Jocelyn Laporte

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 35

Top Venues

Nature genetics

eLife

Communications biology

Genome medicine

Institut de Génétique et de Biologie Moléculaire et Cellulaire

University of Strasbourg (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Institut de Génétique et de Biologie Moléculaire et Cellulaire Dec 01 1993

France

Team leader :: Translational Medicine and Neurogenetics

Education History

University of Strasbourg Dec 01 1993 - Nov 24 1997

France

PHD

Publications

Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics (2024)
Laura Picas, Charlotte André-Arpin, Franck Comunale, Hugo Bousquet, Feng-Ching Tsai, Felix Rico, Paolo Maiuri, Julien Pernier, Stéphane Bodin, Anne-Sophie Nicot, Jocelyn Laporte, Patricia Bassereau, Bruno Goud, Cécile Gauthier-Rouvière, Stéphanie Miserey-Lenkei
BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation. Communications biology 7 (1) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Laura Picas, Charlotte André-Arpin, Franck Comunale, Hugo Bousquet, Feng-Ching Tsai, Felix Rico, Paolo Maiuri, Julien Pernier, Stéphane Bodin, Anne-Sophie Nicot, Jocelyn Laporte, Patricia Bassereau, Bruno Goud, Cécile Gauthier-Rouvière, Stéphanie Miserey-Lenkei
BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation. Communications biology 7 (1) (2024)
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. Genome medicine 16 (1) (2024)
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. Genome medicine 16 (1) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. Genome medicine 16 (1) (2024)
Boglarka Zambo, Evelina Edelweiss, Bastien Morlet, Luc Negroni, Matyas Pajkos, Zsuzsanna Dosztanyi, Soren Ostergaard, Gilles Trave, Jocelyn Laporte, Gergő Gógl
Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy. eLife 13 (2024)
Boglarka Zambo, Evelina Edelweiss, Bastien Morlet, Luc Negroni, Matyas Pajkos, Zsuzsanna Dosztanyi, Soren Ostergaard, Gilles Trave, Jocelyn Laporte, Gergő Gógl
Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy. eLife 13 (2024)
Boglarka Zambo, Evelina Edelweiss, Bastien Morlet, Luc Negroni, Matyas Pajkos, Zsuzsanna Dosztanyi, Soren Ostergaard, Gilles Trave, Jocelyn Laporte, Gergő Gógl
Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy. eLife 13 (2024)
Boglarka Zambo, Evelina Edelweiss, Bastien Morlet, Luc Negroni, Matyas Pajkos, Zsuzsanna Dosztanyi, Soren Ostergaard, Gilles Trave, Jocelyn Laporte, Gergő Gógl
Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy. eLife 13 (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Laura Picas, Charlotte André-Arpin, Franck Comunale, Hugo Bousquet, Feng-Ching Tsai, Felix Rico, Paolo Maiuri, Julien Pernier, Stéphane Bodin, Anne-Sophie Nicot, Jocelyn Laporte, Patricia Bassereau, Bruno Goud, Cécile Gauthier-Rouvière, Stéphanie Miserey-Lenkei
BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation. Communications biology 7 (1) (2024)
Laura Picas, Charlotte André-Arpin, Franck Comunale, Hugo Bousquet, Feng-Ching Tsai, Felix Rico, Paolo Maiuri, Julien Pernier, Stéphane Bodin, Anne-Sophie Nicot, Jocelyn Laporte, Patricia Bassereau, Bruno Goud, Cécile Gauthier-Rouvière, Stéphanie Miserey-Lenkei
BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation. Communications biology 7 (1) (2024)
Quentin Giraud, Coralie Spiegelhalter, Nadia Messaddeq, Jocelyn Laporte
MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy. Brain : a journal of neurology (2023)
Paula Samsó, Philipp Alexander Koch, York Posor, Wen-Ting Lo, Hassane Belabed, Marc Nazare, Jocelyn Laporte, Volker Haucke
Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model. Proceedings of the National Academy of Sciences of the United States of America 119 (40) (2022)
Suzie Buono, Arnaud Monseur, Alexia Menuet, Anne Robé, Catherine Koch, Jocelyn Laporte, Leen Thielemans, Marion Depla, Belinda S Cowling
Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy. Disease models & mechanisms 15 (7) (2022)
Roberto Silva-Rojas, Laura Pérez-Guàrdia, Emma Lafabrie, David Moulaert, Jocelyn Laporte, Johann Böhm
