Browse by UCL people
Group by: Type | Date
Jump to: Article
Number of items: 18.
Article
Dion, C;
Roche, S;
Laberthonnière, C;
Broucqsault, N;
Mariot, V;
Xue, S;
Gurzau, AD;
... Magdinier, F; + view all
(2019)
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Research
, 47
(6)
pp. 2822-2839.
10.1093/nar/gkz005.
|
Gaillard, M-C;
Puppo, F;
Roche, S;
Dion, C;
Campana, ES;
Mariot, V;
Chaix, C;
... Bartoli, M; + view all
(2016)
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC Medical Genetics
, 17
(1)
, Article 66. 10.1186/s12881-016-0328-9.
|
Joubert, R;
Mariot, V;
Charpentier, M;
Concordet, JP;
Dumonceaux, J;
(2020)
Gene Editing Targeting the DUX4 Polyadenylation Signal: A Therapy for FSHD?
Journal of Personalized Medicine
, 11
(1)
, Article 7. 10.3390/jpm11010007.
|
Joubert, R;
Mariot, V;
Dumonceaux, J;
(2020)
A one-hour universal protocol for mouse genotyping.
Muscle and Nerve
, 61
(6)
pp. 801-807.
10.1002/mus.26841.
|
Le Gall, Laura;
Duddy, William J;
Martinat, Cecile;
Mariot, Virginie;
Connolly, Owen;
Milla, Vanessa;
Anakor, Ekene;
... Pradat, Pierre Francois; + view all
(2022)
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12945.
(In press).
|
Le Gall, L;
Sidlauskaite, E;
Mariot, V;
Dumonceaux, J;
(2020)
Therapeutic Strategies Targeting DUX4 in FSHD.
Journal of Clinical Medicine
, 9
(9)
, Article 2886. 10.3390/jcm9092886.
|
Mariot, V;
Joubert, R;
Le Gall, L;
Sidlauskaite, E;
Hourde, C;
Duddy, W;
Voit, T;
... Dumonceaux, J; + view all
(2021)
RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12813.
(In press).
|
Mariot, Virginie;
Dumonceaux, Julie;
(2022)
Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.
Frontiers in Genome Editing
, 4
, Article 937879. 10.3389/fgeed.2022.937879.
|
Mariot, V;
Joubert, R;
Hourdé, C;
Féasson, L;
Hanna, M;
Muntoni, F;
Maisonobe, T;
... Dumonceaux, J; + view all
(2017)
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.
Nature Communications
, 8
, Article 1859. 10.1038/s41467-017-01486-4.
|
Mariot, V;
Joubert, R;
Marsollier, A-C;
Hourde, C;
Voit, T;
Dumonceaux, J;
(2020)
A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy.
Molecular Therapy - Nucleic Acids
, 22
pp. 1191-1199.
10.1016/j.omtn.2020.10.028.
|
Mariot, V;
Le Guiner, C;
Barthelemy, I;
Montus, M;
Blot, S;
Torelli, S;
Morgan, J;
... Dumonceaux, J; + view all
(2020)
Myostatin is a quantifiable biomarker for monitoring pharmaco-gene therapy in Duchenne Muscular Dystrophy.
Molecular Therapy - Methods and Clinical Development
, 18
pp. 415-421.
10.1016/j.omtm.2020.06.016.
|
Marsollier, A-C;
Joubert, R;
Mariot, V;
Dumonceaux, J;
(2018)
Targeting the polyadenylation signal of pre-mRNA: a new gene silencing approach for Facioscapulohumeral dystrophy.
International Journal of Molecular Sciences
, 19
(5)
, Article 1347. 10.3390/ijms19051347.
|
Morgan, JE;
Prola, A;
Mariot, V;
Pini, V;
Meng, J;
Hourde, C;
Dumonceaux, J;
... Bencze, M; + view all
(2018)
Publisher Correction: Necroptosis Mediates Myofibre Death in Dystrophin-deficient Mice.
[Corrigendum].
Nature Communications
, 9
(1)
, Article 4107. 10.1038/s41467-018-06636-w.
|
Morgan, JE;
Prola, A;
Mariot, V;
Pini, V;
Meng, J;
Hourde, C;
Dumonceaux, J;
... Bencze, M; + view all
(2018)
Necroptosis mediates myofibre death in dystrophin-deficient mice.
Nature Communications
, 9
, Article 3655. 10.1038/s41467-018-06057-9.
|
Pini, Veronica;
Mariot, Virginie;
Dumonceaux, Julie;
Counsell, John;
O'Neill, Helen C;
Farmer, Sarah;
Conti, Francesco;
(2022)
Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications.
Scientific Reports
, 12
(1)
, Article 3756. 10.1038/s41598-022-07671-w.
|
Redelsperger, F;
Raddi, N;
Bacquin, A;
Vernochet, C;
Mariot, V;
Gache, V;
Blanchard-Gutton, N;
... Heidmann, T; + view all
(2016)
Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice.
PLoS Genetics
, 12
(9)
, Article e1006289. 10.1371/journal.pgen.1006289.
|
Sidlauskaite, E;
Le Gall, L;
Mariot, V;
Dumonceaux, J;
(2020)
DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation.
Journal of Personalized Medicine
, 10
(3)
, Article 73. 10.3390/jpm10030073.
|
Zhou, H;
Meng, J;
Malerba, A;
Catapano, F;
Sintusek, P;
Jarmin, S;
Feng, L;
... Muntoni, F; + view all
(2020)
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12542.
(In press).
|