Research output per year
Research output per year
- 1 - 50 out of 224 results
Search results
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2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
Undiagnosed Diseases Network, Jan 2025, In: Molecular genetics and metabolism. 144, 1, 109004.Research output: Contribution to journal › Article › peer-review
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Case report: Molecular characterization of adult atypical teratoid rhabdoid tumor and review of the literature
Hernandez-Rovira, M. A., Connor, M., Osorio, R. C., Russler-Germain, E., Schmidt, R., Johnson, G. W., Silverstein, J., Dahiya, S., Farrell, N. F., Weiss, M. C., Zipfel, G. J., Huang, J. & Mathios, D., 2025, In: Frontiers in Oncology. 15, 1510439.Research output: Contribution to journal › Article › peer-review
Open Access -
Pmp2+ Schwann Cells Maintain the Survival of Large-Caliber Motor Axons
Kozlowski, M. M., Strickland, A., Benitez, A. M., Schmidt, R. E., Bloom, A. J., Milbrandt, J. & DiAntonio, A., Mar 26 2025, In: Journal of Neuroscience. 45, 13, e1362242025.Research output: Contribution to journal › Article › peer-review
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2023
Schwann Cell Remyelination in the Multiple Sclerosis Central Nervous System
Ghezzi, L., Bollman, B., De Feo, L., Piccio, L., Trapp, B. D., Schmidt, R. E. & Cross, A. H., Jun 2023, In: Laboratory Investigation. 103, 6, 100128.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Schwann cells and myelin in human peripheral nerve: Major protein components vary with age, axon size and pathology
Pestronk, A., Schmidt, R. E., Bucelli, R. & Sim, J., Apr 2023, In: Neuropathology and Applied Neurobiology. 49, 2, e12898.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
Sleep deprivation exacerbates microglial reactivity and Aβ deposition in a TREM2-dependent manner in mice
Parhizkar, S., Gent, G., Chen, Y., Rensing, N., Gratuze, M., Strout, G., Sviben, S., Tycksen, E., Zhang, Q., Gilmore, P. E., Sprung, R., Malone, J., Chen, W., Serrano, J. R., Bao, X., Lee, C., Wang, C., Landsness, E., Fitzpatrick, J. & Wong, M. & 4 others, , 2023, In: Science translational medicine. 15, 693, eade6285.Research output: Contribution to journal › Article › peer-review
Open Access42 Scopus citations -
2022
Evaluating brain damage in multiple sclerosis with simultaneous multi-angular-relaxometry of tissue
Xiang, B., Wen, J., Schmidt, R. E., Sukstanskii, A. L., Mamah, D., Yablonskiy, D. A. & Cross, A. H., Oct 2022, In: Annals of Clinical and Translational Neurology. 9, 10, p. 1514-1527 14 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Loss of Stathmin-2, a hallmark of TDP-43-associated ALS, causes motor neuropathy
Krus, K. L., Strickland, A., Yamada, Y., Devault, L., Schmidt, R. E., Bloom, A. J., Milbrandt, J. & DiAntonio, A., Jun 28 2022, In: Cell Reports. 39, 13, 111001.Research output: Contribution to journal › Article › peer-review
Open Access51 Scopus citations -
Macrophage depletion blocks congenital SARM1-dependent neuropathy
Dingwall, C. B., Strickland, A., Yum, S. W., Yim, A. K. Y., Zhu, J., Wang, P. L., Yamada, Y., Schmidt, R. E., Sasaki, Y., Joseph Bloom, A., DiAntonio, A. & Milbrandt, J., Dec 1 2022, In: Journal of Clinical Investigation. 132, 23, e159800.Research output: Contribution to journal › Article › peer-review
Open Access17 Scopus citations -
Severe acute neurotoxicity reflects absolute intra-carotid 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine dose in non-human primates
Norris, S. A., White, H. C. B., Tanenbaum, A., Williams, E. L., Cruchaga, C., Tian, L., Schmidt, R. E. & Perlmutter, J. S., Jan 15 2022, In: Journal of Neuroscience Methods. 366, 109406.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Xanthogranulomatous epithelial tumors and keratin-positive giant cell-rich soft tissue tumors: two aspects of a single entity with frequent HMGA2-NCOR2 fusions
Dehner, C. A., Baker, J. C., Bell, R., Dickson, B. C., Schmidt, R. E., Demicco, E. G. & Chrisinger, J. S. A., Nov 2022, In: Modern Pathology. 35, 11, p. 1656-1666 11 p.Research output: Contribution to journal › Article › peer-review
Open Access21 Scopus citations -
2021
