Lunardi J - Search Results

1

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J. Satre V, et al. Among authors: lunardi j. Am J Hum Genet. 1999 Jul;65(1):68-76. doi: 10.1086/302443. Am J Hum Genet. 1999. PMID: 10364518 Free PMC article.

2

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J. Hichri H, et al. Among authors: lunardi j. Hum Mutat. 2011 Apr;32(4):379-88. doi: 10.1002/humu.21391. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21031565 Free article.

3

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

Monnier N, Procaccio V, Stieglitz P, Lunardi J. Monnier N, et al. Among authors: lunardi j. Am J Hum Genet. 1997 Jun;60(6):1316-25. doi: 10.1086/515454. Am J Hum Genet. 1997. PMID: 9199552 Free PMC article.

4

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mutat. 2000;16(2):157-65. doi: 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10923037

5

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mol Genet. 2003 May 15;12(10):1171-8. doi: 10.1093/hmg/ddg121. Hum Mol Genet. 2003. PMID: 12719381

6

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

Coutton C, Monnier N, Rendu J, Lunardi J. Coutton C, et al. Among authors: lunardi j. Clin Biochem. 2010 Apr;43(6):609-14. doi: 10.1016/j.clinbiochem.2009.12.012. Epub 2010 Jan 4. Clin Biochem. 2010. PMID: 20043897

7

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.

Faucherre A, Desbois P, Satre V, Lunardi J, Dorseuil O, Gacon G. Faucherre A, et al. Among authors: lunardi j. Hum Mol Genet. 2003 Oct 1;12(19):2449-56. doi: 10.1093/hmg/ddg250. Epub 2003 Jul 29. Hum Mol Genet. 2003. PMID: 12915445

8

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.

Faucherre A, Desbois P, Nagano F, Satre V, Lunardi J, Gacon G, Dorseuil O. Faucherre A, et al. Among authors: lunardi j. Hum Mol Genet. 2005 Jun 1;14(11):1441-8. doi: 10.1093/hmg/ddi153. Epub 2005 Apr 13. Hum Mol Genet. 2005. PMID: 15829501

9

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mol Genet. 2000 Nov 1;9(18):2599-608. doi: 10.1093/hmg/9.18.2599. Hum Mol Genet. 2000. PMID: 11063719

10

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mol Genet. 2001 Oct 15;10(22):2581-92. doi: 10.1093/hmg/10.22.2581. Hum Mol Genet. 2001. PMID: 11709545

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