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A well-tolerated core needle muscle biopsy process suitable for children and adults.
Published in:
2020
By:
- Barthelemy, Florian;
- Woods, Jeremy D.;
- Nieves‐Rodriguez, Shirley;
- Douine, Emilie D.;
- Wang, Richard;
- Wanagat, Jonathan;
- Miceli, M. Carrie;
- Nelson, Stanley F.;
- Nieves-Rodriguez, Shirley
Publication type:
journal article
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239
By:
- Barthélémy, Florian;
- Navarro, Claire;
- Fayek, Racha;
- Da Silva, Nathalie;
- Roll, Patrice;
- Sigaudy, Sabine;
- Oshima, Junko;
- Bonne, Gisèle;
- Papadopoulou-Legbelou, Kyriaki;
- Evangeliou, Athanasios E;
- Spilioti, Martha;
- Lemerrer, Martine;
- Wevers, Ron A;
- Morava, Eva;
- Robaglia-Schlupp, Andrée;
- Lévy, Nicolas;
- Bartoli, Marc;
- De Sandre-Giovannoli, Annachiara
Publication type:
Article
Therapeutic exon ‘switching’ for dysferlinopathies?
Published in:
2010
By:
- Lévy, Nicolas;
- Wein, Nicolas;
- Barthelemy, Florian;
- Mouly, Vincent;
- Garcia, Luis;
- Krahn, Martin;
- Bartoli, Marc
Publication type:
Letter
Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80495-8
By:
- Bishop, David P.;
- Westerhausen, Mika T.;
- Barthelemy, Florian;
- Lockwood, Thomas;
- Cole, Nerida;
- Gibbs, Elizabeth M.;
- Crosbie, Rachelle H.;
- Nelson, Stanley F.;
- Miceli, M. Carrie;
- Doble, Philip A.;
- Wanagat, Jonathan
Publication type:
Article
Translational Research and Therapeutic Perspectives in Dysferlinopathies.
Published in:
Molecular Medicine, 2011, v. 17, n. 9/10, p. 875, doi. 10.2119/molmed.2011.00084
By:
- Barthélémy, Florian;
- Wein, Nicolas;
- Krahn, Martin;
- Lévy, Nicolas;
- Bartoli, Marc
Publication type:
Article
Cover Image, Volume 39, Issue 9.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. i, doi. 10.1002/humu.23600
By:
- Wang, Richard T.;
- Barthelemy, Florian;
- Martin, Ann S.;
- Douine, Emilie D.;
- Eskin, Ascia;
- Lucas, Ann;
- Lavigne, Jenifer;
- Peay, Holly;
- Khanlou, Negar;
- Sweeney, Lee;
- Cantor, Rita M.;
- Miceli, M. Carrie;
- Nelson, Stanley F.
Publication type:
Article
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1193, doi. 10.1002/humu.23561
By:
- Wang, Richard T.;
- Barthelemy, Florian;
- Martin, Ann S.;
- Douine, Emilie D.;
- Eskin, Ascia;
- Lucas, Ann;
- Lavigne, Jenifer;
- Peay, Holly;
- Khanlou, Negar;
- Sweeney, Lee;
- Cantor, Rita M.;
- Miceli, M. Carrie;
- Nelson, Stanley F.
Publication type:
Article
Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1216066
By:
- Nieves-Rodriguez, Shirley;
- Barthélémy, Florian;
- Woods, Jeremy D.;
- Douine, Emilie D.;
- Wang, Richard T.;
- Scripture-Adams, Deirdre D.;
- Chesmore, Kevin N.;
- Galasso, Francesca;
- Miceli, M. Carrie;
- Nelson, Stanley F.
Publication type:
Article
Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.
Published in:
Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03938-0
By:
- Scripture-Adams, Deirdre D.;
- Chesmore, Kevin N.;
- Barthélémy, Florian;
- Wang, Richard T.;
- Nieves-Rodriguez, Shirley;
- Wang, Derek W.;
- Mokhonova, Ekaterina I.;
- Douine, Emilie D.;
- Wan, Jijun;
- Little, Isaiah;
- Rabichow, Laura N.;
- Nelson, Stanley F.;
- Miceli, M. Carrie
Publication type:
Article

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