Overexpressing low-density lipoprotein receptor reduces tau-associated neurodegeneration in relation to apoE-linked mechanisms
Shi, Y., Andhey, P. S., Ising, C., Wang, K., Snipes, L. L., Boyer, K., Lawson, S., Yamada, K., Qin, W., Manis, M., Serrano, J. R., Benitez, B. A., Schmidt, R. E., Artyomov, M., Ulrich, J. D. & Holtzman, D. M., Aug 4 2021, In: Neuron. 109, 15, p. 2413-2426.e7Research output: Contribution to journal › Article › peer-review
Open Access83 Scopus citations -
2020
In vivo evolution of biopsy-proven inflammatory demyelination quantified by R2t* mapping
Xiang, B., Wen, J., Lu, H. C., Schmidt, R. E., Yablonskiy, D. A. & Cross, A. H., Jun 1 2020, In: Annals of Clinical and Translational Neurology. 7, 6, p. 1055-1060 6 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
Members of Undiagnosed Diseases Network, May 20 2020, In: Neuron. 106, 4, p. 589-606.e6Research output: Contribution to journal › Article › peer-review
Open Access85 Scopus citations -
Peripheral nerve injury and sensitization underlie pain associated with oral cancer perineural invasion
Salvo, E., Campana, W. M., Scheff, N. N., Nguyen, T. H., Jeong, S. H., Wall, I., Wu, A. K., Zhang, S., Kim, H., Bhattacharya, A., Janal, M. N., Liu, C., Albertson, D. G., Schmidt, B. L., Dolan, J. C., Schmidt, R. E., Boada, M. D. & Ye, Y., Nov 1 2020, In: Pain. 161, 11, p. 2592-2602 11 p.Research output: Contribution to journal › Article › peer-review
Open Access34 Scopus citations -
Therapeutic enhancement of blood-brain and blood-Tumor barriers permeability by laser interstitial thermal therapy
Salehi, A., Paturu, M. R., Patel, B., Cain, M. D., Mahlokozera, T., Yang, A. B., Lin, T. H., Leuthardt, E. C., Yano, H., Song, S. K., Klein, R. S., Schmidt, R. & Kim, A. H., Jan 1 2020, In: Neuro-Oncology Advances. 2, 1, vdaa071.Research output: Contribution to journal › Article › peer-review
Open Access63 Scopus citations -
Treatment of Progressive Multifocal Leukoencephalopathy Using Immune Restoration
Dunham, S. R., Schmidt, R. & Clifford, D. B., Jul 1 2020, In: Neurotherapeutics. 17, 3, p. 955-965 11 p.Research output: Contribution to journal › Article › peer-review
Open Access21 Scopus citations -
2019
Acute Posterior Multifocal Placoid Pigment Epitheliopathy Complicated by Fatal Cerebral Vasculitis
Maamari, R. N., Stunkel, L., Kung, N. H., Ferguson, C. J., Tanabe, J., Schmidt, R. E., Dahiya, S., Dhand, A., Van Stavern, G. P., Rajagopal, R. & Harocopos, G. J., Jun 1 2019, In: Journal of Neuro-Ophthalmology. 39, 2, p. 260-267 8 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema
Schweitzer, G. G., Gan, C., Bucelli, R. C., Wegner, D., Schmidt, R. E., Shinawi, M., Finck, B. N. & Brookheart, R. T., Jul 2019, In: Molecular Genetics and Genomic Medicine. 7, 7, e00733.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
Complex patterns of GABAergic neuronal deficiency and type 2 potassium-chloride cotransporter immaturity in human focal cortical dysplasia
Han, P., Welsh, C. T., Smith, M. T., Schmidt, R. E. & Carroll, S. L., Apr 1 2019, In: Journal of neuropathology and experimental neurology. 78, 4, p. 365-372 8 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Diffusion basis spectrum imaging for identifying pathologies in MS subtypes
Shirani, A., Sun, P., Trinkaus, K., Perantie, D. C., George, A., Naismith, R. T., Schmidt, R. E., Song, S. K. & Cross, A. H., Nov 1 2019, In: Annals of Clinical and Translational Neurology. 6, 11, p. 2323-2327 5 p.Research output: Contribution to journal › Article › peer-review
Open Access20 Scopus citations -
Histopathological correlation of diffusion basis spectrum imaging metrics of a biopsy-proven inflammatory demyelinating brain lesion: A brief report
Shirani, A., Sun, P., Schmidt, R. E., Trinkaus, K., Naismith, R. T., Song, S. K. & Cross, A. H., Dec 1 2019, In: Multiple Sclerosis Journal. 25, 14, p. 1937-1941 5 p.Research output: Contribution to journal › Article › peer-review
Open Access15 Scopus citations -
Immune myopathy with large histiocyte-related myofiber necrosis
Pestronk, A., Sinha, N., Alhumayyd, Z., Ly, C., Schmidt, R. & Bucelli, R., Apr 9 2019, In: Neurology. 92, 15, p. e1763-e1772Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Mitochondriopathy: The unifying concept in distal neuropathies?
