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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Brain (London, England : 1878), 2010-07, Vol.133 (7), p.2148-2159

2010

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Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy

PloS one, 2016-04, Vol.11 (4), p.e0152840

2016

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A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

Muscle & nerve, 2018-04, Vol.57 (4), p.550-560

2018

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Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

Neuromuscular disorders : NMD, 2021-01, Vol.31 (1), p.21-28

2021

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242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019

Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.254-264

2020

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The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy

Developmental medicine and child neurology, 2013-02, Vol.55 (2), p.154-161

2013

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Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

Molecular genetics and metabolism, 2010-06, Vol.100 (2), p.207-212

2010

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X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination

Pediatrics (Evanston), 2020-09, Vol.146 (3), p.1

2020

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British Thoracic Society guideline for respiratory management of children with neuromuscular weakness

Thorax, 2012-07, Vol.67 (Suppl 1), p.i1-i40

2012

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Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

The Lancet (British edition), 2017-09, Vol.390 (10101), p.1489-1498

2017

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Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study

Neurology, 2018-10, Vol.91 (14), p.e1312

2018

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The SANAD II study of the effectiveness and cost-effectiveness of valproate versus levetiracetam for newly diagnosed generalised and unclassifiable epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

The Lancet (British edition), 2021-04, Vol.397 (10282), p.1375-1386

2021

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The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

The Lancet (British edition), 2021-04, Vol.397 (10282), p.1363-1374

2021

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Promoting supported self-management for breast cancer survivors

European journal of surgical oncology, 2017-05, Vol.43 (5), p.S35-S35

2017

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Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

Developmental medicine and child neurology, 2020-03, Vol.62 (3), p.310-314

2020

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24. What’s best? Team-approach breast care nursing versus 1-1 breast care nursing – you decide

European journal of surgical oncology, 2019-05, Vol.45 (5), p.883-883

2019

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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

JAMA : the journal of the American Medical Association, 2022-04, Vol.327 (15), p.1456

2022

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Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

Archives of disease in childhood, 2020-04, Vol.105 (4), p.332

2020

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Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Human mutation, 2017-08, Vol.38 (8), p.970-977

2017

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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Brain (London, England : 1878), 2014-01, Vol.137 (Pt 1), p.44-56

2014

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Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement

PloS one, 2022-12, Vol.17 (12), p.e0278996-e0278996

2022

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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy

A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019

The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination

British Thoracic Society guideline for respiratory management of children with neuromuscular weakness

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study

The SANAD II study of the effectiveness and cost-effectiveness of valproate versus levetiracetam for newly diagnosed generalised and unclassifiable epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

Promoting supported self-management for breast cancer survivors

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

24. What’s best? Team-approach breast care nursing versus 1-1 breast care nursing – you decide

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

The Phenotypic Continuum of ATP1A3 -Related Disorders

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement

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