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
Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities.
Granato V et al.
Biomolecules, 2024
Mice Mutated in the Third Fibronectin Domain of L1 Show Enhanced Hippocampal Neuronal Cell Death, Astrogliosis and Alterations in Behavior.
Congiu L et al.
Biomolecules, 2023
Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics.
Loers G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis.
Sato MS et al.
Psychiatric Genetics, 2020
L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
Christaller WA et al.
Clinical Genetics, 2017
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H et al.
Molecular Psychiatry, 2016
25644381 (PubMed )
Supplement: mp2014193x1.pdf
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.
Shaw M et al.
European Journal of Medical Genetics, 0
Select a paper to view details