David Hilton-Jones

• Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.

  Journal article

  Figueroa-Bonaparte S. et al, (2016), J Neurol Neurosurg Psychiatry, 87, 680 - 681

• 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.

  Journal article

  Diot A. et al, (2015), Pharmacol Res, 100, 24 - 35

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

  Journal article

  Bansagi B. et al, (2015), Journal of Neurology, 262, 1899 - 1908

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

  Journal article

  Bansagi B. et al, (2015), J Neurol, 262, 1899 - 1908

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

  Journal article

  Rodríguez Cruz PM. et al, (2015), JAMA Neurol, 72, 642 - 649

• Myasthenia gravis: Association of British Neurologists' management guidelines.

  Journal article

  Sussman J. et al, (2015), Pract Neurol, 15, 199 - 206

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

  Journal article

  Benveniste O. et al, (2015), Acta Neuropathol, 129, 611 - 624

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

  Journal article

  Benveniste O. et al, (2015), Acta Neuropathologica, 129, 611 - 624

• Adult onset limb-girdle muscular dystrophy - A recessive titinopathy masquerading as myositis

  Journal article

  Dabby R. et al, (2015), Journal of the Neurological Sciences, 351, 120 - 123

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

  Journal article

  Dabby R. et al, (2015), J Neurol Sci, 351, 120 - 123

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

  Journal article

  Gang Q. et al, (2015), Neurobiol Aging, 36, 1766.e1 - 1766.e3

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

  Journal article

  De Bleecker JL. et al, (2015), Neuromuscular Disorders, 25, 268 - 272

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

  Journal article

  De Bleecker JL. et al, (2015), Neuromuscul Disord, 25, 268 - 272

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

  Journal article

  Gang Q. et al, (2015), Neurobiology of Aging, 36, 1766.e1 - 1766.e3

• UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry.

  Journal article

  Wood L. et al, (2014), Orphanet J Rare Dis, 9

• Myositis mimics: how to recognize them.

  Journal article

  Hilton-Jones D., (2014), Curr Opin Rheumatol, 26, 663 - 670

• Myotonic dystrophy: diagnosis, management and new therapies.

  Journal article

  Turner C. and Hilton-Jones D., (2014), Curr Opin Neurol, 27, 599 - 606

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

  Journal article

  Lamont PJ. et al, (2014), Hum Mutat, 35, 868 - 879

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

  Journal article

  Norwood F. et al, (2014), J Neurol Neurosurg Psychiatry, 85, 538 - 543

• A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.

  Journal article

  Graham CD. et al, (2014), Clin Rehabil, 28, 508 - 519

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

  Journal article

  Brady S. et al, (2014), BMJ Open, 4

• Myasthenia in pregnancy: Best practice guidelines from a UK multispecialty working group

  Journal article

  Norwood F. et al, (2014), Journal of Neurology, Neurosurgery and Psychiatry, 85, 538 - 543

• Myotonic dystrophy: Diagnosis, management and new therapies

  Journal article

  Turner C. and Hilton-Jones D., (2014), Current Opinion in Neurology, 27, 599 - 606

• Myositis mimics: How to recognize them

  Journal article

  Hilton-Jones D., (2014), Current Opinion in Rheumatology, 26, 663 - 670

• 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

  Journal article

  Turner C. et al, (2013), Neuromuscular Disorders, 23, 1069 - 1080

• 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.

  Journal article

  Turner C. et al, (2013), Neuromuscul Disord, 23, 1069 - 1080

• Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.

  Journal article

  Miller FW. et al, (2013), Arthritis Rheum, 65, 3239 - 3247

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

  Journal article

  Brady S. et al, (2013), J Neurol Neurosurg Psychiatry, 84, 1240 - 1246

• Emergency neuromuscular admissions are avoidable: a regional audit of unplanned hospital admissions of neuromuscular patients 2009-2011: final results and recommendations.

  Journal article

  Jaffer F. et al, (2013), J Neurol Neurosurg Psychiatry, 84

• 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

  Journal article

  Sarkozy A. et al, (2013), Human Mutation, 34, 1111 - 1118

• 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.

