Concepedia

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus

Mariola Marx, Simone Diestel, Muriel Bozon, Laura Keglowich, Nathalie Drouot, Elisabeth Bouché, Thierry Frébourg, Marie Minz, Pascale Saugier-Véber, Valérie Castellani,

Neurogenetics · 2012 · 14 citations · 43 references

DOI

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References

43

High-level and high-throughput recombinant protein production by transient transfection of suspension-growing human 293-EBNA1 cells

Yves Durocher · Nucleic Acids Research · 2002 · 1.1K citations · Full text

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Neuroblastoma × spinal cord (NSC) hybrid cell lines resemble developing motor neurons

Neil R. Cashman, Heather D. Durham, Jan Krzysztof Blusztajn et al. · Developmental Dynamics · 1992 · 713 citations

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Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

Jean-Pierre Morello, Ali Salahpour, André Laperrière et al. · Journal of Clinical Investigation · 2000 · 562 citations · Full text

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X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

Monique Jouet, André Rosenthal, Giles Armstrong et al. · Nature Genetics · 1994 · 420 citations

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Reelin Activates Src Family Tyrosine Kinases in Neurons

Hans H. Bock, Joachim Herz · Current Biology · 2003 · 360 citations · Full text

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