D. Hilton‐Jones

发表

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

W. Robberecht, R. Liem, O. Evgrafov, 2004, Nature Genetics.

Myotonic dystrophy: diagnosis, management and new therapies.

D. Hilton‐Jones, C. Turner, 2014, Current opinion in neurology.

Pharmacological treatment for muscle weakness and wasting in myotonic dystrophy

D. Hilton‐Jones, C. Turner, 2010 .

Clinical and molecular aspects of the myotonic dystrophies: A review

D. Hilton‐Jones, Laura E. Machuca-Tzili, D. Brook, 2005, Muscle & nerve.

Three cases of androgen‐dependent disease associated with myotonic dystrophy

R. Dawber, D. Hilton‐Jones, S. Cooper, 2003, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

S. Huson, D. Hilton‐Jones, G. Norbury, 1994, Journal of neurology, neurosurgery, and psychiatry.

Andersen–Tawil syndrome

F. Lehmann-Horn, M. G. Hanna, P. F. Chinnery, 2005, Neurology.

Disorders of Voluntary Muscle: The clinical assessment and a guide to classification of the myopathies

J. Kissel, D. Hilton‐Jones, 2010 .

Myasthenia gravis and neuromyelitis optica spectrum disorder

Jacqueline Palace, R. Howard, J. Palace, 2012, Neurology.

Myasthenia gravis and Lambert-Eaton myasthenic syndrome

J. Palace, D. Hilton‐Jones, 2000 .

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

A. Vincent, J. Cossins, M. Maestri, 2017, Neurology: Neuroimmunology & Neuroinflammation.

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

P. Matthews, M. Robson, A. Vincent, 2006, Brain : a journal of neurology.

Myasthenia Gravis Seronegative for Acetylcholine Receptor Antibodies

A. Vincent, M. Farrugia, D. Beeson, 2008, Annals of the New York Academy of Sciences.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

A. Forrest, G. Ravenscroft, N. Laing, 2021, bioRxiv.

Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial

A. Marx, S. Muley, R. Conwit, 2019, The Lancet Neurology.

Myasthenia gravis: Association of British Neurologists’ management guidelines

M. Farrugia, M. Leite, D. Hilton‐Jones, 2015, Practical Neurology.

Guidelines for treatment of autoimmune neuromuscular transmission disorders

N. Gilhus, J. Verschuuren, I. Illa, 2006, European journal of neurology.

Autoimmune Neuromuscular Transmission Disorders

N. Gilhus, J. Verschuuren, I. Illa, 2010 .

Guidelines for the treatment of autoimmune neuromuscular transmission disorders

N. Gilhus, J. Verschuuren, G. Skeie, 2006, European journal of neurology.

The Management of Myasthenia Gravis

J. Palace, D. Hilton‐Jones, 2005, Practical Neurology.

T he he management of manage m myasthenia gravis myasthenia g

J. Palace, D. Hilton‐Jones, 2005 .

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

D. Robinson, D. Hilton‐Jones, S. Hammans, 2001, Brain : a journal of neurology.

Inflammatory muscle diseases

D. Hilton‐Jones, 2001, Current opinion in neurology.

213th ENMC International Workshop: Outcome measures and clinical trial readiness in idiopathic inflammatory myopathies, Heemskerk, The Netherlands, 18–20 September 2015

Oakley, A. Mammen, J. Hogrel, 2016, Neuromuscular Disorders.

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

W. Stenzel, B. V. van Engelen, M. Sandri, 2015, Acta Neuropathologica.

NON-PENETRATING ARTERIAL TRAUMA AND CEREBRAL INFARCTION IN THE YOUNG

C. Warlow, D. Hilton‐Jones, 1985, The Lancet.

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

M. Burch, M. Cortina-Borja, D. Hilton‐Jones, 2001, Neuromuscular Disorders.

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

G. Radda, D. Hilton‐Jones, R. Oberhaensli, 1986 .

EFNS guidelines on the diagnostic approach to pauci‐ or asymptomatic hyperCKemia

C. Angelini, G. Siciliano, S. Sacconi, 2010, European journal of neurology.

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

Jacqueline A Palace, F. Norwood, H. Jungbluth, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Approach to critical illness polyneuropathy and myopathy

