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Items: 1 to 50 of 126

1.

Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading.

Olivier PA, De Paepe B, Aronica E, Berfelo F, Colman R, Amato A, Dimitri D, Gallardo E, Gherardi R, Goebel HH, Hilton-Jones D, Hofer M, Holton J, Schrøder HD, Selcen D, Stenzel W, de Visser M, De Bleecker JL.

Neurology. 2019 Aug 27;93(9):e889-e894. doi: 10.1212/WNL.0000000000008005. Epub 2019 Jul 29.

PMID:
31358616
2.

Statin-related myopathies.

Hilton-Jones D.

Pract Neurol. 2018 Apr;18(2):97-105. doi: 10.1136/practneurol-2017-001738. Epub 2018 Mar 1. Review.

PMID:
29496886
3.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

4.

Thymus imaging in myasthenia gravis: The relevance in clinical practice.

Klimiec E, Quirke M, Leite MI, Hilton-Jones D.

Muscle Nerve. 2018 Feb 9. doi: 10.1002/mus.26096. [Epub ahead of print]

PMID:
29424940
5.

Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy.

Choudry TN, Hilton-Jones D, Lennox G, Houlden H.

Pract Neurol. 2018 Feb;18(1):52-56. doi: 10.1136/practneurol-2017-001711. Epub 2017 Dec 6.

PMID:
29212862
6.

The Association of British Neurologists' myasthenia gravis guidelines.

Sussman J, Farrugia ME, Maddison P, Hill M, Leite MI, Hilton-Jones D.

Ann N Y Acad Sci. 2018 Jan;1412(1):166-169. doi: 10.1111/nyas.13503. Epub 2017 Nov 9.

PMID:
29121404
7.

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T.

Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.

8.

IgG-specific cell-based assay detects potentially pathogenic MuSK-Abs in seronegative MG.

Huda S, Waters P, Woodhall M, Leite MI, Jacobson L, De Rosa A, Maestri M, Ricciardi R, Heckmann JM, Maniaol A, Evoli A, Cossins J, Hilton-Jones D, Vincent A.

Neurol Neuroimmunol Neuroinflamm. 2017 Jun 5;4(4):e357. doi: 10.1212/NXI.0000000000000357. eCollection 2017 Jul.

9.

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.

J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10.

10.

Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

Lilleker JB, Rietveld A, Pye SR, Mariampillai K, Benveniste O, Peeters MT, Miller JA, Hanna MG, Machado PM, Parton MJ, Gheorghe KR, Badrising UA, Lundberg IE, Sacconi S, Herbert MK, McHugh NJ, Lecky BR, Brierley C, Hilton-Jones D, Lamb JA, Roberts ME, Cooper RG, Saris CG, Pruijn GJ, Chinoy H, van Engelen BG; all UKMYONET contributors.

Ann Rheum Dis. 2017 May;76(5):862-868. doi: 10.1136/annrheumdis-2016-210282. Epub 2017 Jan 25.

11.

Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA.

Price MA, Barghout V, Benveniste O, Christopher-Stine L, Corbett A, de Visser M, Hilton-Jones D, Kissel JT, Lloyd TE, Lundberg IE, Mastaglia F, Mozaffar T, Needham M, Schmidt J, Sivakumar K, DeMuro C, Tseng BS.

J Neuromuscul Dis. 2016 Mar 3;3(1):67-75.

12.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium.

Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8.

13.

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.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

14.

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Müller-Felber W, Schoser B.

Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.

15.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

16.

Bending over forwards - to make a diagnosis.

Hilton-Jones D.

Eur J Neurol. 2016 Jun;23(6):993-4. doi: 10.1111/ene.12999. Epub 2016 Apr 1. No abstract available.

PMID:
27037740
17.

Diagnostic criteria for inclusion body myositis.

Hilton-Jones D, Brady S.

J Intern Med. 2016 Jul;280(1):52-62. doi: 10.1111/joim.12480. Epub 2016 Mar 30. Review.

18.

A protocol to develop clinical guidelines for inclusion-body myositis.

Jones KL, Sejersen T, Amato AA, Hilton-Jones D, Schmidt J, Wallace AC, Badrising UA, Rose MR; IBM Guideline Development Group.

Muscle Nerve. 2016 Apr;53(4):503-7. doi: 10.1002/mus.25036. Epub 2016 Feb 22. Review.

19.

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

Diot A, Hinks-Roberts A, Lodge T, Liao C, Dombi E, Morten K, Brady S, Fratter C, Carver J, Muir R, Davis R, Green CJ, Johnston I, Hilton-Jones D, Sue C, Mortiboys H, Poulton J.

Pharmacol Res. 2015 Oct;100:24-35. doi: 10.1016/j.phrs.2015.07.014. Epub 2015 Jul 18.

PMID:
26196248
20.

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.

J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):680-1. doi: 10.1136/jnnp-2015-310362. Epub 2015 Jun 23. No abstract available.

21.

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P, Horvath R.

