Shrinivasamurthy M, Benakanal S, Kakanahalli N
Ann Neurosci. 2025; 32(1):38-46.
PMID: 40026328
PMC: 11869245.
DOI: 10.1177/09727531231185224.
Hale A, Boudreau H, Devulapalli R, Duy P, Atchley T, Dewan M
Fluids Barriers CNS. 2024; 21(1):24.
PMID: 38439105
PMC: 10913327.
DOI: 10.1186/s12987-024-00513-z.
Ahmed R, Medhat A, Hamdy G, Effat L, Abdel-Hamid M, Abdel-Salam G
Mol Syndromol. 2023; 14(4):283-292.
PMID: 37766829
PMC: 10521243.
DOI: 10.1159/000529545.
Yang J, Simonneau C, Kilker R, Oakley L, Byrne M, Nichtova Z
EMBO Mol Med. 2018; 11(1).
PMID: 30518636
PMC: 6328942.
DOI: 10.15252/emmm.201809540.
Ferese R, Zampatti S, Griguoli A, Fornai F, Giardina E, Barrano G
J Mol Neurosci. 2016; 59(3):376-81.
PMID: 27207492
DOI: 10.1007/s12031-016-0754-3.
Detection of L1 CAM mutation in a male child with mental retardation.
Swarna M, Sujatha M, Rani P, Reddy P
Indian J Clin Biochem. 2012; 19(2):163-7.
PMID: 23105477
PMC: 3454211.
DOI: 10.1007/BF02894278.
Genotype-phenotype correlation in L1 associated diseases.
Fransen E, Van Camp G, DHooge R, Vits L, Willems P
J Med Genet. 1998; 35(5):399-404.
PMID: 9610803
PMC: 1051314.
DOI: 10.1136/jmg.35.5.399.
CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
Yamasaki M, Thompson P, LEMMON V
Neuropediatrics. 1997; 28(3):175-8.
PMID: 9266556
PMC: 1563987.
DOI: 10.1055/s-2007-973696.
A new mutation of the L1CAM gene in an X-linked hydrocephalus family.
Izumoto S, Yamasaki M, Arita N, Hiraga S, Ohnishi T, Fujitani K
Childs Nerv Syst. 1996; 12(12):742-7.
PMID: 9118141
DOI: 10.1007/BF00261591.
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.
Bateman A, Jouet M, MacFarlane J, Du J, Kenwrick S, Chothia C
EMBO J. 1996; 15(22):6050-9.
PMID: 8947027
PMC: 452426.
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
Gu S, Orth U, Veske A, Enders H, Klunder K, Schlosser M
J Med Genet. 1996; 33(2):103-6.
PMID: 8929944
PMC: 1051833.
DOI: 10.1136/jmg.33.2.103.
X linked hydrocephalus and MASA syndrome.
Kenwrick S, Jouet M, Donnai D
J Med Genet. 1996; 33(1):59-65.
PMID: 8825051
PMC: 1051814.
DOI: 10.1136/jmg.33.1.59.
A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.
Takechi T, Tohyama J, Kurashige T, Maruta K, Uyemura K, Ohi T
Hum Genet. 1996; 97(3):353-6.
PMID: 8786080
DOI: 10.1007/BF02185770.
Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.
Jouet M, Strain L, Bonthron D, Kenwrick S
J Med Genet. 1996; 33(3):248-50.
PMID: 8728703
PMC: 1051879.
DOI: 10.1136/jmg.33.3.248.
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N
Am J Hum Genet. 1995; 56(6):1304-14.
PMID: 7762552
PMC: 1801103.
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
Ruiz J, Cuppens H, Legius E, Fryns J, Glover T, Marynen P
J Med Genet. 1995; 32(7):549-52.
PMID: 7562969
PMC: 1050549.
DOI: 10.1136/jmg.32.7.549.