  Journal article

  Sarkozy A. et al, (2013), Hum Mutat, 34, 1111 - 1118

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

  Journal article

  Kyriakides T. et al, (2013), European Journal of Neurology, 20, 997 - 1005

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

  Journal article

  Kyriakides T. et al, (2013), Eur J Neurol, 20, 997 - 1005

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

  Journal article

  Cortese A. et al, (2013), Neuromuscul Disord, 23, 404 - 412

• Longitudinal observational study of sporadic inclusion body myositis: Implications for clinical trials

  Journal article

  Cortese A. et al, (2013), Neuromuscular Disorders, 23, 404 - 412

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

  Journal article

  Pouwels S. et al, (2013), Osteoporos Int, 24, 467 - 476

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

  Journal article

  Brady S. et al, (2013), Journal of Neurology, Neurosurgery and Psychiatry, 84, 1240 - 1246

• Myopathies in the adult patient

  Journal article

  Hilton-Jones D., (2012), Medicine (United Kingdom), 40, 558 - 565

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

  Journal article

  Jacob S. et al, (2012), Arch Neurol, 69, 994 - 1001

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

  Journal article

  Hilton-Jones D. et al, (2012), Neuromuscul Disord, 22, 597 - 603

• Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 - The patients' perspective

  Journal article

  Hilton-Jones D. et al, (2012), Neuromuscular Disorders, 22, 597 - 603

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

  Journal article

  Leite MI. et al, (2012), Neurology, 78, 1601 - 1607

• Muscle Disorders

  Chapter

  Hilton-Jones D., (2012), Pathy's Principles and Practice of Geriatric Medicine: Fifth Edition, 1, 779 - 792

• Physical training for McArdle disease.

  Journal article

  Quinlivan R. et al, (2011), Cochrane Database Syst Rev

• Physical training for McArdle disease.

  Journal article

  Quinlivan R. et al, (2011), Cochrane database of systematic reviews (Online), 12

• Long-term observational study of sporadic inclusion body myositis.

  Journal article

  Benveniste O. et al, (2011), Brain, 134, 3176 - 3184

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

  Journal article

  Robinson DO. et al, (2011), Neuromuscul Disord, 21, 809 - 811

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

  Journal article

  Sarkozy A. et al, (2011), Eur J Hum Genet, 19, 1038 - 1044

• Diagnostic Approach to Pauci-or Asymptomatic hyperCKemia

  Chapter

  Kyriakides T. et al, (2011), European Handbook of Neurological Management, 2, 279 - 286

• Neuromuscular Disorders in the Intensive Care Unit

  Chapter

  Damian MS. and Hilton-Jones D., (2011), Neuromuscular Disorders, 243 - 248

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

  Journal article

  Elsworth C. et al, (2011), Clin Rehabil, 25, 588 - 598

• Response

  Journal article

  Hilton-Jones D., (2011), Neuromuscular Disorders, 21, 524 - 525

• The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome.

  Journal article

  Maddison P. et al, (2011), J Neurol Neurosurg Psychiatry, 82, 671 - 673

• Observations on the classification of the inflammatory myopathies.

  Journal article

  Hilton-Jones D., (2011), Presse Med, 40, e199 - e208

• Observations on the classification of the inflammatory myopathies

  Journal article

  Hilton-Jones D., (2011), Presse Medicale, 40

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

  Journal article

  Titulaer MJ. et al, (2011), J Clin Oncol, 29, 902 - 908

• Oculopharyngodistal myopathy--a possible association with cardiomyopathy.

  Journal article

  Thevathasan W. et al, (2011), Neuromuscul Disord, 21, 121 - 125

• Authors' reply to BioMarin Europe

  Journal article

  Nicholl DJ. et al, (2011), BMJ, 342

• Long-term observational study of sporadic inclusion body myositis

  Journal article

  Benveniste O. et al, (2011), Brain, 134, 3176 - 3184

• The role of rituximab in the treatment of myasthenia gravis

  Journal article

  Benveniste O. and Hilton-Jones D., (2010), European Neurological Review, 5, 95 - 100

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

  Journal article

  Nicholl DJ. et al, (2010), BMJ, 341

• Autoimmune Neuromuscular Transmission Disorders

  Chapter

  Skeie GO. et al, (2010), European Handbook of Neurological Management: Second Edition, 1, 321 - 331

• Guidelines for treatment of autoimmune neuromuscular transmission disorders.

