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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B. Lee Y, et al. Among authors: bucelli rc. J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19. J Clin Invest. 2018. PMID: 29457785 Free PMC article.
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.
Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres.
Neuwirth C, Braun N, Claeys KG, Bucelli R, Fournier C, Bromberg M, Petri S, Goedee S, Lenglet T, Leppanen R, Canosa A, Goodman I, Al-Lozi M, Ohkubo T, Hübers A, Atassi N, Abrahao A, Funke A, Appelfeller M, Tümmler A, Finegan E, Glass JD, Babu S, Ladha SS, Kwast-Rabben O, Juntas-Morales R, Coffey A, Chaudhry V, Vu T, Saephanh C, Newhard C, Zakrzewski M, Rosier E, Hamel N, Raheja D, Raaijman J, Ferguson T, Weber M. Neuwirth C, et al. Clin Neurophysiol. 2018 Aug;129(8):1756-1762. doi: 10.1016/j.clinph.2018.04.614. Epub 2018 May 3. Clin Neurophysiol. 2018. PMID: 29803404 Clinical Trial.
Incidence of amyotrophic lateral sclerosis in older adults.
Camacho-Soto A, Searles Nielsen S, Faust IM, Bucelli RC, Miller TM, Racette BA. Camacho-Soto A, et al. Among authors: bucelli rc. Muscle Nerve. 2022 Sep;66(3):289-296. doi: 10.1002/mus.27652. Epub 2022 Jun 24. Muscle Nerve. 2022. PMID: 35678083
An Elderly Man with Dementia.
Brier MR, Bucelli RC, Day GS. Brier MR, et al. Among authors: bucelli rc. Clin Chem. 2020 Mar 1;66(3):415-420. doi: 10.1093/clinchem/hvz002. Clin Chem. 2020. PMID: 32109302 No abstract available.
Commentary.
Wilks A, Bucelli RC. Wilks A, et al. Among authors: bucelli rc. Clin Chem. 2017 Jun;63(6):1073. doi: 10.1373/clinchem.2017.272252. Clin Chem. 2017. PMID: 28550126 No abstract available.
76 results