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195 results

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Page 1
Urogenital symptoms in mitochondrial disease: overlooked and undertreated.
Poole OV, Uchiyama T, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Holmes S, James N, Bugiardini E, Woodward C, Quinlivan R, Emmanuel A, Hanna MG, Panicker JN, Pitceathly RDS. Poole OV, et al. Among authors: quinlivan r. Eur J Neurol. 2019 Aug;26(8):1111-1120. doi: 10.1111/ene.13952. Epub 2019 Apr 30. Eur J Neurol. 2019. PMID: 30884027 Free PMC article.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.
Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Figueroa-Bonaparte S, et al. Among authors: quinlivan r. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):680-1. doi: 10.1136/jnnp-2015-310362. Epub 2015 Jun 23. J Neurol Neurosurg Psychiatry. 2016. PMID: 26105173 Free PMC article. No abstract available.
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy.
Quinlivan R, Messer B, Murphy P, Astin R, Mukherjee R, Khan J, Emmanuel A, Wong SC, Kulshresha R, Willis T, Pattni J, Willis D, Morgan A, Savvatis K, Keen R, Bourke J, Marini Bettolo C, Hewamadduma C; ANSN. Quinlivan R, et al. J Neuromuscul Dis. 2021;8(6):899-926. doi: 10.3233/JND-200609. J Neuromuscul Dis. 2021. PMID: 34511509 Free PMC article.
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC. Knuiman GJ, et al. Among authors: quinlivan r. J Neurol. 2019 Apr;266(4):876-887. doi: 10.1007/s00415-019-09209-z. Epub 2019 Feb 20. J Neurol. 2019. PMID: 30788618 Free PMC article.
Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) - Therapy Guidelines.
Narayan S, Pietrusz A, Allen J, DiMarco M, Docherty K, Emery N, Ennis M, Flesher R, Foo W, Freebody J, Gallagher E, Grose N, Harris D, Hewamadduma C, Holmes S, James MK, Maidment L, Mayhew A, Moat D, Moorcroft N, Muni-Lofra R, Nevin K, Quinlivan R, Slimming J, Sodhi J, Stuart D, Julien Y; ANSN. Narayan S, et al. Among authors: quinlivan r. J Neuromuscul Dis. 2022;9(3):365-381. doi: 10.3233/JND-210707. J Neuromuscul Dis. 2022. PMID: 35124658 Free article. No abstract available.
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG. Jain RK, et al. Among authors: quinlivan r. Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21. Neurology. 2012. PMID: 22442437 No abstract available.
195 results