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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Nature genetics, 2014-02, Vol.46 (2), p.188-193

2014

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Neurological Manifestations of Influenza Infection in Children and Adults: Results of a National British Surveillance Study

Clinical infectious diseases, 2014-03, Vol.58 (6), p.775-784

2014

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Variations in the management of children with cerebral venous sinus thrombosis in the UK and Ireland

Developmental medicine and child neurology, 2012-08, Vol.54 (8), p.770-771

2012

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Cogan's Syndrome: A Rare Cause of Meningoencephalitis

Journal of child neurology, 2009-06, Vol.24 (6), p.753-757

2009

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Stroke and cerebrovascular disease in childhood (International Review of Child Neurology Series)

European Journal of Paediatric Neurology, 2011-09, Vol.15 (5), p.461-461

Pysden, Karen

2011

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Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Journal of clinical sleep medicine, 2017-11, Vol.13 (11), p.1359-1362

2017

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Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study

The lancet child & adolescent health, 2021-09, Vol.5 (9), p.631-641

2021

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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

Neuromuscular disorders : NMD, 2021-04, Vol.31 (4), p.359-366

2021

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Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Lancet neurology, 2023-10, Vol.22 (10), p.890-899

2023

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Spontaneous Dissecting Lenticulostriate Artery Aneurysm in Children: Radiologic Findings and Clinical Management

Journal of child neurology, 2015-07, Vol.30 (8), p.1060-1064

2015

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Experience of mechanical thrombectomy for paediatric arterial ischaemic stroke

European journal of paediatric neurology, 2014-11, Vol.18 (6), p.730-735

2014

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Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

American journal of human genetics, 2016-04, Vol.98 (4), p.735-743

2016

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The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status

Developmental medicine and child neurology, 2016-08, Vol.58 (8), p.877-883

2016

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Parental and physician beliefs regarding the provision and content of written sudden unexpected death in epilepsy (SUDEP) information

Epilepsia (Copenhagen), 2010-05, Vol.51 (5), p.777-782

2010

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A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

Journal of clinical immunology, 2019-04, Vol.39 (3), p.249-256

2019

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Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Neurology. Genetics, 2016-04, Vol.2 (2), p.e59-e59

2016

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Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial

JAMA network open, 2022-01, Vol.5 (1), p.e2144178-e2144178

2022

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RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss—Another Mendelian Mimicker of Congenital Cytomegalovirus Infection

Pediatric neurology, 2017-01, Vol.66, p.59-62

2017

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Presumed perinatal stroke in a child with Down syndrome and moyamoya disease

Developmental medicine and child neurology, 2010-02, Vol.52 (2), p.212-214

2010

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Intracranial calcification in early infantile Krabbe disease: nothing new under the sun

Developmental medicine and child neurology, 2012-04, Vol.54 (4), p.376-379

2012

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NEUROLOGICAL MANIFESTATIONS OF INFLUENZA INFECTION IN ADULTS AND CHILDREN: RESULTS OF A NATIONAL BRITISH SURVEILLANCE STUDY

Journal of neurology, neurosurgery and psychiatry, 2013-11, Vol.84 (11), p.e2-e2

2013

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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Neurological Manifestations of Influenza Infection in Children and Adults: Results of a National British Surveillance Study

Variations in the management of children with cerebral venous sinus thrombosis in the UK and Ireland

Cogan's Syndrome: A Rare Cause of Meningoencephalitis

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Stroke and cerebrovascular disease in childhood (International Review of Child Neurology Series)

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia

Spontaneous Dissecting Lenticulostriate Artery Aneurysm in Children: Radiologic Findings and Clinical Management

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Experience of mechanical thrombectomy for paediatric arterial ischaemic stroke

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status

Parental and physician beliefs regarding the provision and content of written sudden unexpected death in epilepsy (SUDEP) information

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss—Another Mendelian Mimicker of Congenital Cytomegalovirus Infection

Presumed perinatal stroke in a child with Down syndrome and moyamoya disease

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun

NEUROLOGICAL MANIFESTATIONS OF INFLUENZA INFECTION IN ADULTS AND CHILDREN: RESULTS OF A NATIONAL BRITISH SURVEILLANCE STUDY

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