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2021 1
2022 11
2023 7
2024 1

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18 results

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Page 1
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. N Engl J Med. 2024 Mar 21;390(12):1092-1104. doi: 10.1056/NEJMoa2307952. N Engl J Med. 2024. PMID: 38507752
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. J Neuromuscul Dis. 2023;10(5):937-954. doi: 10.3233/JND-230054. J Neuromuscul Dis. 2023. PMID: 37458045 Free PMC article.
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.
Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation.
Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortés MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM, Sumner CJ. Kong L, et al. Acta Neuropathol Commun. 2023 Mar 30;11(1):53. doi: 10.1186/s40478-023-01551-8. Acta Neuropathol Commun. 2023. PMID: 36997967 Free PMC article.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network. Fridman V, et al. Ann Neurol. 2023 Mar;93(3):563-576. doi: 10.1002/ana.26518. Epub 2022 Oct 28. Ann Neurol. 2023. PMID: 36203352 Free PMC article.
Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting).
Herzeg A, Almeida-Porada G, Charo RA, David AL, Gonzalez-Velez J, Gupta N, Lapteva L, Lianoglou B, Peranteau W, Porada C, Sanders SJ, Sparks TN, Stitelman DH, Struble E, Sumner CJ, MacKenzie TC. Herzeg A, et al. J Clin Pharmacol. 2022 Sep;62 Suppl 1(Suppl 1):S36-S52. doi: 10.1002/jcph.2127. J Clin Pharmacol. 2022. PMID: 36106778 Free PMC article. Review.
18 results