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The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

Journal of neurology, 2019-04, Vol.266 (4), p.876-887

2019

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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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Bladder involvement in presentation of mitofusin-2 (MFN-2) associated sensory-motor axonal neuropathy

European journal of paediatric neurology, 2017-06, Vol.21, p.e237-e237

2017

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Non-polio enterovirus (NPEV) and human parechovirus (HPeV) – Associated acute flaccid paralysis/myelitis (AFP) in early childhood

European journal of paediatric neurology, 2017-06, Vol.21, p.e91-e91

2017

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Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomy

Neuromuscular disorders : NMD, 2014-01, Vol.24 (1), p.25-30

2014

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A proposed classification for subtypes of arterial ischaemic stroke in children

Developmental medicine and child neurology, 2005-04, Vol.47 (4), p.252-256

2005

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Surgery for scoliosis in Duchenne muscular dystrophy

Cochrane database of systematic reviews, 2007-01 (1), p.CD005375

2007

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Homozygous variegate porphyria presenting with developmental and language delay in childhood

Clinical and experimental dermatology, 2013-10, Vol.38 (7), p.737-740

2013

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A novel bleeding disorder associated with RYR1 mutations

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S89-S90

2016

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Optic and/or auditory neuronopathy may be the first presentation of Brown-Vialetto-Van Laere syndrome

European journal of paediatric neurology, 2017-06, Vol.21, p.e205-e205

2017

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Effects of temperature on polyunsaturation in cytostatic lipids of Haslea ostrearia

Phytochemistry (Oxford), 2001-03, Vol.56 (6), p.597-602

2001

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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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Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children

Neuropediatrics, 2009-04, Vol.40 (2), p.85-88

2009

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The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

Journal of neurology, neurosurgery and psychiatry, 2016-02, Vol.87 (2), p.149-155

2016

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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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Investigation of daytime wetting: when is spinal cord imaging indicated?

Archives of disease in childhood, 2002-08, Vol.87 (2), p.151-155

2002

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O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.748-748

2011

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G.P.10.04 PLEC1-related epidermolysis bullosa simplex-muscular dystrophy (EBS-MD) with early onset and associated myasthenic symptoms

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.621-621

2009

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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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EP.116Genetic neuropathies presenting with CIDP-like features in childhood – 3 novel cases and review of the literature

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S201-S202

2019

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Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

PloS one, 2019-09, Vol.14 (9), p.e0221097-e0221097

2019

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Ischaemic stroke subtypes in children and adults

Developmental medicine and child neurology, 2003-04, Vol.45 (4), p.229-232

2003

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P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.694-694

2011

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G.P.1.12 Hereditary Motor Sensory Neuropathy Type 1A (HMSN1A) with superadded inflammatory polyneuropathy in two children

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.734-734

2008

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EP.24Recessive mutations in CAV3 - a new differential diagnosis of early-onset neuromuscular disorders

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S77-S77

2019

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The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

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

Bladder involvement in presentation of mitofusin-2 (MFN-2) associated sensory-motor axonal neuropathy

Non-polio enterovirus (NPEV) and human parechovirus (HPeV) – Associated acute flaccid paralysis/myelitis (AFP) in early childhood

Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomy

A proposed classification for subtypes of arterial ischaemic stroke in children

Surgery for scoliosis in Duchenne muscular dystrophy

Homozygous variegate porphyria presenting with developmental and language delay in childhood

A novel bleeding disorder associated with RYR1 mutations

Optic and/or auditory neuronopathy may be the first presentation of Brown-Vialetto-Van Laere syndrome

Effects of temperature on polyunsaturation in cytostatic lipids of Haslea ostrearia

Interfamilial phenotypic heterogeneity in SMARD1

Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

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

Investigation of daytime wetting: when is spinal cord imaging indicated?

O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis

G.P.10.04 PLEC1-related epidermolysis bullosa simplex-muscular dystrophy (EBS-MD) with early onset and associated myasthenic symptoms

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

EP.116Genetic neuropathies presenting with CIDP-like features in childhood – 3 novel cases and review of the literature

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

Ischaemic stroke subtypes in children and adults

P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

G.P.1.12 Hereditary Motor Sensory Neuropathy Type 1A (HMSN1A) with superadded inflammatory polyneuropathy in two children

EP.24Recessive mutations in CAV3 - a new differential diagnosis of early-onset neuromuscular disorders

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