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28 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 Free PMC article.
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.
Foley AR, Yun P, Leach ME, Neuhaus SB, Averion GV, Hu Y, Hayes LH, Donkervoort S, Jain MS, Waite M, Parks R, Bharucha-Goebel DX, Mayer OH, Zou Y, Fink M, DeCoster J, Mendoza C, Arévalo C, Hausmann R, Petraki D, Cheung K, Bönnemann CG. Foley AR, et al. Among authors: bharucha goebel dx. Neurol Genet. 2024 May 29;10(3):e200148. doi: 10.1212/NXG.0000000000200148. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38915423 Free PMC article.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. Schartner V, et al. Among authors: bharucha goebel dx. Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23. Acta Neuropathol. 2017. PMID: 28012042
Comparison of strength testing modalities in dysferlinopathy.
Reash NF, James MK, Alfano LN, Mayhew AG, Jacobs M, Iammarino MA, Holsten S, Sakamoto C, Tateishi T, Yajima H, Duong T, de Wolf B, Gee R, Bharucha-Goebel DX, Bravver E, Mori-Yoshimura M, Bushby K, Rufibach LE, Straub V, Lowes LP; Jain COS Consortium. Reash NF, et al. Among authors: bharucha goebel dx. Muscle Nerve. 2022 Aug;66(2):159-166. doi: 10.1002/mus.27570. Epub 2022 May 20. Muscle Nerve. 2022. PMID: 35506767
Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy.
Wolff JM, Capocci N, Atas E, Bharucha-Goebel DX, Brandsema JF, Butterfield RJ, Chadwick CB, Corti M, Crawford TO, Cripe L, Day JW, Duong T, ElMallah MK, Flanigan KM, George LA, Goedeker NL, Goude E, Hesterlee S, Lin B, Katz NK, Matesanz SE, McDonald C, McNally EM, Mercado-Rodriguez C, Nandi D, Parsons JA, Proud C, Ramos-Platt L, Lek A, Salabarria SM, Camino E, Schrader R, Shea E, Shell R, Shieh PB, Soslow JH, Taylor JB, Veerapandiyan A, Villa C, Yang ML, Zaidman CM, Leon-Astudillo C, Byrne BJ. Wolff JM, et al. Among authors: bharucha goebel dx. Neuromuscul Disord. 2025 Sep;54:106208. doi: 10.1016/j.nmd.2025.106208. Epub 2025 Aug 23. Neuromuscul Disord. 2025. PMID: 41005046 Review.
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V; Jain COS Consortium. Moore U, et al. Among authors: bharucha goebel dx. Neuromuscul Disord. 2023 Feb;33(2):199-207. doi: 10.1016/j.nmd.2023.01.001. Epub 2023 Jan 6. Neuromuscul Disord. 2023. PMID: 36689846 Free article.
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.
Llansó L, Moore U, Bolano-Diaz C, James M, Blamire AM, Carlier PG, Rufibach L, Gordish-Dressman H, Boyle G, Hilsden H, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell JR, Straub V, Díaz-Manera J. Llansó L, et al. Among authors: bharucha goebel dx. Neuromuscul Disord. 2023 Apr;33(4):349-357. doi: 10.1016/j.nmd.2023.02.007. Epub 2023 Mar 2. Neuromuscul Disord. 2023. PMID: 36972667 Free article. Review.
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.
White Z, Rufibach L, Dressman HG, Hilsden H, Cox D, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR; Jain COS Consortium; Straub V, Bernatchez P. White Z, et al. Among authors: bharucha goebel dx. J Cachexia Sarcopenia Muscle. 2025 Aug;16(4):e70042. doi: 10.1002/jcsm.70042. J Cachexia Sarcopenia Muscle. 2025. PMID: 40814795 Free PMC article.
Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease.
Gholap RS, Bharucha-Goebel DX, Shats DA, Panchal BK, Chong J, Levin MR, Alexander JL. Gholap RS, et al. Among authors: bharucha goebel dx. J Pediatr Ophthalmol Strabismus. 2023 Jul-Aug;60(4):e35-e37. doi: 10.3928/01913913-20230518-01. Epub 2023 Jul 1. J Pediatr Ophthalmol Strabismus. 2023. PMID: 37478202
28 results