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Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

Brain (London, England : 1878), 2009-11, Vol.132 (11), p.3175-3186

2009

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

Journal of neurology, 2016-07, Vol.263 (7), p.1401-1408

2016

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An Atomic Model for Actin Binding by the CH Domains and Spectrin-repeat Modules of Utrophin and Dystrophin

Journal of molecular biology, 2003-05, Vol.329 (1), p.15-33

2003

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Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation

Pathology oncology research, 2014, Vol.20 (1), p.215-220

2014

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The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy

Structure (London), 2000-05, Vol.8 (5), p.481-491

2000

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Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer

Structure (London), 1999-12, Vol.7 (12), p.1539-1546

1999

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179th ENMC international workshop: pregnancy in women with neuromuscular disorders 5-7 November 2010, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2012-02, Vol.22 (2), p.183-190

2012

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The economic cost of brain disorders in Europe

European journal of neurology, 2012-01, Vol.19 (1), p.155-162

2012

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

Journal of neurology, neurosurgery and psychiatry, 2014-05, Vol.85 (5), p.538-543

2014

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

Journal of neurology, neurosurgery and psychiatry, 2011-06, Vol.82 (6), p.671-673

2011

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Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

Journal of neurology, neurosurgery and psychiatry, 2016-04, Vol.87 (4), p.448-450

2016

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The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

Brain (London, England : 1878), 2023-10, Vol.146 (10), p.4233-4246

2023

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‘Minimal symptom expression’ in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab

Journal of neurology, 2020-07, Vol.267 (7), p.1991-2001

2020

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

Muscle & nerve, 2018-03, Vol.57 (3), p.380-387

2018

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Hereditary myopathy with early respiratory failure: occurrence in various populations

Journal of neurology, neurosurgery and psychiatry, 2014-03, Vol.85 (3), p.345-353

2014

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179th ENMC international workshop: Pregnancy in women with neuromuscular disorders

Neuromuscular disorders : NMD, 2012-02, Vol.22 (2), p.183-190

2012

Volltextzugriff (PDF)

Extending the clinical and mutational spectrum of TRIM32 -related myopathies in a non-Hutterite population

Journal of neurology, neurosurgery and psychiatry, 2019-04, Vol.90 (4), p.490

2019

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Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy

Neurology, 2015-02, Vol.84 (5), p.523

2015

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

Journal of neurology, neurosurgery and psychiatry, 2018-07, Vol.89 (7), p.762

2018

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Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Journal of neurology, neurosurgery and psychiatry, 2013-10, Vol.84 (10), p.1119-1125

2013

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Chloride channels in myotonia congenita assessed by velocity recovery cycles

Muscle & nerve, 2014-06, Vol.49 (6), p.845-857

2014

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Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study

Journal of the neurological sciences, 2019-12, Vol.407, p.116419-116419, Article 116419

2019

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Two recurrent mutations are associated with GNE myopathy in the North of Britain

Journal of neurology, neurosurgery and psychiatry, 2014-12, Vol.85 (12), p.1359-1365

2014

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Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

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

An Atomic Model for Actin Binding by the CH Domains and Spectrin-repeat Modules of Utrophin and Dystrophin

Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation

The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy

Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer

179th ENMC international workshop: pregnancy in women with neuromuscular disorders 5-7 November 2010, Naarden, The Netherlands

The economic cost of brain disorders in Europe

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

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

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

‘Minimal symptom expression’ in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab

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

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

Hereditary myopathy with early respiratory failure: occurrence in various populations

179th ENMC international workshop: Pregnancy in women with neuromuscular disorders

Extending the clinical and mutational spectrum of TRIM32 -related myopathies in a non-Hutterite population

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy

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

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Chloride channels in myotonia congenita assessed by velocity recovery cycles

Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study

Two recurrent mutations are associated with GNE myopathy in the North of Britain

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