Schmidt, R. E., 2019, International Review of Neurobiology. Fernyhough, P. & Calcutt, N. A. (eds.). Academic Press Inc., p. 1-12 12 p. (International Review of Neurobiology; vol. 145).Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review
3 Scopus citations -
Pituitary adenoma in pediatric and adolescent populations
Chen, J., Schmidt, R. E. & Dahiya, S., Jul 1 2019, In: Journal of neuropathology and experimental neurology. 78, 7, p. 626-632 7 p.Research output: Contribution to journal › Article › peer-review
Open Access27 Scopus citations -
Progressive multifocal leukoencephalopathy treated with nivolumab
Hoang, E., Bartlett, N. L., Goyal, M. S., Schmidt, R. E. & Clifford, D. B., Apr 2019, In: Journal of NeuroVirology. 25, 2, p. 284-287 4 p.Research output: Contribution to journal › Article › peer-review
Open Access38 Scopus citations -
2018
24 - White Matter and Myelin Disorders
Schmidt, R. E., 2018, Practical Surgical Neuropathology: A Diagnostic Approach A Volume in the Pattern Recognition Series. Elsevier Inc., p. 581-616 36 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review
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A 60-Year-Old Woman with Multifocal Subcortical Infarcts
Schwetye, K. E., Rodriguez, D., Schmidt, R. E. & Dahiya, S., Jan 2018, In: Brain Pathology. 28, 1, p. 131-132 2 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Amyloid-β Plaques in clinical Alzheimer's disease brain incorporate stable isotope tracer in vivo and exhibit nanoscale heterogeneity
Wildburger, N. C., Gyngard, F., Guillermier, C., Patterson, B. W., Elbert, D., Mawuenyega, K. G., Schneider, T., Green, K., Roth, R., Schmidt, R. E., Cairns, N. J., Benzinger, T. L. S., Steinhauser, M. L. & Bateman, R. J., Mar 22 2018, In: Frontiers in Neurology. 9, MAR, 169.Research output: Contribution to journal › Article › peer-review
Open Access25 Scopus citations -
An 8-Year-Old Girl with A Supratentorial Mass
Schwetye, K. E., Gauvain, K., Rodriguez, D., Cottrell, C., Limbrick, D. D., Schmidt, R. E. & Dahiya, S., Jan 2018, In: Brain Pathology. 28, 1, p. 125-126 2 p.Research output: Contribution to journal › Comment/debate
Open Access -
Analysis of point mutations and copy number variation in Grade II and III meningioma
McNulty, S. N., Schwetye, K., Goldstein, M., Carter, J., Schmidt, R. E., Ansstas, G., Tsien, C. I., Kim, A. H. & Dahiya, S., Dec 2018, In: Experimental and Molecular Pathology. 105, 3, p. 328-333 6 p.Research output: Contribution to journal › Article › peer-review
17 Scopus citations -
Astrocytic degeneration in chronic traumatic encephalopathy
Hsu, E. T., Gangolli, M., Su, S., Holleran, L., Stein, T. D., Alvarez, V. E., McKee, A. C., Schmidt, R. E. & Brody, D. L., Dec 1 2018, In: Acta Neuropathologica. 136, 6, p. 955-972 18 p.Research output: Contribution to journal › Article › peer-review
49 Scopus citations -
Autoimmune Encephalitis with Multiple Autoantibodies: A Diagnostic and Therapeutic Challenge
Kim, A. E., Kang, P., Bucelli, R. C., Ferguson, C. J., Schmidt, R. E., Varadhachary, A. S. & Day, G. S., 2018, In: Neurologist. 23, 2, p. 55-59 5 p.Research output: Contribution to journal › Article › peer-review
14 Scopus citations -
Non-meningothelial meningeal tumours with meningioangiomatosis-like pattern of spread
