Kretz C - Search Results

1

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.

Lionello VM, Nicot AS, Sartori M, Kretz C, Kessler P, Buono S, Djerroud S, Messaddeq N, Koebel P, Prokic I, Hérault Y, Romero NB, Laporte J, Cowling BS. Lionello VM, et al. Among authors: kretz c. Sci Transl Med. 2019 Mar 20;11(484):eaav1866. doi: 10.1126/scitranslmed.aav1866. Sci Transl Med. 2019. PMID: 30894500

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

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.

Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denèfle P, Mandel JL. Buj-Bello A, et al. Among authors: kretz c. Hum Mol Genet. 2008 Jul 15;17(14):2132-43. doi: 10.1093/hmg/ddn112. Epub 2008 Apr 22. Hum Mol Genet. 2008. PMID: 18434328 Free PMC article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

104 results

Search Page

Filters