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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Neuromuscular disorders : NMD, 2013-03, Vol.23 (3), p.195-205

2013

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.540-548

2013

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Muscle histology vs MRI in Duchenne muscular dystrophy

Neurology, 2011-01, Vol.76 (4), p.346-353

2011

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The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy

European journal of paediatric neurology, 2015-07, Vol.19 (4), p.395-401

2015

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Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

Journal of neuroimmunology, 2008-09, Vol.201, p.6-12

2008

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Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

Neuromuscular disorders : NMD, 2012-06, Vol.22 (6), p.522-527

2012

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Clinical spectrum, treatment and outcome of children with chronic inflammatory demyelinating polyneuropathy

European journal of paediatric neurology, 2017-06, Vol.21, p.e232-e232

2017

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Predictive factors for the development of scoliosis in Duchenne muscular dystrophy

European journal of paediatric neurology, 2007-05, Vol.11 (3), p.160-166

2007

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Interfamilial phenotypic heterogeneity in SMARD1

Neuromuscular disorders : NMD, 2009-03, Vol.19 (3), p.193-195

2009

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Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

American Journal of Neuroradiology, 2007-08, Vol.28 (7), p.1223-1231

2007

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P.2.1 The NorthStar Ambulatory Assessment in Duchenne Muscular Dystrophy: Considerations for the design of clinical trials

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.748-748

2013

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P4.5 Benefits and adverse effects of glucocorticoids in boys with Duchenne Muscular Dystrophy

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.705-706

2011

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P81 Benefits and adverse effects of glucocorticoids in boys with Duchenne muscular dystrophy: a UK perspective

Neuromuscular disorders : NMD, 2011, Vol.21, p.S30-S30

2011

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P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.758-758

2013

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A.P.11

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.833-834

2014

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P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.772-772

2013

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A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

Neuromuscular disorders : NMD, 2007-02, Vol.17 (2), p.174-179

2007

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Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

Neuromuscular disorders : NMD, 2004-10, Vol.14 (10), p.689-693

2004

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

Annals of neurology, 2010-11, Vol.68 (5), p.717-726

2010

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T.P.5.08 Vertebral fractures in corticosteroid-treated boys with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.825-826

2008

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Update on the management of Duchenne muscular dystrophy

Archives of disease in childhood, 2008-11, Vol.93 (11), p.986-990

2008

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P11 UK NorthStar Neuromuscular Clinical Network (NSCN): National audit results in Duchenne muscular dystrophy (DMD) corticosteroid practice, vitamin D status and bone health

Neuromuscular disorders : NMD, 2010, Vol.20, p.S8-S8

2010

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P67 SEPN1 related myopathies: Clinical course in a large cohort of patients

Neuromuscular disorders : NMD, 2011, Vol.21, p.S26-S26

2011

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PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

Molecular genetics and metabolism, 2014-06, Vol.112 (2), p.183-189

2014

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G.P.1.01 Redefining the clinical spectrum of collagen VI disorders

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.730-731

2008

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Muscle histology vs MRI in Duchenne muscular dystrophy

The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy

Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

Clinical spectrum, treatment and outcome of children with chronic inflammatory demyelinating polyneuropathy

Predictive factors for the development of scoliosis in Duchenne muscular dystrophy

Interfamilial phenotypic heterogeneity in SMARD1

Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging

P.2.1 The NorthStar Ambulatory Assessment in Duchenne Muscular Dystrophy: Considerations for the design of clinical trials

P4.5 Benefits and adverse effects of glucocorticoids in boys with Duchenne Muscular Dystrophy

P81 Benefits and adverse effects of glucocorticoids in boys with Duchenne muscular dystrophy: a UK perspective

P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing

A.P.11

P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

RYR1 mutations are a common cause of congenital myopathies with central nuclei

T.P.5.08 Vertebral fractures in corticosteroid-treated boys with Duchenne muscular dystrophy

Update on the management of Duchenne muscular dystrophy

P11 UK NorthStar Neuromuscular Clinical Network (NSCN): National audit results in Duchenne muscular dystrophy (DMD) corticosteroid practice, vitamin D status and bone health

P67 SEPN1 related myopathies: Clinical course in a large cohort of patients

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

G.P.1.01 Redefining the clinical spectrum of collagen VI disorders

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