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A Young Man With Progressive Vision and Hearing Loss.
Kung NH, Bucelli RC, Van Stavern RB, Goebel JA, Van Stavern GP. Kung NH, et al. Among authors: bucelli rc. JAMA Neurol. 2016 Jul 1;73(7):880-3. doi: 10.1001/jamaneurol.2016.1336. JAMA Neurol. 2016. PMID: 27213952
A Young Woman With Blurred Vision and Distal Paresthesias.
Kung NH, Bartlett NL, Yaseen NR, Van Stavern GP, Bucelli RC. Kung NH, et al. Among authors: bucelli rc. JAMA Neurol. 2015 Dec;72(12):1519-23. doi: 10.1001/jamaneurol.2015.2390. JAMA Neurol. 2015. PMID: 26501203
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, Brown CM, Kries K, Onwumere C, Gu H, Hoekel J, Tychsen L, Van Stavern GP, White NH, Marshall BA, Hershey T, Urano F. Abreu D, et al. Among authors: bucelli rc. JCI Insight. 2021 Aug 9;6(15):e145188. doi: 10.1172/jci.insight.145188. JCI Insight. 2021. PMID: 34185708 Free PMC article. Clinical Trial.
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.
Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evilä A, Hackman P, Udd B, Harms MB, Weihl CC. Bucelli RC, et al. Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24. Neurology. 2015. PMID: 26208961 Free PMC article.
76 results