M. Parton

发表

Prolonged survival in motor neuron disease: a descriptive study of the King’s database 1990–2002

A. Al-Chalabi, C. Shaw, P. Leigh, 2003, Journal of neurology, neurosurgery, and psychiatry.

R. Howard, M. Reilly, M. Hanna, 2009 .

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

Robert H. Brown, A. Al-Chalabi, C. Shaw, 2003, Annals of neurology.

Frequency and circumstances of falls in people with inclusion body myositis: a questionnaire survey to explore falls management and physiotherapy provision.

P. Machado, L. Dewar, M. Parton, 2014, Physiotherapy.

Amino acids for amyotrophic lateral sclerosis / motor neuron disease.

P. Leigh, P. Leigh, H. Mitsumoto, 2008, The Cochrane database of systematic reviews.

Seizure: acute investigation and management.

M. Parton, H. Devine, 2016, British journal of hospital medicine.

Ongoing Developments in Sporadic Inclusion Body Myositis

L. Greensmith, J. Holton, H. Houlden, 2014, Current Rheumatology Reports.

No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS

J. Powell, A. Al-Chalabi, C. Shaw, 2004, Neurology.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

T. Yousry, Sachit Shah, H. Houlden, 2018, Front. Neurol..

Differential Diagnoses of Inclusion Body Myositis.

P. Machado, M. Hanna, E. Bugiardini, 2020, Neurologic clinics.

Phenotypic diVerences between African and white patients with motor neuron disease: a case-control study

S. Rabe-Hesketh, P. Leigh, B. Tomik, 2000 .

Phenotypic differences between African and white patients with motor neuron disease: a case-control study

S. Rabe-Hesketh, C. Shaw, P. Leigh, 2000, Journal of neurology, neurosurgery, and psychiatry.

Phenotypic di V erences between African and white patients with motor neuron disease: a case-control study

S. Rabe-Hesketh, C. Shaw, P. Leigh, 2000 .

CuZn-Superoxide Dismutase in D90A Heterozygotes from Recessive and Dominant ALS Pedigrees

P. Andersen, W. Robberecht, T. Siddique, 2002, Neurobiology of Disease.

Camptocormia: don’t forget muscle disease in the movement disorder clinic

Nir Giladi, K. Bhatia, A. Lees, 2012, Journal of Neurology.

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.

Detection of reverse transcriptase activity in the serum of patients with motor neurone disease

A. Al-Chalabi, J. Garson, W. Andrews, 2000, Journal of medical virology.

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

I. Parees, F. Gago, H. Houlden, 2019, Human Genetics.

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures

S. Al-Sarraj, J. Holton, H. Houlden, 2016, Journal of neuropathology and experimental neurology.

Neurodegenerative Diseases: An approach to the patient with motor neuron dysfunction

P. Leigh, M. Parton, 2005 .

Motor Neuron Disease and Its Management

P. Leigh, R. Lyall, M. Parton, 1999, Journal of the Royal College of Physicians of London.

Hereditary pure lower motor neuron disease with adult onset and rapid progression

G. Jansen, C. Shaw, L. H. van den Berg, 2001, 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.

Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK

A. Mayhew, M. Farrugia, J. Mcconville, 2022, Frontiers in Neurology.

A case of necrotizing myopathy with proximal weakness and cardiomyopathy

J. Holton, M. Hanna, E. Matthews, 2012, Neurology.

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

T. Maisonobe, O. Dubourg, B. Eymard, 2011, Journal of Neurology.

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.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License Mutations in Gmppb Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders with Dystroglycanopathies

K. Bushby, F. Muntoni, W. Yue, 2022 .

Cerebellar ataxia and epilepsy with anti-GAD antibodies: treatment with IVIG and plasmapheresis

M. Parton, Zoya G. Georgieva, Zoya G Georgieva, 2014, BMJ Case Reports.

Atypical periodic paralysis and myalgia

Jacqueline A Palace, J. Holton, H. Houlden, 2018, Neurology.

Atypical periodic paralysis and myalgia

Jacqueline Palace, Jacqueline A Palace, J. Holton, 2018, Neurology.

D90A‐SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for a Cis‐acting disease modifier in the recessive haplotype

J. Powell, A. Al-Chalabi, C. Shaw, 2002, Human mutation.

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

C. Lewis, F. Baas, J. Powell, 2003, American journal of human genetics.

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

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

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy

K. Bushby, F. Muntoni, Hanns Lochmüller, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

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.

Differential Diagnoses of Inclusion Body Myositis (IBM)

E. Bugiardini, M. Parton, J. Morrow, 2020 .

Targeting protein homeostasis in sporadic inclusion body myositis

B. Kalmar, L. Greensmith, J. Taylor, 2016, Science Translational Medicine.

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

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

Inclusion body myositis: clinical review and current practice

Janice L. Holton, Michael G. Hanna, Stefen Brady, 2014 .

A practical approach to diagnosing adult onset leukodystrophies

Nick C Fox, J. Schott, C. Mummery, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Clinical Trials in ALS: An Overview

M. Turner, P. Leigh, M. Parton, 2001, Seminars in neurology.

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.

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre

J. Holton, H. Houlden, M. Reilly, 2019, Neuromuscular Disorders.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Pier D Lambiase, Henry Houlden, Josemir W Sander, 2015, Brain : a journal of neurology.

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

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

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

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

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

H. Houlden, P. Syrris, B. Küsters, 2022, Journal of the American Heart Association.

Calpainopathy with macrophage-rich, regional inflammatory infiltrates

J. Holton, H. Houlden, M. Parton, 2017, Neuromuscular Disorders.

UvA-DARE ( Digital Academic Repository ) Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome

C. Lewis, F. Baas, J. Powell, 2017 .

Clinical and pathological heterogeneity in late‐onset partial merosin deficiency

J. Holton, M. Hanna, S. Rajakulendran, 2011, 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.

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.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

F. Muntoni, Jacqueline A Palace, J. Holton, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

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 .

Erythropoietin deficiency and anaemia in multiple system atrophy

A. Winkler, J. Marsden, P. Watkins, 2001, Movement disorders : official journal of the Movement Disorder Society.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

F. Muntoni, Jacqueline A Palace, J. Holton, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Cerebellar ataxia and epilepsy with anti-GAD antibodies: treatment with IVIG and plasmapheresis

M. Parton, Zoya G. Georgieva, 2014, BMJ Case Reports.

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

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

Society for Neuroscience Abstracts

P. Andersen, P. Leigh, M. Parton, 2001 .

Antibody-Mediated Muscle Disease?

J. Holton, M. Parton, A. Horga, 2017 .