J Neurol. 2015 Aug;262(8):1899-908. doi: 10.1007/s00415-015-7778-4. Epub 2015 Jun 2.

22.

Myasthenia gravis: Association of British Neurologists' management guidelines.

Sussman J, Farrugia ME, Maddison P, Hill M, Leite MI, Hilton-Jones D.

Pract Neurol. 2015 Jun;15(3):199-206. doi: 10.1136/practneurol-2015-001126. Review.

PMID:
25977271
23.

Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis.

Rodríguez Cruz PM, Al-Hajjar M, Huda S, Jacobson L, Woodhall M, Jayawant S, Buckley C, Hilton-Jones D, Beeson D, Vincent A, Leite MI, Palace J.

JAMA Neurol. 2015 Jun;72(6):642-9. doi: 10.1001/jamaneurol.2015.0203.

24.

Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.

Dabby R, Sadeh M, Hilton-Jones D, Plotz P, Hackman P, Vihola A, Udd B, Leshinsky-Silver E.

J Neurol Sci. 2015 Apr 15;351(1-2):120-123. doi: 10.1016/j.jns.2015.03.001. Epub 2015 Mar 6.

PMID:
25772186
25.

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#).

Neurobiol Aging. 2015 Apr;36(4):1766.e1-1766.e3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14.

26.

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.

Benveniste O, Stenzel W, Hilton-Jones D, Sandri M, Boyer O, van Engelen BG.

Acta Neuropathol. 2015 May;129(5):611-24. doi: 10.1007/s00401-015-1384-5. Epub 2015 Jan 13. Review.

27.

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands.

De Bleecker JL, De Paepe B, Aronica E, de Visser M; ENMC Myositis Muscle Biopsy Study Group, Amato A, Aronica E, Benveniste O, De Bleecker J, de Boer O, De Paepe B, de Visser M, Dimachkie M, Gherardi R, Goebel HH, Hilton-Jones D, Holton J, Lundberg IE, Mammen A, Mastaglia F, Nishino I, Rushing E, Schroder HD, Selcen D, Stenzel W.

Neuromuscul Disord. 2015 Mar;25(3):268-72. doi: 10.1016/j.nmd.2014.12.001. Epub 2014 Dec 10. No abstract available.

PMID:
25572016
28.

Myotonic dystrophy: diagnosis, management and new therapies.

Turner C, Hilton-Jones D.

Curr Opin Neurol. 2014 Oct;27(5):599-606. doi: 10.1097/WCO.0000000000000128. Review.

PMID:
25121518
29.

Myositis mimics: how to recognize them.

Hilton-Jones D.

Curr Opin Rheumatol. 2014 Nov;26(6):663-70. doi: 10.1097/BOR.0000000000000101. Review.

PMID:
25105740
30.

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis.

Brady S, Squier W, Sewry C, Hanna M, Hilton-Jones D, Holton JL.

BMJ Open. 2014 Apr 28;4(4):e004552. doi: 10.1136/bmjopen-2013-004552. Erratum in: BMJ Open. 2014;4(5):e004552.

31.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

32.

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.

Clin Rehabil. 2014 May;28(5):508-19. doi: 10.1177/0269215513511340. Epub 2013 Nov 15.

PMID:
24240060
33.

MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011.

Turner C, Hilton-Jones D, Lochmüller H, Hanna MG.

Neuromuscul Disord. 2013 Dec;23(12):1069-80. doi: 10.1016/j.nmd.2013.07.006. Epub 2013 Sep 18. No abstract available.

PMID:
24054840
34.

Clinical assessment determines the diagnosis of inclusion body myositis independently of pathological features.

Brady S, Squier W, Hilton-Jones D.

J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1240-6. doi: 10.1136/jnnp-2013-305690. Epub 2013 Jul 16.

PMID:
23864699
35.

Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.

Norwood F, Dhanjal M, Hill M, James N, Jungbluth H, Kyle P, O'Sullivan G, Palace J, Robb S, Williamson C, Hilton-Jones D, Nelson-Piercy C.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):538-43. doi: 10.1136/jnnp-2013-305572. Epub 2013 Jun 11.

PMID:
23757420
36.

EFNS review on the role of muscle biopsy in the investigation of myalgia.

Kyriakides T, Angelini C, Schaefer J, Mongini T, Siciliano G, Sacconi S, Joseph J, Burgunder JM, Bindoff LA, Vissing J, de Visser M, Hilton-Jones D.

Eur J Neurol. 2013 Jul;20(7):997-1005. doi: 10.1111/ene.12174. Epub 2013 Apr 30. Review.

PMID:
23627674
37.

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.

Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12.

PMID:
23606453
38.

Longitudinal observational study of sporadic inclusion body myositis: implications for clinical trials.

Cortese A, Machado P, Morrow J, Dewar L, Hiscock A, Miller A, Brady S, Hilton-Jones D, Parton M, Hanna MG.

Neuromuscul Disord. 2013 May;23(5):404-12. doi: 10.1016/j.nmd.2013.02.010. Epub 2013 Mar 11.