S. Iyadurai, J. Goodfellow, D. Hilton‐Jones, 2008, Postgraduate Medical Journal.

myopathy Approach to critical illness polyneuropathy and

S. Iyadurai, J. Goodfellow, D. Hilton‐Jones, 2008 .

Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I

J. Bourke, K. Bushby, F. Muntoni, 2004, Annals of neurology.

Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy

H. Houlden, G. Lennox, D. Hilton‐Jones, 2017, Practical Neurology.

Physiopathologie des myopathies inflammatoires primitives

W. Squier, O. Benveniste, D. Hilton‐Jones, 2004 .

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

K. Bushby, Hanns Lochmüller, M. Farrugia, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

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

J. Lamb, C. Saris, B. V. van Engelen, 2017, Annals of the rheumatic diseases.

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

J. Lamb, M. Roberts, C. Saris, 2017, Annals of the rheumatic diseases.

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

A. Kelion, J. Forfar, D. Hilton‐Jones, 2001, Heart.

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

A. Mammen, F. Mastaglia, E. Aronica, 2015, Neuromuscular Disorders.

Paediatric myasthenia gravis: Prognostic factors for drug free remission

J. Palace, A. Vincent, P. Munot, 2019, Neuromuscular Disorders.

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

D. Hilton‐Jones, 1982, Journal of neurology, neurosurgery, and psychiatry.

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

A. Vincent, M. Farrugia, J. Newsom-Davis, 2007, Clinical Neurophysiology.

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

A. Blamire, F. Muntoni, K. Clarke, 2000, Journal of the American College of Cardiology.

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

G. Radda, P. Styles, G. Galloway, 1987, The British journal of radiology.

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

P. Matthews, I. Craig, C. Sewry, 1995, Neuromuscular Disorders.

Oculopharyngodistal myopathy – A possible association with cardiomyopathy

D. MacIver, W. Squier, W. Thevathasan, 2010, Neuromuscular Disorders.

VALPROATE TOXICITY AND ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY

D. Hilton‐Jones, N. Hyman, JonathanD. S. Kay, 1986, The Lancet.

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

P. Chinnery, H. Lochmüller, R. Horvath, 2015, Journal of Neurology.

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

D. J. Hayes, D. Arnold, G. Radda, 1985, Journal of the Neurological Sciences.

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

I. Nelson, N. Wood, H. Houlden, 2002, Journal of neurology, neurosurgery, and psychiatry.

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

H. Lochmüller, M. Hanna, D. Hilton‐Jones, 2013, Neuromuscular Disorders.

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

C. Warlow, D. Hilton‐Jones, P. Smith, 1983, Journal of neurology, neurosurgery, and psychiatry.

The limb-girdle muscular dystrophies

D. Hilton‐Jones, M. Wicklund, 2003, Neurology.

Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 – The patients’ perspective

C. Longman, R. Petty, D. Hilton‐Jones, 2012, Neuromuscular Disorders.

224th ENMC International Workshop: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14–16 October 2016

A. Mammen, A. Pestronk, H. Goebel, 2017, Neuromuscular Disorders.

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.

D. Manners, P. Styles, R. Lodi, 2002, Brain : a journal of neurology.

The causes of stroke in the young

C. Warlow, D. Hilton‐Jones, 1985, Journal of Neurology.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

A. Schapira, G. Ravenscroft, N. Laing, 2016, Neuromuscular Disorders.

Neuromuscular Disorders in the Intensive Care Unit

D. Hilton‐Jones, M. Damian, 2011 .

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

J. Ironside, D. Hilton‐Jones, D. Simpson, 2007, Practical Neurology.

Observations on the classification of the inflammatory myopathies.

D. Hilton‐Jones, 2011, Presse medicale.

Risk of cancer in dermatomyositis or polymyositis.

D. Hilton‐Jones, M. Squier, 1992, The New England journal of medicine.

BIOCHEMICAL INVESTIGATION OF HUMAN TUMOURS IN VIVO WITH PHOSPHORUS-31 MAGNETIC RESONANCE SPECTROSCOPY

David Hilton-Jones, G. Radda, L. Hands, 1986, The Lancet.

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

B. Udd, A. Oldfors, D. Hilton‐Jones, 2010, Brain : a journal of neurology.

Failure of postural manoeuvres to prevent lumbar puncture headache.

C. Warlow, D. Hilton‐Jones, R. Harrad, 1982, Journal of neurology, neurosurgery, and psychiatry.

Assessment and management of myasthenic crisis: an evidenced-based approach

D. Hilton‐Jones, S. Jacob, S. Viegas, 2007 .

Transient visual obscurations, without papilloedema.

D. Hilton‐Jones, N. Graham, J. Ponsford, 1982, Journal of neurology, neurosurgery, and psychiatry.

Short report Transient visual obscurations, without papilloedema

D. Hilton‐Jones, J. Ponsford, N. GRAHAMt, 2022 .

Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.

K. Davies, L. Metzinger, D. Blake, 1997, Human molecular genetics.

Spontaneous intracranial hypotension.

S. Renowden, R. Gregory, D. Hilton‐Jones, 1995, Journal of neurology, neurosurgery, and psychiatry.

Myositis mimics: how to recognize them

D. Hilton‐Jones, 2014, Current opinion in rheumatology.

EMERGENCY NEUROMUSCULAR ADMISSIONS ARE AVOIDABLE: A REGIONAL AUDIT OF UNPLANNED HOSPITAL ADMISSIONS OF NEUROMUSCULAR PATIENTS 2009–2011: FINAL RESULTS AND RECOMMENDATIONS

F. Muntoni, M. Reilly, M. Hanna, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

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

P. Matthews, G. Brown, J. Hopkin, 1994, Journal of medical genetics.

MENINGITIS How long to treat bacterial meningitis

F. Shann, C. Heath, D. Hilton‐Jones, 1993, The Lancet.

The pathogenesis of myasthenic syndromes: A practical guide to diagnosis and management

D. Hilton‐Jones, S. Jacob, S. Viegas, 2007 .

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

S. Huson, L. Brueton, D. Hilton‐Jones, 1995, Neuromuscular Disorders.

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

J. Burgunder, C. Angelini, G. Siciliano, 2013, European journal of neurology.

The myotonic dystrophies: diagnosis and management

D. Hilton‐Jones, C. Turner, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

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

H. Goebel, P. Bergh, D. Claus, 2009, Neuromuscular Disorders.

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c‐terminal α‐helical segment

J. Nagle, W. Squier, L. Goldfarb, 2003, Muscle & nerve.

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

I. Ferrer, K. Bushby, M. Dalakas, 2009, European Journal of Human Genetics.

Caveolinopathy – New mutations and additional symptoms

M. Roberts, K. Bushby, T. Voit, 2008, Neuromuscular Disorders.

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

J. Flint, S. Knight, L. Kearney, 1998, Journal of medical genetics.

Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

C. Gieger, Annette Lee, P. Gregersen, 2017, Arthritis & rheumatology.

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

C. Broeckhoven, W. Robberecht, J. Vandekerckhove, 2004, Nature Genetics.

Myasthenia gravis

J. Palace, A. Vincent, D. Hilton‐Jones, 2001, The Lancet.

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

M. G. Hanna, J. Holton, M. Hanna, 2010, Neuromuscular Disorders.

HEADACHE AFTER LUMBAR PUNCTURE

D. Hilton‐Jones, 1981, The Lancet.

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

A. Vincent, J. Cossins, B. Morgan, 2012, Archives of neurology.

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

A. Vincent, M. Farrugia, J. Newsom-Davis, 2006, Muscle & nerve.

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

J. G. van Dijk, A. Vincent, J. Verschuuren, 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

K. Bushby, A. Beggs, N. Laing, 2014, Human mutation.

Syncoilin accumulation in two patients with desmin-related myopathy

K. Davies, D. Hilton‐Jones, N. Sullivan, 2003, Neuromuscular Disorders.

M. Main, M. Pane, E. Mercuri, 2011, Neuromuscular Disorders.

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

D. Mechan, G. D. Hildebrand, D. Robinson, 2011, Neuromuscular Disorders.

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

J. Stradling, K. Talbot, D. Hilton‐Jones, 2003, Neuromuscular Disorders.

Longitudinal observational study investigating outcome measures for clinical trials in inclusion body myositis

P. Machado, M. Hanna, Bohao Yao, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018, The Journal of clinical investigation.

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.

Iain G. Johnston, I. Johnston, C. Sue, 2015, Pharmacological research.

Death after ecstasy ingestion: neuropathological findings.

D. Hilton‐Jones, M. Squier, H. Series, 1995, Journal of neurology, neurosurgery, and psychiatry.

The use of rituximab in myasthenia gravis and Lambert–Eaton myasthenic syndrome

M. Farrugia, J. Mcconville, F. Norwood, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

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

K. Fischbeck, C. Shaw, C. Ludlow, 2010, Brain : a journal of neurology.

A swollen calf

D. Hilton‐Jones, S. Khan, S. Rigby, 2005, The Lancet.

Long-term observational study of sporadic inclusion body myositis.

David Hilton-Jones, Bruno Eymard, Waney Squier, 2011, Brain : a journal of neurology.

