Kretz C - Search Results

1

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.

Massana Muñoz X, Kretz C, Silva-Rojas R, Ochala J, Menuet A, Romero NB, Cowling BS, Laporte J. Massana Muñoz X, et al. Among authors: kretz c. JCI Insight. 2020 Sep 17;5(18):e137899. doi: 10.1172/jci.insight.137899. JCI Insight. 2020. PMID: 32809972 Free PMC article.

2

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. Laporte J, et al. Among authors: kretz c. Nat Genet. 1996 Jun;13(2):175-82. doi: 10.1038/ng0696-175. Nat Genet. 1996. PMID: 8640223

3

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers.

Hu LJ, Laporte J, Kioschis P, Heyberger S, Kretz C, Poustka A, Mandel JL, Dahi N. Hu LJ, et al. Among authors: kretz c. Hum Genet. 1996 Aug;98(2):178-81. doi: 10.1007/s004390050185. Hum Genet. 1996. PMID: 8698337

4

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.

Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A, Mandel JL, Dahl N. Laporte J, et al. Among authors: kretz c. Genomics. 1997 May 1;41(3):458-62. doi: 10.1006/geno.1997.4662. Genomics. 1997. PMID: 9169146

5

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL. Laporte J, et al. Among authors: kretz c. Hum Mol Genet. 1998 Oct;7(11):1703-12. doi: 10.1093/hmg/7.11.1703. Hum Mol Genet. 1998. PMID: 9736772

6

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

Zanoteli E, Laporte J, Rocha JC, Kretz C, Oliveira AS, Mandel JL, Perez AB, Gabbai AA, Buj-Bello A. Zanoteli E, et al. Among authors: kretz c. Am J Med Genet A. 2005 Apr 30;134(3):338-40. doi: 10.1002/ajmg.a.30574. Am J Med Genet A. 2005. PMID: 15690409 No abstract available.

7

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J. Tosch V, et al. Among authors: kretz c. Hum Mol Genet. 2006 Nov 1;15(21):3098-106. doi: 10.1093/hmg/ddl250. Epub 2006 Sep 28. Hum Mol Genet. 2006. PMID: 17008356

8

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. Nicot AS, et al. Among authors: kretz c. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5. Nat Genet. 2007. PMID: 17676042

9

Dementia in a child with myotubular myopathy.

McCrea HJ, Kretz C, Laporte J, Ment LR. McCrea HJ, et al. Among authors: kretz c. Pediatr Neurol. 2009 Jun;40(6):483-5. doi: 10.1016/j.pediatrneurol.2009.01.005. Pediatr Neurol. 2009. PMID: 19433289 Free PMC article.

10

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A. Al-Qusairi L, et al. Among authors: kretz c. Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. doi: 10.1073/pnas.0900705106. Epub 2009 Oct 21. Proc Natl Acad Sci U S A. 2009. PMID: 19846786 Free PMC article.

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