Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.
Mustafa HJ et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Adle-Biassette H et al.
Acta Neuropathologica, 2013
Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
Bertolin C et al.
Journal of the Neurological Sciences, 2010
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Saugier-Veber P et al.
Human Mutation, 1998
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