STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

by Roberto Silva-Rojas, Jocelyn Laporte, Johann Böhm
Published 2020-11-01

Defective membrane remodeling in neuromuscular diseases: insights from animal models.

by Belinda S Cowling, Anne Toussaint, Jean Muller, Jocelyn Laporte
Published 2012-01-01

Integrative data mining highlights candidate genes for monogenic myopathies.

by Osorio Abath Neto, Olivier Tassy, Valérie Biancalana, Edmar Zanoteli, Olivier Pourquié, Jocelyn Laporte
Published 2014-01-01

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

by Olga S Koutsopoulos, Catherine Koch, Valerie Tosch, Johann Böhm, Kathryn N North, Jocelyn Laporte
Published 2011-01-01

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

by Roberto Silva-Rojas, Anne-Laure Charles, Sarah Djeddi, Bernard Geny, Jocelyn Laporte, Johann Böhm
Published 2021-07-01

From dynamic live cell imaging to 3D ultrastructure: novel integrated methods for high pressure freezing and correlative light-electron microscopy.

by Coralie Spiegelhalter, Valérie Tosch, Didier Hentsch, Marc Koch, Pascal Kessler, Yannick Schwab, Jocelyn Laporte
Published 2010-01-01

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.

by Kirsley Chennen, Thomas Weber, Xavière Lornage, Arnaud Kress, Johann Böhm, Julie Thompson, Jocelyn Laporte, Olivier Poch
Published 2020-01-01

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes

by Aymen Rabai, Léa Reisser, Bernardo Reina-San-Martin, Kamel Mamchaoui, Belinda S. Cowling, Anne-Sophie Nicot, Jocelyn Laporte
Published 2019-06-01

VaRank: a simple and powerful tool for ranking genetic variants

by Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller
Published 2015-03-01

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

by Xènia Massana Muñoz, Christine Kretz, Roberto Silva-Rojas, Julien Ochala, Alexia Menuet, Norma B. Romero, Belinda S. Cowling, Jocelyn Laporte
Published 2020-09-01

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

by Hichem Tasfaout, Suzie Buono, Shuling Guo, Christine Kretz, Nadia Messaddeq, Sheri Booten, Sarah Greenlee, Brett P. Monia, Belinda S. Cowling, Jocelyn Laporte
Published 2017-06-01

Silencing of the Charcot–Marie–Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells

by Alexandre Chojnowski, Nicole Ravisé, Corinne Bachelin, Christel Depienne, Merle Ruberg, Bernard Brugg, Jocelyn Laporte, Anne Baron-Van Evercooren, Eric LeGuern
Published 2007-05-01

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

by Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte
Published 2018-09-01

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

by Osorio Abath Neto, Cristiane de Araújo Martins, Mary Carvalho, Gerson Chadi, Katia Werneck Seitz, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Jocelyn Laporte, Edmar Zanoteli
Published 2015-06-01

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

by Leonela Amoasii, Dimitri L Bertazzi, Hélène Tronchère, Karim Hnia, Gaëtan Chicanne, Bruno Rinaldi, Belinda S Cowling, Arnaud Ferry, Bruno Klaholz, Bernard Payrastre, Jocelyn Laporte, Sylvie Friant
Published 2012-01-01

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

by Elinam Gayi, Laurence A. Neff, Xènia Massana Muñoz, Hesham M. Ismail, Marta Sierra, Thomas Mercier, Laurent A. Décosterd, Jocelyn Laporte, Belinda S. Cowling, Olivier M. Dorchies, Leonardo Scapozza
Published 2018-11-01

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

by Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S. Cowling, G. Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Published 2013-06-01

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy.

by Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S. Cowling, G. Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Published 2013-06-01

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

by Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S Cowling, G Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Published 2013-06-01

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy

by Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, Laura Julien, Sofia Benkhelifa‐Ziyyat, Aymen Rabai, Kamel Mamchaoui, Arnaud Ferry, Jocelyn Laporte, Pascale Guicheney, Stéphane Vassilopoulos, Marc Bitoun
Published 2018-02-01