OpenURL Connection Search

Select item for more details and to access through your institution.

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01048-8
By:
- Ross, Jacob A.;
- Tasfaout, Hichem;
- Levy, Yotam;
- Morgan, Jennifer;
- Cowling, Belinda S.;
- Laporte, Jocelyn;
- Zanoteli, Edmar;
- Romero, Norma B.;
- Lowe, Dawn A.;
- Jungbluth, Heinz;
- Lawlor, Michael W.;
- Mack, David L.;
- Ochala, Julien
Publication type:
Article
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34490-4
By:
- Gómez-Oca, Raquel;
- Edelweiss, Evelina;
- Djeddi, Sarah;
- Gerbier, Mathias;
- Massana-Muñoz, Xènia;
- Oulad-Abdelghani, Mustapha;
- Crucifix, Corinne;
- Spiegelhalter, Coralie;
- Messaddeq, Nadia;
- Poussin-Courmontagne, Pierre;
- Koebel, Pascale;
- Cowling, Belinda S.;
- Laporte, Jocelyn
Publication type:
Article
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 11377, doi. 10.3390/ijms222111377
By:
- Gómez-Oca, Raquel;
- Cowling, Belinda S.;
- Laporte, Jocelyn
Publication type:
Article
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.
Published in:
2022
By:
- Vander Stichele, Geert;
- Durr, Alexandra;
- Yoon, Grace;
- Schüle, Rebecca;
- Blackstone, Craig;
- Esposito, Giovanni;
- Buffel, Connor;
- Oliveira, Inês;
- Freitag, Christian;
- van Rooijen, Stephane;
- Hoffmann, Stéphanie;
- Thielemans, Leen;
- Cowling, Belinda S.
Publication type:
journal article
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
Published in:
2014
By:
- Cowling, Belinda S;
- Chevremont, Thierry;
- Prokic, Ivana;
- Kretz, Christine;
- Ferry, Arnaud;
- Coirault, Catherine;
- Koutsopoulos, Olga;
- Laugel, Vincent;
- Romero, Norma B;
- Laporte, Jocelyn
Publication type:
journal article
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1350, doi. 10.1172/JCI71206
By:
- Cowling, Belinda S.;
- Chevremont, Thierry;
- Prokic, Ivana;
- Kretz, Christine;
- Ferry, Arnaud;
- Coirault, Catherine;
- Koutsopoulos, Olga;
- Laugel, Vincent;
- Romero, Norma B.;
- Laporte, Jocelyn
Publication type:
Article
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
Published in:
2008
By:
- Schessl, Joachim;
- Yaqun Zou;
- McGrath, Meagan J.;
- Cowling, Belinda S.;
- Maiti, Baijayanta;
- Chin, Steven S.;
- Sewry, Caroline;
- Battini, Roberta;
- Ying Hu;
- Cottle, Denny L.;
- Rosenblatt, Michael;
- Spruce, Lynn;
- Ganguly, Arupa;
- Kirschner, Janbernd;
- Judkins, Alexander R.;
- Golden, Jeffrey A.;
- Goebel, Hans-Hilmar;
- Muntoni, Francesco;
- Flanigan, Kevin M.;
- Mitchell, Christina A.
Publication type:
journal article
Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07058-4
By:
- Gayi, Elinam;
- Neff, Laurence A.;
- Massana Muñoz, Xènia;
- Ismail, Hesham M.;
- Sierra, Marta;
- Mercier, Thomas;
- Décosterd, Laurent A.;
- Laporte, Jocelyn;
- Cowling, Belinda S.;
- Dorchies, Olivier M.;
- Scapozza, Leonardo
Publication type:
Article
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.
Published in:
2017
By:
- Cowling, Belinda S.;
- Prokic, Ivana;
- Tasfaout, Hichem;
- Rabai, Aymen;
- Nicot, Anne-Sophie;
- Kretz, Christine;
- Laporte, Jocelyn;
- Humbert, Frédéric;
- Roux, Aurélien;
- Rinaldi, Bruno;
- Friant, Sylvie
Publication type:
journal article
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.
Published in:
Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15661
By:
- Tasfaout, Hichem;
- Buono, Suzie;
- Guo, Shuling;
- Kretz, Christine;
- Messaddeq, Nadia;
- Booten, Sheri;
- Greenlee, Sarah;
- Monia, Brett P.;
- Cowling, Belinda S.;
- Laporte, Jocelyn
Publication type:
Article
