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Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Mendell JR, et al. Among authors: rankin c. Ann Neurol. 2012 Mar;71(3):304-13. doi: 10.1002/ana.23528. Ann Neurol. 2012. PMID: 22451200
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.
Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB; United Dystrophinopathy Project. Flanigan KM, et al. Ann Neurol. 2013 Apr;73(4):481-8. doi: 10.1002/ana.23819. Epub 2013 Feb 20. Ann Neurol. 2013. PMID: 23440719 Free PMC article.
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426. Hum Mutat. 2011. PMID: 21972111 Free PMC article.
Clonal haematopoiesis across the age spectrum of vasculitis patients with Takayasu's arteritis, ANCA-associated vasculitis and giant cell arteritis.
Gutierrez-Rodrigues F, Wells KV, Jones AI, Hironaka D, Rankin C, Gadina M, Sikora KA, Alemu L, Calado RT, Quinn KA, Patel B, Young NS, Grayson PC. Gutierrez-Rodrigues F, et al. Among authors: rankin c. Ann Rheum Dis. 2024 Mar 12;83(4):508-517. doi: 10.1136/ard-2023-224933. Ann Rheum Dis. 2024. PMID: 38049983
Distinct Patterns of Gene Expression Changes in the Colon and Striatum of Young Mice Overexpressing Alpha-Synuclein Support Parkinson's Disease as a Multi-System Process.
Videlock EJ, Hatami A, Zhu C, Kawaguchi R, Chen H, Khan T, Yehya AHS, Stiles L, Joshi S, Hoffman JM, Law KM, Rankin CR, Chang L, Maidment NT, John V, Geschwind DH, Pothoulakis C. Videlock EJ, et al. Among authors: rankin cr. J Parkinsons Dis. 2023;13(7):1127-1147. doi: 10.3233/JPD-223568. J Parkinsons Dis. 2023. PMID: 37638450 Free PMC article.
251 results