The Role of Rituximab in the Treatment of Myasthenia Gravis

O. Benveniste, D. Hilton‐Jones, 2010 .

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

B. Tseng, F. Mastaglia, T. Lloyd, 2016, Journal of Neuromuscular Diseases.

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

M. G. Hanna, P. Machado, M. Hanna, 2013, Neuromuscular Disorders.

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

David Hilton-Jones, W. Squier, D. Hilton‐Jones, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

DIAGNOSIS AND TREATMENT OF INFLAMMATORY MUSCLE DISEASES

D. Hilton‐Jones, 2003, Journal of neurology, neurosurgery, and psychiatry.

7 Dystrobrevin deficiency at the sarcolemma of patients with muscular

L. Metzinger, D. Blake, R. Nawrotzki, 1997 .

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

David Hilton-Jones, Janice L Holton, Caroline Sewry, 2014, BMJ Open.

MUSCULAR DYSTROPHY Dystrophin-associated protein complex: clinical implications

D. Hilton‐Jones, M. Squier, 1993, The Lancet.

Caveolinopathy - New mutations and additional symptoms q

K. Bushby, T. Voit, V. Straub, 2008 .

Dystrophin: Gene, Protein and Cell Biology

David Hilton-Jones, D. Hilton‐Jones, 1997 .

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

K. Bushby, F. Muntoni, A. Schapira, 2013, Human mutation.

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

H. Lochmüller, M. Rogers, T. Evangelista, 2017, Muscle & nerve.

Physical training for McArdle disease.

J. Vissing, R. Quinlivan, D. Hilton‐Jones, 2011, The Cochrane database of systematic reviews.

Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII)

A. Buch, J. Vissing, K. Madsen, 2021, JIMD reports.

Diagnostic criteria for inclusion body myositis

D. Hilton‐Jones, S. Brady, 2016, Journal of internal medicine.

Spinal cord, nerve, muscleMyopathies in the adult patient

D. Hilton‐Jones, 2012 .

Myopathies in the adult patient

D. Hilton‐Jones, 2012 .

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

R. Orrell, H. Lochmüller, T. Evangelista, 2016, Journal of Neurology.

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

R. Orrell, A. Atalaia, Hanns Lochmüller, 2017, Journal of Neurology.

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

Jacqueline A Palace, A. Vincent, D. Beeson, 2015, JAMA neurology.

When the patient fails to respond to treatment: myasthenia gravis

D. Hilton‐Jones, David Hilton-Jones, 2007, Practical Neurology.

TIA 1 variant drives myodegeneration in multisystem proteinopathy with SQSTM 1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018 .

Idiopathic inflammatory myopathy

E. Aronica, H. Goebel, J. Holton, 2019, Neurology.

Statin-related myopathies

D. Hilton‐Jones, 2018, Practical Neurology.

An unusual metabolic myopathy: a malate—aspartate shuttle defect

A. E. Gent, D. J. Hayes, G. Radda, 1987, Journal of the Neurological Sciences.

Rare variants in SQSTM 1 and VCP genes and risk of sporadic inclusion body myositis

A. Singleton, D. Hughes, J. Holton, 2016 .

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

C. Cooper, A. de Boer, J. Verschuuren, 2012, Osteoporosis International.

A study of perceived facilitators to physical activity in neurological conditions

H. Dawes, D. Wade, C. Sackley, 2009 .

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

E. Leshinsky‐Silver, B. Udd, P. Plotz, 2015, Journal of the Neurological Sciences.

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

H. Dawes, D. Wade, C. Sackley, 2011, Clinical rehabilitation.

The Association of British Neurologists' myasthenia gravis guidelines

M. Farrugia, M. Leite, D. Hilton‐Jones, 2018, Annals of the New York Academy of Sciences.

Thymus imaging in myasthenia gravis: The relevance in clinical practice

M. Leite, M. Quirke, D. Hilton‐Jones, 2018, Muscle & nerve.

Quantitative EMG of facial muscles in myasthenia patients with MuSK antibodies

David Hilton-Jones, John Newsom-Davis, A. Vincent, 2007, Clinical Neurophysiology.

McArdle’s Disease

D. Hilton‐Jones, 2001, Practical Neurology.

Application of the International Classification of Diseases to Neurology (ICD-NA). 2nd edition. World Health Organization, Geneva, 1997. 574 pages.

D. Hilton‐Jones, 2000, Neuromuscular Disorders.

A protocol to develop clinical guidelines for inclusion‐body myositis

Katherine L. Jones, M. Rose, T. Sejersen, 2016, Muscle & nerve.