Iorgulescu, J. B., Ferris, S., Agarwal, A., Casavilca Zambrano, S., Hill, D. A., Schmidt, R. & Perry, A., Dec 2018, In: Neuropathology and Applied Neurobiology. 44, 7, p. 743-746 4 p.Research output: Contribution to journal › Letter › peer-review
Open Access6 Scopus citations -
TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia
Kothari, P. H., Kolar, G. R., Jen, J. C., Hajj-Ali, R., Bertram, P., Schmidt, R. E. & Atkinson, J. P., Nov 2018, In: Brain Pathology. 28, 6, p. 806-821 16 p.Research output: Contribution to journal › Article › peer-review
Open Access15 Scopus citations -
2017
A 12-Year-Old Girl With Encephalopathy and Acute Flaccid Paralysis: A Neuropathological Correlation and Cohort Review
Kim, Y. M., Orvedahl, A., Morris, S., Schmidt, R. & Mar, S., Jan 1 2017, In: Pediatric Neurology. 66, p. 5-11 7 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
A 42-Year-Old Man with AIDS and Multiple Incomplete Ring Enhancing Lesions
Kang, P., Schmidt, R. E., Dahiya, S. & Varadhachary, A. S., Sep 2017, In: Brain Pathology. 27, 5, p. 697-698 2 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Can anti-vascular endothelial growth factor antibody reverse radiation necrosis? A preclinical investigation
Duan, C., Perez-Torres, C. J., Yuan, L., Engelbach, J. A., Beeman, S. C., Tsien, C. I., Rich, K. M., Schmidt, R. E., Ackerman, J. J. H. & Garbow, J. R., May 1 2017, In: Journal of Neuro-Oncology. 133, 1, p. 9-16 8 p.Research output: Contribution to journal › Article › peer-review
17 Scopus citations -
Diffusion MRI quantifies early axonal loss in the presence of nerve swelling
Lin, T. H., Chiang, C. W., Perez-Torres, C. J., Sun, P., Wallendorf, M., Schmidt, R. E., Cross, A. H. & Song, S. K., Apr 7 2017, In: Journal of Neuroinflammation. 14, 1, 78.Research output: Contribution to journal › Article › peer-review
Open Access34 Scopus citations -
JC virus granule cell neuronopathy in the setting of chronic lymphopenia treated with recombinant interleukin-7
Soleimani-Meigooni, D. N., Schwetye, K. E., Angeles, M. R., Ryschkewitsch, C. F., Major, E. O., Dang, X., Koralnik, I. J., Schmidt, R. E., Clifford, D. B., Kuhlmann, F. M. & Bucelli, R. C., Feb 1 2017, In: Journal of NeuroVirology. 23, 1, p. 141-146 6 p.Research output: Contribution to journal › Article › peer-review
Open Access17 Scopus citations -
Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)
Wambach, J. A., Stettner, G. M., Haack, T. B., Writzl, K., Škofljanec, A., Maver, A., Munell, F., Ossowski, S., Bosio, M., Wegner, D. J., Shinawi, M., Baldridge, D., Alhaddad, B., Strom, T. M., Grange, D. K., Wilichowski, E., Troxell, R., Collins, J., Warner, B. B. & Schmidt, R. E. & 3 others, , Nov 2017, In: Human mutation. 38, 11, p. 1477-1484 8 p.Research output: Contribution to journal › Article › peer-review
Open Access19 Scopus citations -
Synergistic effects of treating the spinal cord and brain in CLN1 disease
Shyng, C., Nelvagal, H. R., Dearborn, J. T., Tyynelä, J., Schmidt, R. E., Sands, M. S. & Cooper, J. D., Jul 18 2017, In: Proceedings of the National Academy of Sciences of the United States of America. 114, 29, p. E5920-E5929Research output: Contribution to journal › Article › peer-review
Open Access46 Scopus citations -
