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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium; Lin YY, Muntoni F. Carss KJ, et al. Among authors: hoffman e. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768512 Free PMC article.
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. O'Grady GL, et al. Among authors: hoffman e. Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25. Ann Neurol. 2016. PMID: 27159402
Island demographics and trait associations in white-tailed deer.
Cars BS, Kessler C, Hoffman EA, Côté SD, Koelsch D, Shafer ABA. Cars BS, et al. Among authors: hoffman ea. Heredity (Edinb). 2024 May 27. doi: 10.1038/s41437-024-00685-2. Online ahead of print. Heredity (Edinb). 2024. PMID: 38802598
Indices of Childhood Socioeconomic Status and Dysanapsis among Older Adults: The Multi-Ethnic Study of Atherosclerosis Lung Study.
Lovinsky-Desir S, Hirsh JA, Hoffman EA, Allen NB, Bertoni AG, Guo J, Jacobs DR Jr, Laine AF, Malinsky D, Michos ED, Sack C, Shen W, Watson KE, Wysoczanski A, Barr RG, Smith BM. Lovinsky-Desir S, et al. Among authors: hoffman ea. Ann Am Thorac Soc. 2024 May 15. doi: 10.1513/AnnalsATS.202401-006RL. Online ahead of print. Ann Am Thorac Soc. 2024. PMID: 38747708 No abstract available.
2,122 results