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1993 1
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2008 7
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2010 6
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157 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.
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.
Intra-amniotic antisense oligonucleotide treatment improves phenotypes in preclinical models of spinal muscular atrophy.
Borges B, Brown SM, Chen WJ, Clarke MT, Herzeg A, Park JH, Ross J, Kong L, Denton M, Smith AK, Lum T, Zada FM, Cordero M, Gupta N, Cook SE, Murray H, Matson J, Klein S, Bennett CF, Krainer AR, MacKenzie TC, Sumner CJ. Borges B, et al. Among authors: sumner cj. Sci Transl Med. 2025 May 14;17(798):eadv4656. doi: 10.1126/scitranslmed.adv4656. Epub 2025 May 14. Sci Transl Med. 2025. PMID: 40367190 Free PMC article.
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.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.
Sadjadi R, Picher-Martel V, Morrow JM, Thedens D, DiCamillo PA, McCray BA, Pareyson D, Herrmann DN, Reilly MM, Li J, Castro D, Shy ME; Inherited Neuropathy Consortium. Sadjadi R, et al. Neurology. 2024 Sep 10;103(5):e209763. doi: 10.1212/WNL.0000000000209763. Epub 2024 Aug 12. Neurology. 2024. PMID: 39133880 Free PMC article.
157 results