Selected Publications

Lin KY, Bucha A, McSweeney K, Karaj A, Tamaroff J, Wade K, O’Malley S, Chung N, Cilenti, NA, Mesaros C, Blair I, Serai S, Farmer J, Bryant K, Weber DR, Lu Y, O. Harhay M, Paridon SM, Seifert E, Putt M, Zamani, M, Baur, JA, Lynch DR, McCormack SE: Safety and efficacy of individualized exercise and NAD+ precursor supplementation in Friedreich’s ataxia in the USA: a randomized controlled trial. Lancet Neurol 25(5): 469-481, May 2026.

Nasomyont N, Appel A, Apkon S, Hoskin J, Surampudi PN, Truba N, Vargas G, Veerapandiyan A, Wood CL, Moeschen P, Werth C, Ahmet A, Bansal S, Bratland L, Crane JL, Fiscaletti M, Halloun R, Kinnett K, Lam C, McAdam L, McMillan HJ, Rutter M, Sbrocchi AM, Scavina M, Tamaroff J, Tian C, Ward LM, Weber DR, Wong SC, Renthal NE, on behalf of the OPTIMIZE DMD Consortium: Navigating Sexual Health and Fertility in Individuals with Duchenne Muscular Dystrophy: Current Standards of Care and Future Directions. J. Neuromuscul. Dis May 2026 Notes: In Press.

Wood CL, Babalola F, Benjamin RW, Lam C, McAdam L, Nicolau S, Sbrocchi AM, Scavina M, Sorbara JC, Ahmet A, Apkon S, Bharill S, Fiscaletti M, Kinnett K, McMillan HJ, Merchant N, Nasomyont N, Molina FHO, Renthal NE, Smith P, Surampudi PN, Tamaroff JG, Tian C, Ward LM, Weber DR, Wong SC, Crane JL, Rutter MM, on behalf of the OPTIMIZE DMD Consortium: Optimizing Care for Growth and Puberty in Duchenne Muscular Dystrophy: A Survey of Clinical Practice in the OPTIMIZE DMD Consortium. Muscle Nerve May 2026 Notes: online ahead of print.

Weber DR, Moretti A, Dittrich ATM, Panicucci C, Liguori S, de Groot I, Kroneman M, Schlüterh S, Claeys KG, Crabtree NJ, Erasmus CE, del Fattore A, Guglieri M, Iolascon G, Kostera-Pruszczyk A, de Visser M, Wong SC, Wood CL, Voermans, NC, Ward LM: Key Principles and Disease-Specific Considerations to Guide Management of Bone Health and Osteoporosis among Individuals with Neuromuscular Disorders: The Path Forward. Muscle Nerve 73(5): 712-730, May 2026.

Tornese G, Wong SC, Sbrocchi AM, De Angelis F, Zito I, Boccia F, Weber DR, Aversa T: Survey of Adrenal Insufficiency Management for Duchenne muscular dystrophy in Italy. Endocrine 91(1): 125, April 2026.

Labib B, Weber DR, Lessig M, Mayer O, Anari JB, Calabria A: A Case of Severe Vitamin D Resistant Rickets: Challenges, Complications and a Novel Therapy. Pediatric Endocrine Society, San Francisco CA, USA, Poster Presentation April 2026.

Garcia CE, Ahmed UA, Pagan L, Appel A, Nasomyont N, Fiscaletti M, Weber DR, Crane J, Apkon S, Rutter M, Wood C, Ward L, Renthal NE: Caring for Gender Diverse Youth With Duchenne Muscular Dystrophy: A Multisite Case Series. Pediatr Neurol 179: 87-90, March 2026.

Rabenau-McDonnell Q, Vaz D, Wehrman A, Weber D, Loomes K, Kamath BM. : Examining Fracture Trends in Patients with Alagille Syndrome: Results from The GALA Study Group. American Association for the Study of Liver Disease: Liver Meeting. Washington, DC. Oral abstract presentation November 2025.

Sbrocchi AM, Kinnett K, Lautatzis ME, McMillan HJ, Selby KA, Veerapandiyan A, Weber DR, Apkon S, Bharucha-Goebel DX, Bharill S, Bansal S, Clemens PR, Fiscaletti M, Halloun R, Lam C Merchant N, McAdam L, Nasomyont N, Nicolau S, Molina MFO, Phung K, Rutter MM, Scavina M, Surampudi PN, Tamaroff J, Tian C, Ward LM, Wood CL, Wong SC, Ahmet A. : Adrenal Suppression in Duchenne Muscular Dystrophy: Management Strategies Incorporating Novel Steroid Vamorolone. J Endocr. Soc 10(2), Nov 2025.

Heatwole C, Luebbe E, Hamel J, Mongiovi P, Ciafaloni E, Dilek N, Martens W, Weber D, Rashid H, Allen J, Smith C, Howell S, Rosero S, Eichinger K, Baker L, Dekdebrun J, Hilbert J, Varma A, Thornton, McDermott MP, Moxley R: Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy. Neurol. Genet 11(5): e200292, Aug 2025.