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Skeletal muscle disorders of glycogenolysis and glycolysis.
Godfrey R, Quinlivan R. Godfrey R, et al. Among authors: quinlivan r. Nat Rev Neurol. 2016 Jul;12(7):393-402. doi: 10.1038/nrneurol.2016.75. Epub 2016 May 27. Nat Rev Neurol. 2016. PMID: 27231184 Review.
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.
Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R. Scalco RS, et al. Among authors: quinlivan r. Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11. Neuromuscul Disord. 2016. PMID: 27312022 Free article.
McArdle Disease Misdiagnosed as Meningitis.
Scalco RS, Chatfield S, Junejo MH, Booth S, Pattni J, Godfrey R, Quinlivan R. Scalco RS, et al. Among authors: quinlivan r. Am J Case Rep. 2016 Nov 30;17:905-908. doi: 10.12659/ajcr.900967. Am J Case Rep. 2016. PMID: 27899787 Free PMC article.
The need for biochemical testing in beta-enolase deficiency in the genomic era.
Wigley R, Scalco RS, Gardiner AR, Godfrey R, Booth S, Kirk R, Hilton-Jones D, Houlden H, Heales S, Quinlivan R. Wigley R, et al. Among authors: quinlivan r. JIMD Rep. 2019 Sep 3;50(1):40-43. doi: 10.1002/jmd2.12070. eCollection 2019 Nov. JIMD Rep. 2019. PMID: 31741825 Free PMC article.
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII).
Buch AE, Musumeci O, Wigley R, Stemmerik MPG, Eisum AV, Madsen KL, Preisler N, Hilton-Jones D, Quinlivan R, Toscano A, Vissing J. Buch AE, et al. Among authors: quinlivan r. JIMD Rep. 2021 Jun 14;61(1):60-66. doi: 10.1002/jmd2.12232. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485019 Free PMC article.
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.
Lucia A, Martinuzzi A, Nogales-Gadea G, Quinlivan R, Reason S; International Association for Muscle Glycogen Storage Disease study group. Lucia A, et al. Among authors: quinlivan r. Neuromuscul Disord. 2021 Dec;31(12):1296-1310. doi: 10.1016/j.nmd.2021.10.006. Epub 2021 Oct 28. Neuromuscul Disord. 2021. PMID: 34848128 Free article. No abstract available.
186 results