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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2002 3
2003 6
2004 2
2005 4
2006 4
2007 3
2008 7
2009 10
2010 6
2011 8
2012 8
2013 6
2014 7
2015 7
2016 9
2017 5
2018 4
2019 10
2020 10
2021 9
2022 11
2023 7
2024 10
2025 1

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145 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
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 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.
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.
Autosomal Dominant TRPV4 Disorders.
McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ. McCray BA, et al. Among authors: sumner cj. 2014 May 15 [updated 2020 Sep 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 May 15 [updated 2020 Sep 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24830047 Free Books & Documents. Review.
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.
145 results