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1993 1
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2010 6
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146 results

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Page 1
Spinal muscular atrophy.
Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS. Mercuri E, et al. Among authors: sumner cj. Nat Rev Dis Primers. 2022 Aug 4;8(1):52. doi: 10.1038/s41572-022-00380-8. Nat Rev Dis Primers. 2022. PMID: 35927425 Review.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Bharucha-Goebel DX, Todd JJ, Saade D, Norato G, Jain M, Lehky T, Bailey RM, Chichester JA, Calcedo R, Armao D, Foley AR, Mohassel P, Tesfaye E, Carlin BP, Seremula B, Waite M, Zein WM, Huryn LA, Crawford TO, Sumner CJ, Hoke A, Heiss JD, Charnas L, Hooper JE, Bouldin TW, Kang EM, Rybin D, Gray SJ, Bönnemann CG; GAN Trial Team. Bharucha-Goebel DX, et al. Among authors: sumner cj. N Engl J Med. 2024 Mar 21;390(12):1092-1104. doi: 10.1056/NEJMoa2307952. N Engl J Med. 2024. PMID: 38507752 Free PMC article.
Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity.
Goretzki B, Wiedemann C, McCray BA, Schäfer SL, Jansen J, Tebbe F, Mitrovic SA, Nöth J, Cabezudo AC, Donohue JK, Jeffries CM, Steinchen W, Stengel F, Sumner CJ, Hummer G, Hellmich UA. Goretzki B, et al. Among authors: sumner cj. Nat Commun. 2023 Jul 13;14(1):4165. doi: 10.1038/s41467-023-39808-4. Nat Commun. 2023. PMID: 37443299 Free PMC article.
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
Sullivan JM, Bagnell AM, Alevy J, Avila EM, Mihaljević L, Saavedra-Rivera PC, Kong L, Huh JS, McCray BA, Aisenberg WH, Zuberi AR, Bogdanik L, Lutz CM, Qiu Z, Quinlan KA, Searson PC, Sumner CJ. Sullivan JM, et al. Among authors: sumner cj. Sci Transl Med. 2024 May 22;16(748):eadk1358. doi: 10.1126/scitranslmed.adk1358. Epub 2024 May 22. Sci Transl Med. 2024. PMID: 38776392 Free PMC article.
Peripheral Neuropathy: No Longer the Land of Therapeutic Nihilism.
Polydefkis M, Sumner CJ. Polydefkis M, et al. Among authors: sumner cj. Neurotherapeutics. 2021 Oct;18(4):2153-2155. doi: 10.1007/s13311-021-01177-5. Epub 2022 Jan 6. Neurotherapeutics. 2021. PMID: 34993888 Free PMC article. No abstract available.
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA.
Kong L, Valdivia DO, Simon CM, Hassinan CW, Delestrée N, Ramos DM, Park JH, Pilato CM, Xu X, Crowder M, Grzyb CC, King ZA, Petrillo M, Swoboda KJ, Davis C, Lutz CM, Stephan AH, Zhao X, Weetall M, Naryshkin NA, Crawford TO, Mentis GZ, Sumner CJ. Kong L, et al. Among authors: sumner cj. Sci Transl Med. 2021 Jan 27;13(578):eabb6871. doi: 10.1126/scitranslmed.abb6871. Sci Transl Med. 2021. PMID: 33504650 Free PMC article.
WHAT MAKES HUMAN HEARING SPECIAL?
Sumner CJ, Bergevin C, Oxenham AJ, Shera CA. Sumner CJ, et al. Front Young Minds. 2022;10:708921. doi: 10.3389/frym.2022.708921. Epub 2022 May 31. Front Young Minds. 2022. PMID: 37465203 Free PMC article.
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.
Glascock J, Darras BT, Crawford TO, Sumner CJ, Kolb SJ, DiDonato C, Elsheikh B, Howell K, Farwell W, Valente M, Petrillo M, Tingey J, Jarecki J. Glascock J, et al. Among authors: sumner cj. J Neuromuscul Dis. 2023;10(5):937-954. doi: 10.3233/JND-230054. J Neuromuscul Dis. 2023. PMID: 37458045 Free PMC article.
146 results