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

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

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

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

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

by Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, Andoni Echaniz-Laguna, Sophie Scheidecker, Ros Quinlivan, Michel Fardeau, Edoardo Malfatti, Béatrice Lannes, Caroline Sewry, Norma B. Romero, Jocelyn Laporte, Johann Böhm
Published 2019-08-01

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment

by Parham Habibzadeh, Parham Habibzadeh, Soroor Inaloo, Mohammad Silawi, Hassan Dastsooz, Hassan Dastsooz, Mohammad Ali Farazi Fard, Forough Sadeghipour, Zahra Faghihi, Mohaddeseh Rezaeian, Majid Yavarian, Johann Böhm, Mohammad Ali Faghihi, Mohammad Ali Faghihi
Published 2019-09-01

An integrated diagnosis strategy for congenital myopathies.

by Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B Romero, Jocelyn Laporte
Published 2013-01-01

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

by Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Published 2021-09-01