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
L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.
Wang P et al.
Reproductive Sciences (thousand Oaks, Calif.), 2022
The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.
Hortsch M et al.
Advances in Neurobiology, 2014
CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules?
Zhang L
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2010
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.
Michelson P et al.
Human Mutation, 2002
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U et al.
American Journal of Medical Genetics, 2000
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
Numakura C et al.
Annals of Neurology, 2000
Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
De Angelis E et al.
The Embo Journal, 1999
Identification of a homophilic binding site in immunoglobulin-like domain 2 of the cell adhesion molecule L1.
Zhao X et al.
Journal of Neurochemistry, 1998
Genotype-phenotype correlation in L1 associated diseases.
Fransen E et al.
Journal of Medical Genetics, 1998
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E et al.
Human Molecular Genetics, 1997
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