PMID:
23489664
39.

Presence and pathogenic relevance of antibodies to clustered acetylcholine receptor in ocular and generalized myasthenia gravis.

Jacob S, Viegas S, Leite MI, Webster R, Cossins J, Kennett R, Hilton-Jones D, Morgan BP, Vincent A.

Arch Neurol. 2012 Aug;69(8):994-1001. doi: 10.1001/archneurol.2012.437.

PMID:
22689047
40.

Myasthenia gravis and neuromyelitis optica spectrum disorder: a multicenter study of 16 patients.

Leite MI, Coutinho E, Lana-Peixoto M, Apostolos S, Waters P, Sato D, Melamud L, Marta M, Graham A, Spillane J, Villa AM, Callegaro D, Santos E, da Silva AM, Jarius S, Howard R, Nakashima I, Giovannoni G, Buckley C, Hilton-Jones D, Vincent A, Palace J.

Neurology. 2012 May 15;78(20):1601-7. doi: 10.1212/WNL.0b013e31825644ff. Epub 2012 May 2.

41.

Fracture rate in patients with myasthenia gravis: the general practice research database.

Pouwels S, de Boer A, Javaid MK, Hilton-Jones D, Verschuuren J, Cooper C, Leufkens HG, de Vries F.

Osteoporos Int. 2013 Feb;24(2):467-76. doi: 10.1007/s00198-012-1970-5. Epub 2012 Apr 25.

42.

Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1--the patients' perspective.

Hilton-Jones D, Bowler M, Lochmueller H, Longman C, Petty R, Roberts M, Rogers M, Turner C, Wilcox D.

Neuromuscul Disord. 2012 Jul;22(7):597-603. doi: 10.1016/j.nmd.2012.02.005. Epub 2012 Mar 16.

PMID:
22425060
43.

Physical training for McArdle disease.

Quinlivan R, Vissing J, Hilton-Jones D, Buckley J.

Cochrane Database Syst Rev. 2011 Dec 7;(12):CD007931. doi: 10.1002/14651858.CD007931.pub2. Review.

PMID:
22161416
44.

Long-term observational study of sporadic inclusion body myositis.

Benveniste O, Guiguet M, Freebody J, Dubourg O, Squier W, Maisonobe T, Stojkovic T, Leite MI, Allenbach Y, Herson S, Brady S, Eymard B, Hilton-Jones D.

Brain. 2011 Nov;134(Pt 11):3176-84. doi: 10.1093/brain/awr213. Epub 2011 Oct 12.

PMID:
21994327
45.

Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.

Robinson DO, Hilton-Jones D, Mansfield D, Hildebrand GD, Marks S, Mechan D, Ramsay J.

Neuromuscul Disord. 2011 Nov;21(11):809-11. doi: 10.1016/j.nmd.2011.06.003. Epub 2011 Jul 13.

PMID:
21742497
46.

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmüller H, Bushby K, Straub V.

Eur J Hum Genet. 2011 Oct;19(10):1038-44. doi: 10.1038/ejhg.2011.84. Epub 2011 Jun 1.

47.

Supported community exercise in people with long-term neurological conditions: a phase II randomized controlled trial.

Elsworth C, Winward C, Sackley C, Meek C, Freebody J, Esser P, Izadi H, Soundy A, Barker K, Hilton-Jones D, Lowe CM, Paget S, Tims M, Parnell R, Patel S, Wade D, Dawes H.

Clin Rehabil. 2011 Jul;25(7):588-98. doi: 10.1177/0269215510392076. Epub 2011 Mar 7.

PMID:
21382866
48.

Observations on the classification of the inflammatory myopathies.

Hilton-Jones D.

Presse Med. 2011 Apr;40(4 Pt 2):e199-208. doi: 10.1016/j.lpm.2010.10.035. Epub 2011 Mar 5. Review.

49.

Clinical Dutch-English Lambert-Eaton Myasthenic syndrome (LEMS) tumor association prediction score accurately predicts small-cell lung cancer in the LEMS.

Titulaer MJ, Maddison P, Sont JK, Wirtz PW, Hilton-Jones D, Klooster R, Willcox N, Potman M, Sillevis Smitt PA, Kuks JB, Roep BO, Vincent A, van der Maarel SM, van Dijk JG, Lang B, Verschuuren JJ.

J Clin Oncol. 2011 Mar 1;29(7):902-8. doi: 10.1200/JCO.2010.32.0440. Epub 2011 Jan 18.

PMID:
21245427
50.

Open letter to prime minister David Cameron and health secretary Andrew Lansley.

Nicholl DJ, Hilton-Jones D, Palace J, Richmond S, Finlayson S, Winer J, Weir A, Maddison P, Fletcher N, Sussman J, Silver N, Nixon J, Kullmann D, Embleton N, Beeson D, Farrugia ME, Hill M, McDermott C, Llewelyn G, Leonard J, Morris M.

BMJ. 2010 Nov 16;341:c6466. doi: 10.1136/bmj.c6466. No abstract available.

PMID:
21081599

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