The role of post-mortem MRI in the neonatal intensive care unit
Leadbetter, K. Z., Vesoulis, Z. A., White, F. V., Schmidt, R. E., Khanna, G., Shimony, J. S. & Mathur, A. M., Jan 1 2017, In: Journal of Perinatology. 37, 1, p. 98-103 6 p.Research output: Contribution to journal › Article › peer-review
Open Access13 Scopus citations -
Unusual high-grade features in pediatric diffuse leptomeningeal glioneuronal tumor: comparison with a typical low-grade example
Schwetye, K. E., Kansagra, A. P., McEachern, J., Schmidt, R. E., Gauvain, K. & Dahiya, S., Dec 2017, In: Human Pathology. 70, p. 105-112 8 p.Research output: Contribution to journal › Article › peer-review
34 Scopus citations -
Ventricular zone disruption in human neonates with intraventricular hemorrhage
McAllister, J. P., Guerra, M. M., Ruiz, L. C., Jimenez, A. J., Dominguez-Pinos, D., Sival, D., den Dunnen, W., Morales, D. M., Schmidt, R. E., Rodriguez, E. M. & Limbrick, D. D., May 1 2017, In: Journal of neuropathology and experimental neurology. 76, 5, p. 358-375 18 p.Research output: Contribution to journal › Article › peer-review
Open Access80 Scopus citations -
2016
A complement-microglial axis drives synapse loss during virus-induced memory impairment
Vasek, M. J., Garber, C., Dorsey, D., Durrant, D. M., Bollman, B., Soung, A., Yu, J., Perez-Torres, C., Frouin, A., Wilton, D. K., Funk, K., DeMasters, B. K., Jiang, X., Bowen, J. R., Mennerick, S., Robinson, J. K., Garbow, J. R., Tyler, K. L., Suthar, M. S. & Schmidt, R. E. & 2 others, , Jun 22 2016, In: Nature. 534, 7608, p. 538-543 6 p.Research output: Contribution to journal › Article › peer-review
Open Access498 Scopus citations -
Clec16a is Critical for Autolysosome Function and Purkinje Cell Survival
Redmann, V., Lamb, C. A., Hwang, S., Orchard, R. C., Kim, S., Razi, M., Milam, A., Park, S., Yokoyama, C. C., Kambal, A., Kreamalmeyer, D., Bosch, M. K., Xiao, M., Green, K., Kim, J., Pruett-Miller, S. M., Ornitz, D. M., Allen, P. M., Beatty, W. L. & Schmidt, R. E. & 3 others, , Mar 18 2016, In: Scientific reports. 6, 23326.Research output: Contribution to journal › Article › peer-review
Open Access28 Scopus citations -
Gliosarcomas lack BRAFV600E mutation, but a subset exhibit β-catenin nuclear localization
Schwetye, K. E., Joseph, N. M., Al-Kateb, H., Rich, K. M., Schmidt, R. E., Perry, A., Gutmann, D. H. & Dahiya, S., Oct 1 2016, In: Neuropathology. 36, 5, p. 448-455 8 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Group II mGluRs suppress hyperexcitability in mouse and human nociceptors
Davidson, S., Golden, J. P., Copits, B. A., Ray, P. R., Vogt, S. K., Valtcheva, M. V., Schmidt, R. E., Ghetti, A., Price, T. J. & Gereau, R. W., Sep 1 2016, In: Pain. 157, 9, p. 2081-2088 8 p.Research output: Contribution to journal › Article › peer-review
Open Access42 Scopus citations -
Immunogenomics of hypermutated glioblastoma: A patient with germline POLE deficiency treated with checkpoint blockade immunotherapy
Johanns, T. M., Miller, C. A., Dorward, I. G., Tsien, C., Chang, E., Perry, A., Uppaluri, R., Ferguson, C., Schmidt, R. E., Dahiya, S., Ansstas, G., Mardis, E. R. & Dunn, G. P., Nov 2016, In: Cancer discovery. 6, 11, p. 1230-1236 7 p.Research output: Contribution to journal › Article › peer-review
Open Access249 Scopus citations