Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for cl...
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
About this item
Full title
Author / Creator
Adle-Biassette, Homa , Saugier-Veber, Pascale , Fallet-Bianco, Catherine , Delezoide, Anne-Lise , Razavi, Férecheté , Drouot, Nathalie , Bazin, Anne , Beaufrère, Anne-Marie , Bessières, Bettina , Blesson, Sophie , Bucourt, Martine , Carles, Dominique , Devisme, Louise , Dijoud, Frédérique , Fabre, Blandine , Fernandez, Carla , Gaillard, Dominique , Gonzales, Marie , Jossic, Frédérique , Joubert, Madeleine , Laurent, Nicole , Leroy, Brigitte , Loeuillet, Laurence , Loget, Philippe , Marcorelles, Pascale , Martinovic, Jelena , Perez, Marie-José , Satge, Daniel , Sinico, Martine , Tosi, Mario , Benichou, Jacques , Gressens, Pierre , Frebourg, Thierry and Laquerrière, Annie
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
L1 syndrome results from mutations in the
L1CAM
gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiology is incompletely understood. The aim of this study was to report detailed neuropathological data from patients with mutations, to d...
Alternative Titles
Full title
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
Authors, Artists and Contributors
Author / Creator
Saugier-Veber, Pascale
Fallet-Bianco, Catherine
Delezoide, Anne-Lise
Razavi, Férecheté
Drouot, Nathalie
Bazin, Anne
Beaufrère, Anne-Marie
Bessières, Bettina
Blesson, Sophie
Bucourt, Martine
Carles, Dominique
Devisme, Louise
Dijoud, Frédérique
Fabre, Blandine
Fernandez, Carla
Gaillard, Dominique
Gonzales, Marie
Jossic, Frédérique
Joubert, Madeleine
Laurent, Nicole
Leroy, Brigitte
Loeuillet, Laurence
Loget, Philippe
Marcorelles, Pascale
Martinovic, Jelena
Perez, Marie-José
Satge, Daniel
Sinico, Martine
Tosi, Mario
Benichou, Jacques
Gressens, Pierre
Frebourg, Thierry
Laquerrière, Annie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1434028241
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1434028241
Other Identifiers
ISSN
0001-6322
E-ISSN
1432-0533
DOI
10.1007/s00401-013-1146-1
