Year |
Citation |
Score |
2012 |
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, ... ... Louie CM, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/Ng.1078 |
0.658 |
|
2011 |
Lancaster MA, Gopal DJ, Kim J, Saleem SN, Silhavy JL, Louie CM, Thacker BE, Williams Y, Zaki MS, Gleeson JG. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nature Medicine. 17: 726-31. PMID 21623382 DOI: 10.1038/Nm.2380 |
0.648 |
|
2010 |
Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nature Genetics. 42: 175-80. PMID 20081859 DOI: 10.1038/Ng.519 |
0.619 |
|
2009 |
Lancaster MA, Louie CM, Silhavy JL, Sintasath L, Decambre M, Nigam SK, Willert K, Gleeson JG. Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nature Medicine. 15: 1046-54. PMID 19718039 DOI: 10.1038/Nm.2010 |
0.57 |
|
2006 |
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics. 38: 623-5. PMID 16682970 DOI: 10.1038/Ng1805 |
0.671 |
|
2005 |
Louie CM, Gleeson JG. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Human Molecular Genetics. 14: R235-42. PMID 16244321 DOI: 10.1093/Hmg/Ddi264 |
0.594 |
|
2004 |
Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. American Journal of Human Genetics. 75: 979-87. PMID 15467982 DOI: 10.1086/425985 |
0.6 |
|
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