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
NOG-Derived Peptides Can Restore Neuritogenesis on a CRASH Syndrome Cell Model.
Gasparotto M et al.
Biomedicines, 2022
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
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
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
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
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