M. Roberts

发表

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies

K. Bushby, F. Muntoni, U. Jensen, 2012, Human mutation.

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

M. Roberts, B. Engelen, F. Muntoni, 2013, Neuromuscular Disorders.

English version of the self-administered Fabry Pain Questionnaire for adult patients

P. Heuschmann, C. Sommer, N. Üçeyler, 2020, Orphanet Journal of Rare Diseases.

The performance of the European League Against Rheumatism/American College of Rheumatology idiopathic inflammatory myopathies classification criteria in an expert-defined 10 year incident cohort

A. Herrick, R. Cooper, N. McHugh, 2018, Rheumatology.

Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy.

Hanns Lochmüller, T. Evangelista, P. Pal, 2017, Rheumatology.

Metabolic myopathies: a practical approach

F. Roncaroli, Reena Sharma, M. Roberts, 2017, Practical Neurology.

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

C. Hendriksz, F. Roncaroli, I. Hargreaves, 2020, Journal of clinical medicine.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

A. Seller, P. Chinnery, R. Horvath, 2010, Neurology.

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.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

M. Roberts, C. Angelini, R. Lachmann, 2017, European journal of neurology.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

M. Tarnopolsky, Y. Chien, J. Charrow, 2021, The Lancet Neurology.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

K. Bushby, Hanns Lochmüller, A. Ferlini, 2017, Neuromuscular Disorders.

Increasing incidence of adult idiopathic inflammatory myopathies in the City of Salford, UK: a 10-year epidemiological study

W. Ollier, R. Cooper, H. Chinoy, 2018, Rheumatology advances in practice.

OP-RAPC180035 1..7

W. Ollier, R. Cooper, H. Chinoy, 2018 .

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

M. Polkey, H. Tiddens, D. Orlikowski, 2017, Orphanet Journal of Rare Diseases.

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

M. Roberts, F. Muntoni, R. Horvath, 2012, Journal of Neurology.

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

B. Byrne, A. Pestronk, M. Tarnopolsky, 2021, The Lancet Neurology.

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

B. Byrne, D. Stockton, M. Boentert, 2020, Journal of Neurology.

Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease

K. Berger, T. Mozaffar, A. Quartel, 2016, Neuromuscular Disorders.

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Robert W. Taylor, D. Turnbull, P. Chinnery, 2015, JAMA neurology.

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

B. Byrne, R. Barohn, P. Laforêt, 2017, Orphanet Journal of Rare Diseases.

IMPLICATIONS OF ANTI-CN1A SEROTYPE IN INCLUSION BODY MYOSITIS

J. Lamb, B. V. van Engelen, S. Pye, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

M. Ashworth, A. King, R. Sofat, 2020, Journal of inherited metabolic disease.

[18F]Florbetapir positron emission tomography: identification of muscle amyloid in inclusion body myositis and differentiation from polymyositis

K. Herholz, R. Hinz, R. Hodgson, 2019, Annals of the rheumatic diseases.

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.

C. Hendriksz, Reena Sharma, K. Stepien, 2016, Molecular genetics and metabolism.

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

D. Lockhart, B. Byrne, J. Flanagan, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

A National Pilot Study to Investigate the Effects of Sub-Maximal Aerobic Exercise in Adults with Late-Onset Pompe Disease.

R. Lachmann, E. Murphy, M. Roberts, 2015, Journal of neuromuscular diseases.

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

N. Wood, S. Efthymiou, H. Houlden, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

D. Turnbull, P. Chinnery, G. Hudson, 2008, Journal of Medical Genetics.

Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study

Robert W. Taylor, D. Turnbull, M. Martikainen, 2019, Annals of neurology.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Robert W. Taylor, D. Turnbull, U. Pohl, 2012, Brain : a journal of neurology.

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

Robert W. Taylor, D. Turnbull, K. J. Krishnan, 2013, Neurology.

New aspects on patients affected by dysferlin deficient muscular dystrophy

K. Bushby, Hanns Lochmüller, V. Straub, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

K. Bushby, C. Bönnemann, Hanns Lochmüller, 2014, Human molecular 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.

The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease

Robert W. Taylor, D. Turnbull, C. Alston, 2013, Journal of the Neurological Sciences.

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

R. Rodenburg, G. Bassez, B. V. van Engelen, 2020, Brain : a journal of neurology.

Adults with RRM 2 B-related mitochondrial disease have distinct clinical and molecular characteristics

Robert W. Taylor, D. Turnbull, U. Pohl, 2012 .

Disease specificity of autoantibodies to cytosolic 5′-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases

J. Lamb, M. Verbeek, L. Pleštilová, 2015, Annals of the rheumatic diseases.

Forecasting stroke-like episodes and outcomes in mitochondrial disease

Robert W. Taylor, D. Erskine, N. Lax, 2021, Brain : a journal of neurology.

Autoimmune fasciitis triggered by the anti-programmed cell death-1 monoclonal antibody nivolumab

P. Lorigan, D. du Plessis, H. Chinoy, 2018, BMJ Case Reports.

Caveolinopathy - New mutations and additional symptoms q

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

McArdle disease: a clinical review

M. Rose, C. Bruno, J. Vissing, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

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.

Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination

Robert W. Taylor, D. Turnbull, Y. Yiannakou, 2016, Annals of neurology.

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

Robert W. Taylor, A. Schaefer, G. Falkous, 2020, Frontiers in Genetics.

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

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

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

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

Cardiac involvement in inflammatory myopathies and inherited muscle diseases

M. Roberts, J. Lilleker, L. Diederichsen, 2020, Current opinion in rheumatology.

Enzyme replacement therapy for late‐onset Pompe disease

A. Krishan, C. Hendriksz, U. Ramaswami, 2018 .

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.

S. Prasad, A. T. van der Ploeg, L. Merlini, 2011, Molecular genetics and metabolism.

The role of noninvasive ventilation in the management of type II respiratory failure in patients with myotonic dystrophy

T. Felton, V. Rautemaa, A. Bentley, 2021, ERJ Open Research.

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

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

Using serum troponins to screen for cardiac involvement and assess disease activity in the idiopathic inflammatory myopathies

J. Sergeant, R. Cooper, A. Diederichsen, 2018, Rheumatology.

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management.

C. Hendriksz, K. Stepien, M. Roberts, 2015, Developmental period medicine.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

P. Bergh, R. Lachmann, P. Laforêt, 2019, Neuromuscular Diseases.

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks

Y. Chien, B. Schoser, S. Illarioshkin, 2023, JAMA neurology.

Rituximab-induced neutropenia in a patient with inflammatory myopathy and systemic sclerosis overlap disease

C. Oddis, H. Chinoy, M. Roberts, 2016, Reumatologia.

Essentials in rheumatology: disease managementI34. Metabolic bone diseases

R. Horne, Paul Wordsworth, C. Cooper, 2012 .

Clinical Reasoning: Blurred vision and dancing feet

D. Turnbull, G. Gorman, D. Turnbull, 2009, 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.

Patient-centred standards of care for adults with myositis

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

Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients

Y. Chien, B. Schoser, S. Illarioshkin, 2021 .

Metabolic myopathies: a practical approach.

F. Roncaroli, Reena Sharma, M. Roberts, 2018, Practical neurology.

Are there common walking gait characteristics in patients diagnosed with late-onset Pompe disease?

C. Hendriksz, C. Starbuck, M. Roberts, 2021, Human movement science.

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

R. Orrell, Hanns Lochmüller, T. Evangelista, 2014, Orphanet Journal of Rare Diseases.