Silencing of the Ca 2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice. International journal of molecular sciences 23 (13) (2022)
Raquel Gómez-Oca, Evelina Edelweiss, Sarah Djeddi, Mathias Gerbier, Xènia Massana-Muñoz, Mustapha Oulad-Abdelghani, Corinne Crucifix, Coralie Spiegelhalter, Nadia Messaddeq, Pierre Poussin-Courmontagne, Pascale Koebel, Belinda S Cowling, Jocelyn Laporte
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy. Nature communications 13 (1) (2022)
Charlotte Gineste, Alix Simon, Marie Braun, David Reiss, Jocelyn Laporte
Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies. Brain : a journal of neurology (2022)
Johann Böhm, Inès Barthélémy, Charlène Landwerlin, Nicolas Blanchard-Gutton, Frederic Relaix, Stéphane Blot, Jocelyn Laporte, Laurent Tiret
A dog model for centronuclear myopathy carrying the most common DNM2 mutation. Disease models & mechanisms 15 (4) (2022)
Valentina Maria Lionello, Christine Kretz, Evelina Edelweiss, Corinne Crucifix, Raquel Gómez-Oca, Nadia Messaddeq, Suzie Buono, Pascale Koebel, Xènia Massana Muñoz, Nadège Diedhiou, Belinda S Cowling, Marc Bitoun, Jocelyn Laporte
BIN1 modulation in vivo rescues dynamin-related myopathy. Proceedings of the National Academy of Sciences of the United States of America 119 (9) (2022)
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bonnemann, J Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature communications 13 (1) (2022)
Raquel Gómez-Oca, Belinda S Cowling, Jocelyn Laporte
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances. International journal of molecular sciences 22 (21) (2021)
Roberto Silva-Rojas, Anne-Laure Charles, Sarah Djeddi, Bernard Geny, Jocelyn Laporte, Johann Böhm
Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure. Cells 10 (7) (2021)
Georges Arielle Peche, Coralie Spiegelhalter, Roberto Silva-Rojas, Jocelyn Laporte, Johann Böhm
Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome. Neuropathology : official journal of the Japanese Society of Neuropathology 40 (6) (2020)
A Reghan Foley, Yaqun Zou, James E Dunford, Jachinta Rooney, Goutam Chandra, Hui Xiong, Volker Straub, Thomas Voit, Norma Romero, Sandra Donkervoort, Ying Hu, Thomas Markello, Adam Horn, Leila Qebibo, Jahannaz Dastgir, Katherine G Meilleur, Richard S Finkel, Yanbin Fan, Kamel Mamchaoui, Stephanie Duguez, Isabelle Nelson, Jocelyn Laporte, Mariarita Santi, Edoardo Malfatti, Thierry Maisonobe, Philippe Touraine, Michio Hirano, Imelda Hughes, Kate Bushby, Udo Oppermann, Johann Böhm, Jyoti K Jaiswal, Tanya Stojkovic, Carsten G Bonnemann
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Annals of neurology 88 (2) (2020)
Valentina Maria Lionello, Anne-Sophie Nicot, Maxime Sartori, Christine Kretz, Pascal Kessler, Suzie Buono, Sarah Djerroud, Nadia Messaddeq, Pascale Koebel, Ivana Prokic, Yann Hérault, Norma B Romero, Jocelyn Laporte, Belinda S Cowling
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice. Science translational medicine 11 (484) (2020)
Andoni Echaniz-Laguna, Xavière Lornage, Pascal Laforêt, Mette C Orngreen, Evelina Edelweiss, Guy Brochier, Mai T Bui, Roberto Silva-Rojas, Catherine Birck, Béatrice Lannes, Norma B Romero, John Vissing, Jocelyn Laporte, Johann Böhm
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. Annals of neurology 88 (2) (2020)
Ivana Prokic, Belinda S Cowling, Candice Kutchukian, Christine Kretz, Hichem Tasfaout, Vincent Gache, Josiane Hergueux, Olivia Wendling, Arnaud Ferry, Anne Toussaint, Christos Gavriilidis, Vasugi Nattarayan, Catherine Koch, Jeanne Lainé, Roy Combe, Laurent Tiret, Vincent Jacquemond, Fanny Pilot-Storck, Jocelyn Laporte
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration. Disease models & mechanisms 13 (11) (2020)
Gilles Morin, Valérie Biancalana, Andoni Echaniz-Laguna, Jean-Baptiste Noury, Xavière Lornage, Maurizio Moggio, Michela Ripolone, Raffaella Violano, Pascale Marcorelles, Denis Maréchal, Florence Renaud, Claude-Alain Maurage, Céline Tard, Jean-Marie Cuisset, Jocelyn Laporte, Johann Böhm
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. Human mutation 41 (1) (2019)

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Jocelyn Laporte