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
L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice.
Yang W et al.
Gene, 2023
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant.
Gauntner TD et al.
Clinical Case Reports, 2021
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
Fernández RM et al.
American Journal of Medical Genetics. Part A, 2012
Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2012
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
Griseri P et al.
European Journal of Human Genetics : Ejhg, 2009
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