Identification of predictors of response to Erenumab in a cohort of patients with migraine

by Houssein Salem-Abdou, David Simonyan, Jack Puymirat
Published 2021-06-01

Lymphoblastoids cell lines – Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the DMPK gene: CHUQi001-A

by Laurie Martineau, Véronique Racine, Siham Ait Benichou, Jack Puymirat
Published 2018-01-01

Implication of SPARC in the modulation of the extracellular matrix and mitochondrial function in muscle cells.

by Aicha Melouane, Antoine Carbonell, Mayumi Yoshioka, Jack Puymirat, Jonny St-Amand
Published 2018-01-01

Abnormal prostaglandin E2 production blocks myogenic differentiation in myotonic dystrophy

by Daniel Beaulieu, Philippe Thebault, Richard Pelletier, Pierre Chapdelaine, Mark Tarnopolsky, Denis Furling, Jack Puymirat
Published 2012-01-01

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene

by Mbarka Bchetnia, Laurie Martineau, Véronique Racine, Julie Powell, Catherine McCuaig, Jack Puymirat, Catherine Laprise
Published 2020-04-01

iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities

by Hugo Poulin, Aurélie Mercier, Mohammed Djemai, Valérie Pouliot, Isabelle Deschenes, Mohamed Boutjdir, Jack Puymirat, Mohamed Chahine
Published 2021-01-01

Absence of a differentiation defect in muscle satellite cells from DM2 patients

by Richard Pelletier, Frederic Hamel, Daniel Beaulieu, Lysanne Patry, Caroline Haineault, Mark Tarnopolsky, Benedikt Schoser, Jack Puymirat
Published 2009-10-01

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

by Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, the Filnemus Myotonic Dystrophy Study Group, Dalil Hamroun, Guillaume Bassez
Published 2019-06-01

RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1.

by Roscoe Klinck, Angélique Fourrier, Philippe Thibault, Johanne Toutant, Mathieu Durand, Elvy Lapointe, Marie-Laure Caillet-Boudin, Nicolas Sergeant, Geneviève Gourdon, Giovanni Meola, Denis Furling, Jack Puymirat, Benoit Chabot
Published 2014-01-01

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

by Dominic Jauvin, Jessina Chrétien, Sanjay K. Pandey, Laurie Martineau, Lucille Revillod, Guillaume Bassez, Aline Lachon, A. Robert McLeod, Geneviève Gourdon, Thurman M. Wheeler, Charles A. Thornton, C. Frank Bennett, Jack Puymirat
Published 2017-06-01

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.

by Adam Kurkiewicz, Anneli Cooper, Emily McIlwaine, Sarah A Cumming, Berit Adam, Ralf Krahe, Jack Puymirat, Benedikt Schoser, Lubov Timchenko, Tetsuo Ashizawa, Charles A Thornton, Simon Rogers, John D McClure, Darren G Monckton
Published 2020-01-01

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.

by Aline Huguet, Fadia Medja, Annie Nicole, Alban Vignaud, Céline Guiraud-Dogan, Arnaud Ferry, Valérie Decostre, Jean-Yves Hogrel, Friedrich Metzger, Andreas Hoeflich, Martin Baraibar, Mário Gomes-Pereira, Jack Puymirat, Guillaume Bassez, Denis Furling, Arnold Munnich, Geneviève Gourdon
Published 2012-01-01

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

by Ludovic Arandel, Micaela Polay Espinoza, Magdalena Matloka, Audrey Bazinet, Damily De Dea Diniz, Naïra Naouar, Frédérique Rau, Arnaud Jollet, Frédérique Edom-Vovard, Kamel Mamchaoui, Mark Tarnopolsky, Jack Puymirat, Christophe Battail, Anne Boland, Jean-Francois Deleuze, Vincent Mouly, Arnaud F. Klein, Denis Furling
Published 2017-04-01

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

by Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, Fernande Freyermuth, Angeline Gaucherot, Frank Ruffenach, Partha Sarkar, Jack Puymirat, Bjarne Udd, John W. Day, Giovanni Meola, Guillaume Bassez, Harutoshi Fujimura, Masanori P. Takahashi, Benedikt Schoser, Denis Furling, Ruben Artero, Frédéric H. T. Allain, Beatriz Llamusi, Nicolas Charlet-Berguerand
Published 2018-05-01

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

by Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jordi Díaz-Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
Published 2019-08-01

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

by Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
Published 2018-09-01

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

by Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
Published 2016-01-01