Concepedia

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami, Marco Castori, Madeline A. Lancaster, Eugen Boltshauser, Loredana Boccone, Lihadh Al‐Gazali,

Nature Genetics · 2006 · 402 citations · 9 references

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9

Proteomic characterization of the human centrosome by protein correlation profiling

Jens Andersen, Christopher J. Wilkinson, Thibault Mayor et al. · Nature · 2003 · 1.3K citations

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Familial agenesis of the cerebellar vermis

Marie Joubert, Jean-Jacques Eisenring, Jennifer Preston et al. · Neurology · 1969 · 651 citations · Full text

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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Russell J. Ferland, Wafaa Eyaid, Randall V. Collura et al. · Nature Genetics · 2004 · 412 citations · Full text

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"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

Bernard L. Maria, Karin B.N. Hoang, Ronald J. Tusa et al. · Journal of Child Neurology · 1997 · 334 citations

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Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh et al. · The American Journal of Human Genetics · 2004 · 292 citations · Full text

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