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591 results

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Page 1
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. Sarkozy A, et al. Among authors: petty r. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.
Graham CD, Weinman J, Sadjadi R, Chalder T, Petty R, Hanna MG, Turner C, Parton M, Maddison P, Radunovic A, Longman C, Robb Y, Bushby K, Hilton-Jones D, Rose MR. Graham CD, et al. Among authors: petty r. Clin Rehabil. 2014 May;28(5):508-19. doi: 10.1177/0269215513511340. Epub 2013 Nov 15. Clin Rehabil. 2014. PMID: 24240060
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: petty 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.
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.
Hamilton MJ, Robb Y, Cumming S, Gregory H, Duncan A, Rahman M, McKeown A, McWilliam C, Dean J, Wilcox A, Farrugia ME, Cooper A, McGhie J, Adam B, Petty R; Scottish Myotonic Dystrophy Consortium; Longman C, Findlay I, Japp A, Monckton DG, Denvir MA. Hamilton MJ, et al. Among authors: petty r. PLoS One. 2017 Mar 21;12(3):e0174166. doi: 10.1371/journal.pone.0174166. eCollection 2017. PLoS One. 2017. PMID: 28323905 Free PMC article.
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.
Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmüller H. Wood L, et al. Among authors: petty r. J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10. J Neurol. 2017. PMID: 28397002 Free PMC article.
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
Cumming SA, Hamilton MJ, Robb Y, Gregory H, McWilliam C, Cooper A, Adam B, McGhie J, Hamilton G, Herzyk P, Tschannen MR, Worthey E, Petty R, Ballantyne B; Scottish Myotonic Dystrophy Consortium; Warner J, Farrugia ME, Longman C, Monckton DG. Cumming SA, et al. Among authors: petty r. Eur J Hum Genet. 2018 Nov;26(11):1635-1647. doi: 10.1038/s41431-018-0156-9. Epub 2018 Jul 2. Eur J Hum Genet. 2018. PMID: 29967337 Free PMC article.
Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S. Ashizawa T, et al. Among authors: petty r. Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Neurol Clin Pract. 2018. PMID: 30588381 Free PMC article. Review.
The prevalence of faecal incontinence in myotonic dystrophy type 1.
Petty RKH, Eugenicos MP, Hamilton MJ, Farrugia ME, Robb Y, Ballantyne R, Gregory H, McWilliam C, Longman C. Petty RKH, et al. Neuromuscul Disord. 2019 Jul;29(7):562-566. doi: 10.1016/j.nmd.2019.05.009. Epub 2019 Jun 7. Neuromuscul Disord. 2019. PMID: 31266721
The phenotypic and genotypic features of a Scottish cohort with McArdle disease.
Gandhi SE, Longman C, Petty RKH, Brennan KM, Stewart W, Kinch K, Töpf A, Straub V, Quinlivan R, Farrugia ME. Gandhi SE, et al. Among authors: petty rkh. Neuromuscul Disord. 2021 Aug;31(8):695-700. doi: 10.1016/j.nmd.2021.05.009. Epub 2021 May 30. Neuromuscul Disord. 2021. PMID: 34215481
591 results