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Collagen type VI myopathies

Advances in experimental medicine and biology, 2014, Vol.802, p.185

2014

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Severe phenotype in infantile facioscapulohumeral muscular dystrophy

Neuromuscular disorders : NMD, 2006-10, Vol.16 (9), p.553-558

2006

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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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The m.5650G > A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

Neuromuscular disorders : NMD, 2008-01, Vol.18 (1), p.63-67

2008

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A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

Annals of neurology, 2001-04, Vol.49 (4), p.443-452

2001

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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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Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy

Physical medicine and rehabilitation clinics of North America, 2012-11, Vol.23 (4), p.821-828

2012

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One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development

Pediatric neurology, 2014-06, Vol.50 (6), p.557-563

2014

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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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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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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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Dystrophin expression in Duchenne patients with "in-frame" gene deletions

Neuropediatrics, 1993-04, Vol.24 (2), p.93-97

1993

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The m.5650G > A mitochondrial tRNA Ala mutation is pathogenic and causes a phenotype of pure myopathy

Neuromuscular disorders : NMD, 2008, Vol.18 (1), p.63-67

2008

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Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)

Amyotrophic lateral sclerosis, 2003-06, Vol.4 (2), p.96-99

2003

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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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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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Corticosteroids in Duchenne muscular dystrophy: Major variations in practice

Muscle & nerve, 2013-07, Vol.48 (1), p.27-31

2013

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Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results From the UK NorthStar Database

JAMA neurology, 2019-06, Vol.76 (6), p.701

2019

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Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

PloS one, 2013-08, Vol.8 (8), p.e70993-e70993

2013

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The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

Orphanet journal of rare diseases, 2015-04, Vol.10 (1), p.49, Article 49

2015

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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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Collagen type VI myopathies

Severe phenotype in infantile facioscapulohumeral muscular dystrophy

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

The m.5650G > A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy

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

Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy

One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development

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

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

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

Dystrophin expression in Duchenne patients with "in-frame" gene deletions

The m.5650G > A mitochondrial tRNA Ala mutation is pathogenic and causes a phenotype of pure myopathy

Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

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

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

Corticosteroids in Duchenne muscular dystrophy: Major variations in practice

Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results From the UK NorthStar Database

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

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

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