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Failure of early diagnosis in symptomatic Duchenne muscular dystrophy

The Lancet (British edition), 1999-02, Vol.353 (9152), p.557-558

1999

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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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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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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

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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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Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutation

Annals of neurology, 2003-12, Vol.54 (6), p.748-759

2003

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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

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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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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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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

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Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Human molecular genetics, 1999-05, Vol.8 (5), p.871-877

1999

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Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

Neuromuscular disorders : NMD, 1995-01, Vol.5 (1), p.71-74

Bushby, K M

1995

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Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy 2B

Nature genetics, 1999-10, Vol.23 (2), p.141-142

1999

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S.P.5 Trial readiness: Clinical interpretability of change scores of the North Star Ambulatory Assessment in Duchenne muscular dystropy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.876-877

2012

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Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

Journal of medical genetics, 2000-10, Vol.37 (10), p.759-765

2000

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COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

Annals of neurology, 2006-01, Vol.59 (1), p.190-195

2006

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Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation

Neurology, 2000-07, Vol.55 (1), p.89-94

2000

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The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

Neuromuscular disorders : NMD, 2001-04, Vol.11 (3), p.287-296

2001

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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Neuromuscular disorders : NMD, 2000-12, Vol.10 (8), p.553-559

2000

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M.P.1.06 An international registry for FKRP (fukutin-related protein) patients-the first international registry

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.547-548

2009

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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

Human molecular genetics, 1994-03, Vol.3 (3), p.455-457

1994

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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

Neuromuscular disorders : NMD, 2005-12, Vol.15 (12), p.863-877

2005

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Investigation of mitochondrial function in hereditary spastic paraparesis

Neuroreport, 2003-03, Vol.14 (3), p.485-488

2003

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Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

Neuromuscular disorders : NMD, 2005-10, Vol.15 (9), p.595-600

2005

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Dysferlin and muscular dystrophy

Acta neurologica Belgica, 2000-09, Vol.100 (3), p.142-145

Bushby, K M

2000

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Failure of early diagnosis in symptomatic Duchenne muscular dystrophy

Collagen VI related muscle disorders

Limb-girdle muscular dystrophies - from genetics to molecular pathology

Making sense of the limb-girdle muscular dystrophies

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

Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutation

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

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

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

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

Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy 2B

S.P.5 Trial readiness: Clinical interpretability of change scores of the North Star Ambulatory Assessment in Duchenne muscular dystropy

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

M.P.1.06 An international registry for FKRP (fukutin-related protein) patients-the first international registry

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

Investigation of mitochondrial function in hereditary spastic paraparesis

Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

Dysferlin and muscular dystrophy

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