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
Published in:
Science Translational Medicine, 2019, v. 11, n. 484, p. N.PAG, doi. 10.1126/scitranslmed.aav1866
By:
- Lionello, Valentina M.;
- Nicot, Anne-Sophie;
- Sartori, Maxime;
- Kretz, Christine;
- Kessler, Pascal;
- Buono, Suzie;
- Djerroud, Sarah;
- Messaddeq, Nadia;
- Koebel, Pascale;
- Prokic, Ivana;
- Hérault, Yann;
- Romero, Norma B.;
- Laporte, Jocelyn;
- Cowling, Belinda S.
Publication type:
Article
Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy.
Published in:
2021
By:
- Fouarge, Eve;
- Monseur, Arnaud;
- Boulanger, Bruno;
- Annoussamy, Mélanie;
- Seferian, Andreea M.;
- De Lucia, Silvana;
- Lilien, Charlotte;
- Thielemans, Leen;
- Paradis, Khazal;
- Cowling, Belinda S.;
- Freitag, Chris;
- Carlin, Bradley P.;
- Servais, Laurent;
- the NatHis-MTM Study Group;
- Gidaro, Teresa;
- Gargaun, Elena;
- Chê, Virginie;
- Schara, Ulrike;
- Gangfuß, Andrea;
- D'Amico, Adele
Publication type:
journal article
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.
Published in:
Journal of Cell Biology, 2008, v. 183, n. 6, p. 1033, doi. 10.1083/jcb.200804077
By:
- Cowling, Belinda S.;
- McGrath, Meagan J.;
- Nguyen, Mai-Anh;
- Cottle, Denny L.;
- Kee, Anthony J.;
- Brown, Susan;
- Schessl, Joachim;
- Yaqun Zou;
- Joya, Josephine;
- Bönnemann, Carsten G.;
- Hardeman, Edna C.;
- Mitchel, Christina A.
Publication type:
Article
Different in vivo impacts of dynamin 2 mutations implicated in Charcot–Marie–Tooth neuropathy or centronuclear myopathy.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 24, p. 4067, doi. 10.1093/hmg/ddz249
By:
- Muñoz, Xènia Massana;
- Buono, Suzie;
- Koebel, Pascale;
- Laporte, Jocelyn;
- Cowling, Belinda S
Publication type:
Article
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3736, doi. 10.1093/hmg/ddx258
By:
- Raess, Matthieu A.;
- Cowling, Belinda S.;
- Bertazzi, Dimitri L.;
- Kretz, Christine;
- Rinaldi, Bruno;
- Xuereb, Jean-Marie;
- Kessler, Pascal;
- Romero, Norma B.;
- Payrastre, Bernard;
- Friant, Sylvie;
- Laporte, Jocelyn
Publication type:
Article
Identification of FHL1 as a therapeutic target for Duchenne muscular dystrophy.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 3, p. 618, doi. 10.1093/hmg/ddt449
By:
- D'Arcy, Colleen E.;
- Feeney, Sandra J.;
- McLean, Catriona A.;
- Gehrig, Stefan M.;
- Lynch, Gordon S.;
- Smith, Jaclyn E.;
- Cowling, Belinda S.;
- Mitchell, Christina A.;
- McGrath, Meagan J.
Publication type:
Article
Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice.
Published in:
PLoS Genetics, 2012, v. 8, n. 10, p. 1, doi. 10.1371/journal.pgen.1002965
By:
- Amoasii, Leonela;
- Bertazzi, Dimitri L.;
- Tronchère, Hélène;
- Hnia, Karim;
- Chicanne, Gaëtan;
- Rinaldi, Bruno;
- Cowling, Belinda S.;
- Ferry, Arnaud;
- Klaholz, Bruno;
- Payrastre, Bernard;
- Laporte, Jocelyn;
- Friant, Sylvie
Publication type:
Article
Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models.
Published in:
PLoS Genetics, 2012, v. 8, n. 4, p. 1, doi. 10.1371/journal.pgen.1002595
By:
- Cowling, Belinda S.;
- Toussaint, Anne;
- Muller, Jean;
- Laporte, Jocelyn
Publication type:
Article
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.
Published in:
PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005709
By:
- Arbogast, Thomas;
- Ouagazzal, Abdel-Mouttalib;
- Chevalier, Claire;
- Kopanitsa, Maksym;
- Afinowi, Nurudeen;
- Migliavacca, Eugenia;
- Cowling, Belinda S.;
- Birling, Marie-Christine;
- Champy, Marie-France;
- Reymond, Alexandre;
- Herault, Yann
Publication type:
Article

Found: 19