{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T04:33:07Z","timestamp":1788323587797,"version":"build-2803163510"},"reference-count":88,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein. Even though SMN is ubiquitously expressed, the disease selectively affects motor neurons, leading to progressive muscle weakness. Even among motor neurons, certain motor units appear more clinically resistant to SMA. To quantitatively survey selective resistance, we studied extensive neuromuscular autopsies of Type I SMA patients and age-matched controls. We found highly divergent degrees of degeneration of neighboring motor units, even within individual cranial nerves or a single anatomical area such as the neck. Examination of a Type I SMA patient maintained on life support for 17\u00a0years found that most muscles were atrophied, but the diaphragm was strikingly preserved. Nevertheless, some resistant human muscles with preserved morphology displayed nearly complete conversion to slow Type I myofibers. Remarkably, a similar pattern of selective resistance was observed in the SMN\u03947 mouse model. Overall, differential motor unit vulnerability in human Type I SMA suggests the existence of potent, motor unit-specific disease modifiers. Mechanisms that confer selective resistance to SMA may represent therapeutic targets independent of the SMN protein, particularly in patients with neuromuscular weakness refractory to current treatments.<\/jats:p>","DOI":"10.1093\/hmg\/ddae190","type":"journal-article","created":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T06:56:46Z","timestamp":1734505006000},"page":"347-367","source":"Crossref","is-referenced-by-count":16,"title":["Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3200-1020","authenticated-orcid":false,"given":"Justin C","family":"Lee","sequence":"first","affiliation":[{"name":"Center for Motor Neuron Biology and Disease, Columbia University Medical Center , 630 W. 168th St., New York, NY 10032 ,","place":["United States"]},{"name":"Department of Neurosurgery, Baylor College of Medicine , 7200 Cambridge St. Ste. 9B, Houston, TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children\u2019s Hospital, Harvard Medical School , 300 Longwood Ave., Boston, MA 02115 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Pisapia","sequence":"additional","affiliation":[{"name":"Department of Pathology, Weill Cornell Medical Center , 520 E. 70th St., New York, NY 10021 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher E","family":"Henderson","sequence":"additional","affiliation":[{"name":"Center for Motor Neuron Biology and Disease, Columbia University Medical Center , 630 W. 168th St., New York, NY 10032 ,","place":["United States"]},{"name":"Alltrna, Inc. , 325 Vassar St. Ste. 2A, Cambridge, MA 02142 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,12,18]]},"reference":[{"key":"2025021107011578400_ref1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/BF00308809","article-title":"Neuropathological stageing of Alzheimer-related changes","volume":"82","author":"Braak","year":"1991","journal-title":"Acta Neuropathol"},{"key":"2025021107011578400_ref2","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1093\/brain\/122.8.1437","article-title":"The substantia nigra of the human brain. 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