  Journal article

  Skeie GO. et al, (2010), Eur J Neurol, 17, 893 - 902

• EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.

  Journal article

  Kyriakides T. et al, (2010), Eur J Neurol, 17, 767 - 773

• International Workshop on Inclusion Body Myositis held at the Institute of Myology, Paris, on 29 May 2009.

  Journal article

  Benveniste O. and Hilton-Jones D., (2010), Neuromuscul Disord, 20, 414 - 421

• Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

  Journal article

  Zimoń M. et al, (2010), Brain, 133, 1798 - 1809

• Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

  Journal article

  Zimoń M. et al, (2010), Brain, 133, 1798 - 1809

• Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

  Journal article

  Tajsharghi H. et al, (2010), Brain, 133, 1451 - 1459

• Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

  Journal article

  Tajsharghi H. et al, (2010), Brain, 133, 1451 - 1459

• The myotonic dystrophies: diagnosis and management.

  Journal article

  Turner C. and Hilton-Jones D., (2010), J Neurol Neurosurg Psychiatry, 81, 358 - 367

• Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008.

  Journal article

  Hilton-Jones D. et al, (2010), Neuromuscul Disord, 20, 142 - 147

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

  Journal article

  Nicholl DJ. et al, (2010), BMJ (Clinical research ed.), 341

• Myasthenia gravis and other neuromuscular junction disorders.

  Journal article

  Jacob S. et al, (2009), Pract Neurol, 9, 364 - 371

• In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

  Journal article

  Shatunov A. et al, (2009), Eur J Hum Genet, 17, 656 - 663

• Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

  Journal article

  Schoser B. et al, (2009), Neuromuscul Disord, 19, 223 - 228

• A study of perceived facilitators to physical activity in neurological conditions

  Journal article

  Elsworth C. et al, (2009), International Journal of Therapy and Rehabilitation, 16, 17 - 23

• Approach to critical illness polyneuropathy and myopathy.

  Journal article

  Pati S. et al, (2008), Postgrad Med J, 84, 354 - 360

• Caveolinopathy--new mutations and additional symptoms.

  Journal article

  Aboumousa A. et al, (2008), Neuromuscul Disord, 18, 572 - 578

• Myasthenia gravis seronegative for acetylcholine receptor antibodies.

  Journal article

  Vincent A. et al, (2008), Ann N Y Acad Sci, 1132, 84 - 92

• Myopathy associated with statin therapy.

  Journal article

  Hilton-Jones D., (2008), Neuromuscul Disord, 18, 97 - 98

• When the patient fails to respond to treatment: myasthenia gravis.

  Journal article

  Hilton-Jones D., (2007), Pract Neurol, 7, 405 - 411

• A young man with rapidly progressive multifocal disease affecting the white matter.

  Journal article

  Hilton-Jones D. et al, (2007), Pract Neurol, 7, 172 - 181

• Quantitative EMG studies to assess facial muscle atrophy in MuSK antibody positive myasthenia gravis

  Journal article

  Farrugia ME. et al, (2007), Clinical Neurophysiology, 118, 1174 - 1175

• Quantitative EMG of facial muscles in myasthenia patients with MuSK antibodies.

  Journal article

  Farrugia ME. et al, (2007), Clin Neurophysiol, 118, 269 - 277

• Miscellaneous myopathies.

  Journal article

  Hilton-Jones D., (2007), Handb Clin Neurol, 86, 397 - 409

• Myotonic dystrophy: practical issues relating to assessment of strength.

  Journal article

  Whittaker RG. et al, (2006), J Neurol Neurosurg Psychiatry, 77, 1282 - 1283

• Myopathies in the older patient

  Journal article

  Hilton-Jones D. and Damian MS., (2006), Reviews in Clinical Gerontology, 16, 209 - 229

• Guidelines for the treatment of autoimmune neuromuscular transmission disorders.

