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A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing.
Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J. Nicolau S, et al. Can J Neurol Sci. 2021 Mar;48(2):293-296. doi: 10.1017/cjn.2020.141. Epub 2020 Jul 10. Can J Neurol Sci. 2021. PMID: 32646536 No abstract available.
GYG1: A distal myopathy with polyglucosan bodies.
Nicolau S, Tracy JA, Pisapia DJ, Tanji K, Milone M. Nicolau S, et al. JIMD Rep. 2020 May 13;55(1):88-90. doi: 10.1002/jmd2.12129. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905144 Free PMC article.
253 results