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Collagen VI related muscle disorders

Journal of Medical Genetics, 2005-09, Vol.42 (9), p.673-685

2005

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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Lancet neurology, 2010, Vol.9 (1), p.77-93

2010

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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.171-182

2011

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Cardiorespiratory management in neuromuscular disease

Journal of the neurological sciences, 2015-10, Vol.357, p.e473-e474

2015

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Why are some patients with Duchenne muscular dystrophy dying young: an analysis of causes of death in North East England

European journal of paediatric neurology, 2016-11, Vol.20 (6), p.904-909

2016

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Muscle histology vs MRI in Duchenne muscular dystrophy

Neurology, 2011-01, Vol.76 (4), p.346

2011

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Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 2013-06, Vol.84 (6), p.698-705

2013

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

Human molecular genetics, 2014-05, Vol.23 (9), p.2353-2363

2014

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Limb-girdle muscular dystrophies - from genetics to molecular pathology

Neuropathology and applied neurobiology, 2004-04, Vol.30 (2), p.91-105

2004

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Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2–4 April 2004, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2004-09, Vol.14 (8), p.526-534

2004

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

Journal of neurology, neurosurgery and psychiatry, 2016-06, Vol.87 (6), p.680-681

2016

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107th ENMC International Workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands

Neuromuscular disorders : NMD, 2003-02, Vol.13 (2), p.166-172

2003

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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Human mutation, 2008-06, Vol.29 (6), p.809-822

2008

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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Journal of medical genetics, 2005-02, Vol.42 (2), p.108-120

2005

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New aspects on patients affected by dysferlin deficient muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 2010-09, Vol.81 (9), p.946-953

2010

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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

Brain (London, England : 1878), 2009-01, Vol.132 (1), p.147-155

2009

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Adult Duchenne population: A growing population

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S126-S126

2016

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The phenotype of limb-girdle muscular dystrophy type 2I

Neurology, 2003-04, Vol.60 (8), p.1246

2003

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EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

European journal of neurology, 2007-12, Vol.14 (12), p.1305-1312

2007

Volltextzugriff (PDF)

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

Human molecular genetics, 1999-05, Vol.8 (5), p.855-861

1999

Volltextzugriff (PDF)

170th ENMC International Workshop: Bone protection for corticosteroid treated Duchenne muscular dystrophy. 27–29 November 2009, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2010-11, Vol.20 (11), p.761-769

2010

Volltextzugriff (PDF)

The Limb-Girdle Muscular Dystrophies—Multiple Genes, Multiple Mechanisms

Human molecular genetics, 1999-01, Vol.8 (10), p.1875-1882

BUSHBY, K. M. D

1999

Volltextzugriff (PDF)

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients

Neurology, 2011-01, Vol.76 (3), p.227

2011

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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2024-2036

2007

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Making sense of the limb-girdle muscular dystrophies

Brain (London, England : 1878), 1999-08, Vol.122 (8), p.1403-1420

BUSHBY, K. M. D

1999

Volltextzugriff (PDF)

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Collagen VI related muscle disorders

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Cardiorespiratory management in neuromuscular disease

Why are some patients with Duchenne muscular dystrophy dying young: an analysis of causes of death in North East England

Muscle histology vs MRI in Duchenne muscular dystrophy

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

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

Limb-girdle muscular dystrophies - from genetics to molecular pathology

Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2–4 April 2004, Naarden, The Netherlands

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

107th ENMC International Workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

New aspects on patients affected by dysferlin deficient muscular dystrophy

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

Adult Duchenne population: A growing population

The phenotype of limb-girdle muscular dystrophy type 2I

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

170th ENMC International Workshop: Bone protection for corticosteroid treated Duchenne muscular dystrophy. 27–29 November 2009, Naarden, The Netherlands

The Limb-Girdle Muscular Dystrophies—Multiple Genes, Multiple Mechanisms

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Making sense of the limb-girdle muscular dystrophies

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