  Journal article

  Skeie GO. et al, (2006), Eur J Neurol, 13, 691 - 699

• MRI and clinical studies of facial and bulbar muscle involvement in MuSK antibody-associated myasthenia gravis.

  Journal article

  Farrugia ME. et al, (2006), Brain, 129, 1481 - 1492

• Single-fiber electromyography in limb and facial muscles in muscle-specific kinase antibody and acetylcholine receptor antibody myasthenia gravis.

  Journal article

  Farrugia ME. et al, (2006), Muscle Nerve, 33, 568 - 570

• In adult onset myositis, the presence of interstitial lung disease and myositis specific/associated antibodies are governed by HLA class II haplotype, rather than by myositis subtype.

  Journal article

  Chinoy H. et al, (2006), Arthritis Res Ther, 8

• Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

  Journal article

  Davies NP. et al, (2005), Neurology, 65, 1083 - 1089

• Clinical and molecular aspects of the myotonic dystrophies: a review.

  Journal article

  Machuca-Tzili L. et al, (2005), Muscle Nerve, 32, 1 - 18

• A swollen calf.

  Journal article

  Khan SY. et al, (2005), Lancet, 365

• The management of myasthenia gravis

  Journal article

  Hilton-Jones D. and Palace J., (2005), Practical Neurology, 5, 18 - 27

• [Pathogenesis of primary inflammatory myopathies].

  Journal article

  Benveniste O. et al, (2004), Presse Med, 33, 1444 - 1450

• Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

  Journal article

  Poppe M. et al, (2004), Ann Neurol, 56, 738 - 741

• Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

  Journal article

  Mercuri E. et al, (2004), Neuropediatrics, 35, 224 - 229

• Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

  Journal article

  Evgrafov OV. et al, (2004), Nat Genet, 36, 602 - 606

• Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.

  Journal article

  Irobi J. et al, (2004), Nat Genet, 36, 597 - 601

• Beevor's sign

  Journal article

  Hilton-Jones D., (2004), Practical Neurology, 4, 176 - 177

• Myasthenia gravis and Lambert-Eaton myasthenic syndrome

  Journal article

  Palace J. and Hilton-Jones D., (2004), Medicine, 32, 114 - 118

• How good at neurology are you? (multiple letters) [2]

  Journal article

  Hilton-Jones D. and Goldsmith P., (2003), Practical Neurology, 3, 383 - 384

• Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

  Journal article

  Burke G. et al, (2003), Neurology, 61, 826 - 828

• Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy.

  Journal article

  Talbot K. et al, (2003), Neuromuscul Disord, 13, 357 - 364

• Diagnosis and treatment of inflammatory muscle diseases.

  Journal article

  Hilton-Jones D., (2003), J Neurol Neurosurg Psychiatry, 74 Suppl 2, ii25 - ii31

• Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

  Journal article

  Dagvadorj A. et al, (2003), Muscle Nerve, 27, 669 - 675

• The limb-girdle muscular dystrophies: genetic and phenotypic definition of a disputed entity.

  Journal article

  Wicklund MP. and Hilton-Jones D., (2003), Neurology, 60, 1230 - 1231

• Long-term management of blood pressure after stroke (multiple letters) [2]

  Journal article

  Hilton-Jones D. and Anderson C., (2003), Practical Neurology, 3, 61 - 62

• Three cases of androgen-dependent disease associated with myotonic dystrophy.

  Journal article

  Cooper SM. et al, (2003), J Eur Acad Dermatol Venereol, 17, 56 - 58

• Syncoilin accumulation in two patients with desmin-related myopathy.

