Richard Webster

Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate

Association Between Thrombectomy and Functional Outcomes in Pediatric Patients With Acute Ischemic Stroke From Large Vessel Occlusion

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

Incidence and Natural History of Pediatric Large Vessel Occlusion Stroke

Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids

Monoallelic and biallelic mutations in<i>RELN</i>underlie a graded series of neurodevelopmental disorders

Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

<i>ALG13</i> X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Predominant and novel de novo variants in 29 individuals with <scp><i>ALG13</i></scp> deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy

Nusinersen for SMA: expanded access programme

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

Influenza-associated Encephalitis/Encephalopathy Identified by the Australian Childhood Encephalitis Study 2013–2015

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

<i>DMD</i> genotypes and loss of ambulation in the CINRG Duchenne Natural History Study

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Infectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term Outcome

Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy