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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Shieh PB, et al. Among authors: saade dn. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. Lancet Neurol. 2023. PMID: 37977713 Free article. Clinical Trial.
PIEZO2 mediates injury-induced tactile pain in mice and humans.
Szczot M, Liljencrantz J, Ghitani N, Barik A, Lam R, Thompson JH, Bharucha-Goebel D, Saade D, Necaise A, Donkervoort S, Foley AR, Gordon T, Case L, Bushnell MC, Bönnemann CG, Chesler AT. Szczot M, et al. Sci Transl Med. 2018 Oct 10;10(462):eaat9892. doi: 10.1126/scitranslmed.aat9892. Sci Transl Med. 2018. PMID: 30305456 Free PMC article. Clinical Trial.
Dominant collagen XII mutations cause a distal myopathy.
Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG. Mohassel P, et al. Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988. doi: 10.1002/acn3.50882. Epub 2019 Sep 11. Ann Clin Transl Neurol. 2019. PMID: 31509352 Free PMC article.
Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans.
Case LK, Liljencrantz J, Madian N, Necaise A, Tubbs J, McCall M, Bradson ML, Szczot M, Pitcher MH, Ghitani N, Frangos E, Cole J, Bharucha-Goebel D, Saade D, Ogata T, Donkervoort S, Foley AR, Bönnemann CG, Olausson H, Bushnell MC, Chesler AT. Case LK, et al. Nat Commun. 2021 Jan 28;12(1):657. doi: 10.1038/s41467-021-20939-5. Nat Commun. 2021. PMID: 33510158 Free PMC article.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824 Free PMC article.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG. Bharucha-Goebel DX, et al. Brain. 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. Brain. 2021. PMID: 34114613 Free PMC article.
29 results