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Journal articles
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy
Matthew Elverman
Melissa Goddard
1
David Mack
Jessica Snyder
Michael Lawlor
Hui Meng
Alan Beggs
2
Ana Buj-Bello
3
Karine Poulard
1
Anthony Marsh
Robert Grange
4
Valerie Kelly
Martin Childers
5
Matthew Elverman
Author
Melissa Goddard 1
Mail :
Author IdHAL : melissa-goddard
David Mack
Author
Jessica Snyder
Author
Martin K. Childers 5
Author
1
INTEGRARE - Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (1 bis rue de l'Internationale, 91002 Évry Cedex - France)
- EPHE - École pratique des hautes études (4-14 Rue Ferrus, 75014 Paris - France)
- UEVE - Université d'Évry-Val-d'Essonne (Boulevard François Mitterrand 91025 Evry Cedex - France)
- GENETHON 3 (France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : UMR_S951 (101, rue de Tolbiac, 75013 Paris - France)
2
Genomics Program and Division of Genetics (Boston, MA - United States)
- HMS - Harvard Medical School [Boston] (25 Shattuck Street Boston, MA 02115 - United States)
- Boston Children's Hospital (300 Longwood Ave, Boston, MA 02115 - United States)
- The Manton Center for Orphan Disease Research (France)
3
Généthon, Evry (Evry - France)
4
LAM - Laboratoire d'Astrophysique de Marseille (Pôle de l'Étoile Site de Château-Gombert 38, rue Frédéric Joliot-Curie 13388 Marseille cedex 13 - France)
- AMU - Aix Marseille Université : UMR7326 (Aix-Marseille Université Jardins du Pharo 58 Boulevard Charles Livon 13284 Marseille cedex 7 - France)
- INSU - CNRS - Institut national des sciences de l'Univers (INSU-CNRS 3 rue Michel-Ange, 75794 Paris Cedex 16 - France)
- CNES - Centre National d'Études Spatiales [Toulouse] : UMR7326 (18 avenue Edouard Belin 31401 Toulouse - France)
- CNRS - Centre National de la Recherche Scientifique : UMR7326 (France)
5
Wake Forest University (1834 Wake Forest Rd, Winston-Salem, NC 27109, États-Unis - United States)
Abstract : X-linked myotubular myopathy (XLMTM), a devastating pediatric disease caused by the absence of the protein myotubularin, results from mutations in the MTM1 gene. While there is no cure for XLMTM, we previously reported effects of MTM1 gene therapy using adeno-associated virus (AAV) vector on muscle weakness and pathology in MTM1-mutant dogs. Here, we followed 2 AAV-infused dogs over 4 years.
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Journal articles
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Complete list of metadatas
https://hal-univ-evry.archives-ouvertes.fr/hal-02179358
Contributor : Melissa Goddard <>
Submitted on : Wednesday, July 10, 2019 - 4:40:55 PM
Last modification on : Tuesday, July 21, 2020 - 3:44:42 AM
Contributor : Melissa Goddard <>
Submitted on : Wednesday, July 10, 2019 - 4:40:55 PM
Last modification on : Tuesday, July 21, 2020 - 3:44:42 AM
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Identifiers
- HAL Id : hal-02179358, version 1
- DOI : 10.1002/mus.25658
- PUBMED : 28370029
Collections
UNIV-EVRY | LAM | CNRS | INTEGRARE | INSU | UNIV-AMU | OSU-INSTITUT-PYTHEAS | UNIV-PARIS-SACLAY | EPHE
Citation
Matthew Elverman, Melissa Goddard, David Mack, Jessica Snyder, Michael Lawlor, et al.. Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. Muscle & nerve. Supplement., 2017, 56 (5), pp.943-953. ⟨10.1002/mus.25658⟩. ⟨hal-02179358⟩
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