Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

Susan E. Stepp, Rémi Dufourcq-Lagelouse, Françoise Le Deist et al. · Science · 1999 · 1.2K citations

Life Sciences, Genetics, Immunology +15

Interaction of a Golgi-Associated Kinesin-Like Protein with Rab6

Arnaud Échard, Florence Jollivet, Olivier Martinez et al. · Science · 1998 · 510 citations

Life Sciences, Cell Biology, Molecular Biology +17

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

Élodie Pastural, Franck J. Barrat, Rémi Dufourcq-Lagelouse et al. · Nature Genetics · 1997 · 457 citations

Life Sciences, Genetics, Molecular Genetics +7

Brain myosin-V is a two-headed unconventional myosin with motor activity

Richard E. Cheney, John E. Heuser, Milton Vieira Coelho et al. · Cell · 1993 · 436 citations

Life Sciences, Neurobiology, Neuroscience +10

A syndrome associating partial albinism and immunodeficiency

C Griscelli, Anne Durandy, Delphine Guy‐Grand et al. · The American Journal of Medicine · 1978 · 385 citations

Life Sciences, Genetics, Immunology +12