphy Lab 