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

T. Chalder, J. Weinman, C. Graham, 2014, Clinical rehabilitation.

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

B. Schlotter-Weigel, B. Schoser, Z. Lukacs, 2016, Neurology.

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

A Seller, A H Schapira, S. Tabrizi, 1998, Brain : a journal of neurology.

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

David Hilton-Jones, O. Benveniste, D. Hilton‐Jones, 2010, Neuromuscular Disorders.

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

J. Holton, H. Houlden, R. Barohn, 2015, Neurobiology of Aging.

The clinical DELTA-P score accurately predicts small cell lung cancer in the Lambert-Eaton myasthenic syndrome

A. Vincent, P. Wirtz, J. Verschuuren, 2010 .

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

K. Bushby, H. Lochmüller, C. Windpassinger, 2011, European Journal of Human Genetics.

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

D. Hilton‐Jones, 1997, Current opinion in neurology.

Oxford textbook of neuromuscular disorders

M. Turner, D. Hilton‐Jones, 2014 .

Myotonic dystrophy: practical issues relating to assessment of strength

E. Ferenczi, R. Whittaker, D. Hilton‐Jones, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

An expanded cortical representation for hand movement after peripheral motor denervation

P M Matthews, H Johansen-Berg, P. Matthews, 2002, Journal of neurology, neurosurgery, and psychiatry.

Diagnose Myasthenia Gravis

D. Hilton‐Jones, 2002, Practical Neurology.

Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit

R. Quinlivan, V. Straub, T. Willis, 2013, BMC Musculoskeletal Disorders.

Diagnostic Approach to Pauci-or Asymptomatic hyperCKemia

C. Angelini, G. Siciliano, S. Sacconi, 2011 .

Periodic paralysis, malignant ventricular arrhythmia and dysmorphism (Andersen's syndrome): A skeletal muscle potassium channel disorder

P. Chinnery, M. Hanna, D. Hilton‐Jones, 2002 .

Myopathy associated with statin therapy

D. Hilton‐Jones, 2008, Neuromuscular Disorders.

European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia

C. Angelini, D. Hilton‐Jones, T. Kyriakides, 2020 .

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

A. Singleton, J. Lamb, F. Mastaglia, 2016, Neurobiology of Aging.

Myasthenia gravis and other neuromuscular junction disorders

D. Hilton‐Jones, S. Jacob, D. Lashley, 2009, Practical Neurology.

Negative results The effects of an intronic polymorphism in TOMM 40 and APOE genotypes in sporadic inclusion body myositis

J. Holton, H. Houlden, R. Barohn, 2015 .

Type 2 fiber predominance in lambert–eaton myasthenic syndrome

K. Mills, C. Chalk, J. Newsom-Davis, 1991, Muscle & nerve.

Myasthenia gravis and Lambert-Eaton myasthenic syndrome

J. Palace, D. Hilton‐Jones, 2000 .

The perioperative management of thymectomy in myasthenia gravis: an overview

D. Hilton‐Jones, N. Willcox, S. Jacob, 2007 .

Rapsyn mutations in hereditary myasthenia

J. Palace, A. Vincent, J. Cossins, 2003, Neurology.

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

David Hilton-Jones, C. Angelini, Corrado Angelini, 2019, Muscle and Nerve.

Patient-centred standards of care for adults with myositis

J. Lamb, P. Machado, P. Kiely, 2017, BMC Rheumatology.

Bending over forwards – to make a diagnosis

D. Hilton‐Jones, 2016, European journal of neurology.

The need for biochemical testing in beta‐enolase deficiency in the genomic era

H. Houlden, S. Heales, R. Kirk, 2019, JIMD reports.

Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy

H. Houlden, G. Lennox, D. Hilton‐Jones, 2017, Practical Neurology.

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

D. Robinson, D. Hilton‐Jones, S. Hammans, 2001 .

Idiopathic inflammatory myopathy

E. Aronica, H. Goebel, J. Holton, 2019, Neurology.

Muscle disorders and ventilatory failure

D. Hilton‐Jones, 2010 .

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

J. Cossins, M. Leite, R. Kennett, 2012, Archives of neurology.

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

D. Kullmann, Jacqueline A Palace, D. Beeson, 2010, BMJ : British Medical Journal.

[Pathogenesis of primary inflammatory myopathies].

W. Squier, O. Benveniste, D. Hilton‐Jones, 2004, Presse medicale.

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

J. Holton, C. Sewry, M. Parton, 2010, Neuromuscular disorders : NMD.