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Page 1
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. 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.
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. 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.
266th ENMC International Workshop: Remote delivery of clinical care and validation of remote clinical outcome assessments in neuromuscular disorders: A response to COVID-19 and proactive planning for the future. Hoofddorp, The Netherlands, 1-3 April 2022.
Alfano LN, James MK, Ramdharry GM, Lowes LP; 266th ENMC Workshop Study Group. Alfano LN, et al. Neuromuscul Disord. 2023 Apr;33(4):339-348. doi: 10.1016/j.nmd.2023.02.011. Epub 2023 Mar 4. Neuromuscul Disord. 2023. PMID: 36965197 No abstract available.
Findings from the Longitudinal CINRG Becker Natural History Study.
Clemens PR, Gordish-Dressman H, Niizawa G, Gorni K, Guglieri M, Connolly AM, Wicklund M, Bertorini T, Mah J, Thangarajh M, Smith EC, Kuntz NL, McDonald CM, Henricson E, Upadhyayula S, Byrne B, Manousakis G, Harper A, Iannaccone S, Dang UJ. Clemens PR, et al. Among authors: gordish dressman h. J Neuromuscul Dis. 2024;11(1):201-212. doi: 10.3233/JND-230178. J Neuromuscul Dis. 2024. PMID: 37980682 Free PMC article.
Major Adverse Dystrophinopathy Events (MADE) Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy.
Kaufman BD, Garcia A, He Z, Tesi-Rocha C, Buu M, Rosenthal D, Gordish-Dressman H, Almond CS, Duong T; CINRG DUCHENNE NATURAL HISTORY STUDY Investigators. Kaufman BD, et al. Among authors: gordish dressman h. Prog Pediatr Cardiol. 2023 Jun;69:101639. doi: 10.1016/j.ppedcard.2023.101639. Epub 2023 Mar 15. Prog Pediatr Cardiol. 2023. PMID: 37990740
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: gordish dressman h. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.
Harafuji N, Yang C, Wu M, Thiruvengadam G, Gordish-Dressman H, Thompson RG, Bell PD, Rosenberg AZ, Dafinger C, Liebau MC, Bebok Z, Caldovic L, Guay-Woodford LM. Harafuji N, et al. Among authors: gordish dressman h. Front Cell Dev Biol. 2023 Nov 17;11:1270980. doi: 10.3389/fcell.2023.1270980. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 38125876 Free PMC article.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. Lawlor MW, et al. Among authors: gordish dressman h. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016/j.ebiom.2023.104894. Epub 2023 Dec 12. EBioMedicine. 2024. PMID: 38086156 Free PMC article.
183 results