Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM

Disruption of the mouse L1 gene leads to malformations of the nervous system

Miriam Dahme, Udo Bartsch, Rudolf Martini et al. · Nature Genetics · 1997 · 489 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Life Sciences, Molecular Genetics, Neurology +8

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus

André Rosenthal, Monique Jouet, Susan Kenwrick · Nature Genetics · 1992 · 326 citations

Life Sciences, Genetics, Molecular Genetics +14

X linked recessive inheritance of agenesis of the corpus callosum.

Paige Kaplan · Journal of Medical Genetics · 1983 · 63 citations · Full text

Medicine, Neurology, Pediatrics +16

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

Nobuhiko Okamoto, Yoshinao Wada, Minako Goto · Journal of Medical Genetics · 1997 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12