Kristl G Claeys (T Stojkovic, Tanya Stojkovic)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 26

Top Topics

Coronavirus Disease

Mechanical Ventilation

Top Venues

Journal of the peripheral nervous system : JPNS

medRxiv : the preprint server for health sciences

Neurology. Genetics

International journal of molecular sciences

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

Publications

Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Kristl G Claeys, Françoise Bouhour, Philippe Latour, Nicolas Tricaud
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering. International journal of molecular sciences 25 (8) (2024)
Julian Theuriet, Sheila Marte, Arnaud Isapof, Alix de Becdelièvre, Marina Konyukh, Stephanie M Laureano-Figueroa, Philippe Latour, Isabelle Quadrio, Thierry Maisonobe, Anthony Antonellis, Kristl G Claeys
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS (2024)
Julian Theuriet, Sheila Marte, Arnaud Isapof, Alix de Becdelièvre, Marina Konyukh, Stephanie M Laureano-Figueroa, Philippe Latour, Isabelle Quadrio, Thierry Maisonobe, Anthony Antonellis, Kristl G Claeys
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Edouard Berling, Philippe Latour, Klervie Loiselet, Clément Guémy, Léo Vidoni, Norma B Romero, Emmanuelle Lacene, Teresinha Evangelista, Kristl G Claeys
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases. Neurology. Genetics 10 (5) (2024)
Julian Theuriet, Sheila Marte, Arnaud Isapof, Alix de Becdelièvre, Marina Konyukh, Stephanie M Laureano-Figueroa, Philippe Latour, