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A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L. Abitbol M, et al. Among authors: blot s. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107. Epub 2010 Aug 2. Proc Natl Acad Sci U S A. 2010. PMID: 20679209 Free PMC article.
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.
Maurer M, Mary J, Guillaud L, Fender M, Pelé M, Bilzer T, Olby N, Penderis J, Shelton GD, Panthier JJ, Thibaud JL, Barthélémy I, Aubin-Houzelstein G, Blot S, Hitte C, Tiret L. Maurer M, et al. Among authors: blot s. PLoS One. 2012;7(10):e46408. doi: 10.1371/journal.pone.0046408. Epub 2012 Oct 5. PLoS One. 2012. PMID: 23071563 Free PMC article.
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Blondelle J, Ohno Y, Gache V, Guyot S, Storck S, Blanchard-Gutton N, Barthélémy I, Walmsley G, Rahier A, Gadin S, Maurer M, Guillaud L, Prola A, Ferry A, Aubin-Houzelstein G, Demarquoy J, Relaix F, Piercy RJ, Blot S, Kihara A, Tiret L, Pilot-Storck F. Blondelle J, et al. Among authors: blot s. J Mol Cell Biol. 2015 Oct;7(5):429-40. doi: 10.1093/jmcb/mjv049. Epub 2015 Jul 9. J Mol Cell Biol. 2015. PMID: 26160855 Free PMC article.
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
Walmsley GL, Blot S, Venner K, Sewry C, Laporte J, Blondelle J, Barthélémy I, Maurer M, Blanchard-Gutton N, Pilot-Storck F, Tiret L, Piercy RJ. Walmsley GL, et al. Among authors: blot s. Am J Pathol. 2017 Feb;187(2):441-456. doi: 10.1016/j.ajpath.2016.10.002. Epub 2016 Dec 8. Am J Pathol. 2017. PMID: 27939133 Free article.
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.
Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. Barthélémy I, et al. Among authors: blot s. Skelet Muscle. 2020 Aug 7;10(1):23. doi: 10.1186/s13395-020-00239-0. Skelet Muscle. 2020. PMID: 32767978 Free PMC article.
A dog model for centronuclear myopathy carrying the most common DNM2 mutation.
Böhm J, Barthélémy I, Landwerlin C, Blanchard-Gutton N, Relaix F, Blot S, Laporte J, Tiret L. Böhm J, et al. Among authors: blot s. Dis Model Mech. 2022 Apr 1;15(4):dmm049219. doi: 10.1242/dmm.049219. Epub 2022 Apr 14. Dis Model Mech. 2022. PMID: 35244154 Free PMC article.
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy.
Le Guiner C, Servais L, Montus M, Larcher T, Fraysse B, Moullec S, Allais M, François V, Dutilleul M, Malerba A, Koo T, Thibaut JL, Matot B, Devaux M, Le Duff J, Deschamps JY, Barthelemy I, Blot S, Testault I, Wahbi K, Ederhy S, Martin S, Veron P, Georger C, Athanasopoulos T, Masurier C, Mingozzi F, Carlier P, Gjata B, Hogrel JY, Adjali O, Mavilio F, Voit T, Moullier P, Dickson G. Le Guiner C, et al. Among authors: blot s. Nat Commun. 2017 Jul 25;8:16105. doi: 10.1038/ncomms16105. Nat Commun. 2017. PMID: 28742067 Free PMC article.
498 results