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Literature DB >> 8956051

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

G Van Camp, E Fransen, L Vits, G Raes, P J Willems.

Abstract

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Year: 1996 PMID： 8956051 DOI： 10.1002/(SICI)1098-1004(1996)8:4<391::AID-HUMU19>3.0.CO;2-Y

Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878

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14 in total

1. Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression.

Authors: H D Moulding; R L Martuza; S D Rabkin
Journal: J Neurosci Date: 2000-08-01 Impact factor: 6.167

2. The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation.

Authors: S Tuvia; T D Garver; V Bennett
Journal: Proc Natl Acad Sci U S A Date: 1997-11-25 Impact factor: 11.205

3. Mutation screening in Rett syndrome patients.

Authors: F Xiang; S Buervenich; P Nicolao; M E Bailey; Z Zhang; M Anvret
Journal: J Med Genet Date: 2000-04 Impact factor: 6.318

4. Maintenance of neuronal positions in organized ganglia by SAX-7, a Caenorhabditis elegans homologue of L1.

Authors: Hiroyuki Sasakura; Hitoshi Inada; Atsushi Kuhara; Eri Fusaoka; Daisuke Takemoto; Kosei Takeuchi; Ikue Mori
Journal: EMBO J Date: 2005-03-17 Impact factor: 11.598

5. A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).

Authors: Rosangela Ferese; Stefania Zampatti; Anna Maria Pia Griguoli; Francesco Fornai; Emiliano Giardina; Giuseppe Barrano; Veronica Albano; Rosa Campopiano; Simona Scala; Giuseppe Novelli; Stefano Gambardella
Journal: J Mol Neurosci Date: 2016-05-20 Impact factor: 3.444

6. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.

Authors: R C Michaelis; Y Z Du; C E Schwartz
Journal: J Med Genet Date: 1998-11 Impact factor: 6.318

10. Structural requirements for outside-in and inside-out signaling by Drosophila neuroglian, a member of the L1 family of cell adhesion molecules.

Authors: M Hortsch; D Homer; J D Malhotra; S Chang; J Frankel; G Jefford; R R Dubreuil
Journal: J Cell Biol Date: 1998-07-13 Impact factor: 10.539