  Journal article

  Howman EV. et al, (2003), Neuromuscul Disord, 13, 42 - 48

• Desmin myopathy: Distinct filamentopathy caused by mutations in the desmin gene

  Journal article

  Dalakas MC. et al, (2002), Acta Myologica, 21, 138 - 143

• Diagnose myasthenia gravis

  Journal article

  Hilton-Jones D., (2002), Practical Neurology, 2, 173 - 177

• Mitochondrial cytopathy

  Journal article

  Hilton-Jones D., (2002), Practical Neurology, 2, 55 - 57

• Inclusion body myositis

  Journal article

  Hilton-Jones D., (2002), Practical Neurology, 2, 294 - 297

• Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

  Journal article

  Lee MJ. et al, (2002), J Neurol Neurosurg Psychiatry, 73, 304 - 306

• Reduced oxidative phosphorylation and proton efflux suggest reduced capillary blood supply in skeletal muscle of patients with dermatomyositis and polymyositis: A quantitative ³¹P-magnetic resonance spectroscopy and MRI study

  Journal article

  Cea G. et al, (2002), Brain, 125, 1635 - 1645

• Reduced oxidative phosphorylation and proton efflux suggest reduced capillary blood supply in skeletal muscle of patients with dermatomyositis and polymyositis: a quantitative 31P-magnetic resonance spectroscopy and MRI study.

  Journal article

  Cea G. et al, (2002), Brain, 125, 1635 - 1645

• An expanded cortical representation for hand movement after peripheral motor denervation.

  Journal article

  Reddy H. et al, (2002), J Neurol Neurosurg Psychiatry, 72, 203 - 210

• Classification and diagnosis of myopathies - An update

  Journal article

  Hilton-Jones D., (2001), CPD Bulletin Neurology, 2, 71 - 74

• McArdle's disease

  Journal article

  Hilton-Jones D., (2001), Practical Neurology, 1, 122 - 125

• Myopathies

  Journal article

  Hilton-Jones D., (2001), Reviews in Clinical Gerontology, 11, 131 - 147

• Inflammatory muscle diseases.

  Journal article

  Hilton-Jones D., (2001), Curr Opin Neurol, 14, 591 - 596

• Does cytosine-thymine-guanine (CTG) expansion size predict cardiac events and electrocardiographic progression in myotonic dystrophy?

  Journal article

  Clarke NR. et al, (2001), Heart, 86, 411 - 416

• Myasthenia gravis.

  Journal article

  Vincent A. et al, (2001), Lancet, 357, 2122 - 2128

• Oculopharyngeal muscular dystrophy phenotypic and genotypic studies in a UK population

  Journal article

  Hill ME. et al, (2001), Brain, 124, 522 - 526

• Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.

  Journal article

  Hill ME. et al, (2001), Brain, 124, 522 - 526

• Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls.

  Journal article

  Grain L. et al, (2001), Neuromuscul Disord, 11, 186 - 191

• Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy.

  Journal article

  Crilley JG. et al, (2000), J Am Coll Cardiol, 36, 1953 - 1958

• New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC).

  Journal article

  (2000), Neurology, 54, 1218 - 1221

• Normal in vivo skeletal muscle oxidative metabolism in sporadic inclusion body myositis assessed by 31P-magnetic resonance spectroscopy.

  Journal article

  Lodi R. et al, (1998), Brain, 121 ( Pt 11), 2119 - 2126

• Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

  Journal article

  Horsley SW. et al, (1998), J Med Genet, 35, 722 - 726

• Myotonic dystrophy--forgotten aspects of an often neglected condition.

  Journal article

  Hilton-Jones D., (1997), Curr Opin Neurol, 10, 399 - 401

• Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.

  Journal article

  Metzinger L. et al, (1997), Hum Mol Genet, 6, 1185 - 1191

• Spontaneous intracranial hypotension.

  Journal article

  Renowden SA. et al, (1995), J Neurol Neurosurg Psychiatry, 59, 511 - 515

• Death after ecstasy ingestion: neuropathological findings.

  Journal article

  Squier MV. et al, (1995), J Neurol Neurosurg Psychiatry, 58

• Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

  Journal article

  Matthews PM. et al, (1995), Neuromuscul Disord, 5, 209 - 220

• Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother.

  Journal article

  Barnes PR. et al, (1995), Neuromuscul Disord, 5, 59 - 65

• Myopathies

  Journal article

  (1995), Reviews in Clinical Gerontology, 5, 275 - 288

• Incorrect diagnosis of myotonic dystrophy and its potential consequences revealed by subsequent direct genetic analysis.

  Journal article

  Barnes PR. et al, (1994), J Neurol Neurosurg Psychiatry, 57

• Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.

