Research output per year
Research output per year
- 13 results
Search results
-
2021
Acute flaccid myelitis: cause, diagnosis, and management
AFM working group, Jan 23 2021, In: The Lancet. 397, 10271, p. 334-346 13 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial
Finkel, R. S., McDonald, C. M., Lee Sweeney, H., Finanger, E., Neil Knierbein, E., Wagner, K. R., Mathews, K. D., Marks, W., Statland, J., Nance, J., McMillan, H. J., McCullagh, G., Tian, C., Ryan, M. M., O'Rourke, D., Müller-Felber, W., Tulinius, M., Burnette, W. B., Nguyen, C. T., Vijayakumar, K., & 6 others, 2021, In: Journal of neuromuscular diseases. 8, 5, p. 769-784 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Artifact reduction by using alternating polarity stimulus pairs in intraoperative peripheral nerve action potential recording
Wu, G., Belzberg, A., Nance, J., Gutierrez-Hernandez, S., Ritzl, E. K. & Ringkamp, M., Dec 2021, In: Journal of Clinical Monitoring and Computing. 35, 6, p. 1467-1475 9 p.Research output: Contribution to journal › Article › peer-review
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2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
Nguyen, T. T. M., Murakami, Y., Mobilio, S., Niceta, M., Zampino, G., Philippe, C., Moutton, S., Zaki, M. S., James, K. N., Musaev, D., Mu, W., Baranano, K., Nance, J. R., Rosenfeld, J. A., Braverman, N., Ciolfi, A., Millan, F., Person, R. E., Bruel, A. L., Thauvin-Robinet, C., & 18 others, Apr 2 2020, In: American journal of human genetics. 106, 4, p. 484-495 12 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Undiagnosed Diseases Network, Aug 6 2020, In: American journal of human genetics. 107, 2, p. 352-363 12 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Solutions to the technical challenges embedded in the current methods for intraoperative peripheral nerve action potential recordings
Wu, G., Belzberg, A., Nance, J., Gutierrez-Hernandez, S., Ritzl, E. K. & Ringkamp, M., Sep 2020, In: Journal of neurosurgery. 133, 3, p. 884-893 10 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
2019
Clinical Subpopulations in a Sample of North American Children Diagnosed with Acute Flaccid Myelitis, 2012-2016
Elrick, M. J., Gordon-Lipkin, E., Crawford, T. O., Van Haren, K., Messacar, K., Thornton, N., Dee, E., Voskertchian, A., Nance, J. R., Muñoz, L. S., Gorman, M. P., Benson, L. A., Thomas, D. L., Pardo, C. A., Milstone, A. M. & Duggal, P., Feb 2019, In: JAMA pediatrics. 173, 2, p. 134-139 6 p.Research output: Contribution to journal › Review article › peer-review
Open Access28 Scopus citations -
2018
Muscular dystrophies
Nance, J., Jan 1 2018, The 5-Minute Pediatric Consult, 8th Edition. Wolters Kluwer Health, p. 614-615 2 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
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Spinal muscular atrophy
Nance, J., Jan 1 2018, The 5-Minute Pediatric Consult, 8th Edition. Wolters Kluwer Health, p. 868-869 2 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
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2017
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods
Donkervoort, S., Chan, S. H. S., Hayes, L. H., Bradley, N., Nguyen, D., Leach, M. E., Mohassel, P., Hu, Y., Thangarajh, M., Bharucha-Goebel, D., Kan, A., Ho, R. S. L., Reyes, C. A., Nance, J., Moore, S. A., Foley, A. R. & Bönnemann, C. G., Jun 2017, In: Neuromuscular Disorders. 27, 6, p. 531-536 6 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
2015
Diagnostic evaluation of rhabdomyolysis
Nance, J. R. & Mammen, A. L., Jun 1 2015, In: Muscle and Nerve. 51, 6, p. 793-810 18 p.Research output: Contribution to journal › Review article › peer-review
77 Scopus citations -
2012
Congenital myopathies: An update
Nance, J. R., Dowling, J. J., Gibbs, E. M. & Bönnemann, C. G., Apr 2012, In: Current neurology and neuroscience reports. 12, 2, p. 165-174 10 p.Research output: Contribution to journal › Article › peer-review
Open Access87 Scopus citations -
2007
Ischemic Spinal Cord Infarction in Children Without Vertebral Fracture
Nance, J. R. & Golomb, M. R., Apr 2007, In: Pediatric Neurology. 36, 4, p. 209-216 8 p.Research output: Contribution to journal › Review article › peer-review
40 Scopus citations