  Journal article

  Matthews PM. et al, (1994), J Med Genet, 31, 41 - 44

• Molecular genetics of myotonic dystrophy.

  Journal article

  Barnes PR. and Hilton-Jones D., (1993), Br J Hosp Med, 50

• Dystrophin-associated protein complex: clinical implications.

  Journal article

  Hilton-Jones D. and Squier MV., (1993), Lancet, 341, 528 - 529

• Risk of cancer in dermatomyositis or polymyositis.

  Journal article

  Hilton-Jones D. and Squier MV., (1992), N Engl J Med, 327

• Type 2 fiber predominance in Lambert-Eaton myasthenic syndrome.

  Journal article

  Squier M. et al, (1991), Muscle Nerve, 14, 625 - 632

• An unusual metabolic myopathy: a malate-aspartate shuttle defect.

  Journal article

  Hayes DJ. et al, (1987), J Neurol Sci, 82, 27 - 39

• The study of human organs by phosphorus-31 topical magnetic resonance spectroscopy.

  Journal article

  Oberhaensli RD. et al, (1987), Br J Radiol, 60, 367 - 373

• A new metabolic myopathy: A malate-aspartate-shuttle effect

  Journal article

  Hayes DJ. et al, (1986), Biochemical Society Transactions, 14, 1208 - 1209

• Valproate toxicity and ornithine carbamoyltransferase deficiency.

  Journal article

  Kay JD. et al, (1986), Lancet, 2, 1283 - 1284

• Biochemical investigation of human tumours in vivo with phosphorus-31 magnetic resonance spectroscopy.

  Journal article

  Oberhaensli RD. et al, (1986), Lancet, 2, 8 - 11

• Myasthenic crisis precipitated by iodinated contrast agents.

  Journal article

  Hilton-Jones D., (1986), Neurology, 36

• P-31 magnetic resonance studies of human brain at 2 T

  Journal article

  Oberhaensli RD. et al, (1986), Magnetic Resonance Imaging, 4, 417 - 419

• A mitochondrial encephalomyopathy. A combined 31P magnetic resonance and biochemical investigation.

  Journal article

  Hayes DJ. et al, (1985), J Neurol Sci, 71, 105 - 118

• Non-penetrating arterial trauma and cerebral infarction in the young.

  Journal article

  Hilton-Jones D. and Warlow CP., (1985), Lancet, 1, 1435 - 1438

• The causes of stroke in the young.

  Journal article

  Hilton-Jones D. and Warlow CP., (1985), J Neurol, 232, 137 - 143

• Motor neuron disease in England and Wales, 1959-1979.

  Journal article

  Buckley J. et al, (1983), J Neurol Neurosurg Psychiatry, 46, 197 - 205

• The significance of the incidental finding of basal ganglia calcification on computed tomography.

  Journal article

  Hilton-Jones D., (1982), J Neurol Neurosurg Psychiatry, 45, 942 - 943

• Transient visual obscurations, without papilloedema.

  Journal article

  Hilton-Jones D. et al, (1982), J Neurol Neurosurg Psychiatry, 45, 832 - 834

• Failure of postural manoeuvres to prevent lumbar puncture headache.

  Journal article

  Hilton-Jones D. et al, (1982), J Neurol Neurosurg Psychiatry, 45, 743 - 746

• Headache after lumbar puncture.

  Journal article

  Hilton-Jones D., (1981), Lancet, 2, 253 - 254

• Disorders of the neuromuscular junction

  Chapter

  Hilton-Jones, David None. and Palace J., Oxford Textbook of Medicine

Recent Publications

• Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK.

  Journal article

  Figueroa-Bonaparte S. et al, (2016), J Neurol Neurosurg Psychiatry, 87, 680 - 681

• 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.

  Journal article

  Diot A. et al, (2015), Pharmacol Res, 100, 24 - 35

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

  Journal article

  Bansagi B. et al, (2015), Journal of Neurology, 262, 1899 - 1908

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

  Journal article

  Bansagi B. et al, (2015), J Neurol, 262, 1899 - 1908

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

  Journal article

  Rodríguez Cruz PM. et al, (2015), JAMA Neurol, 72, 642 - 649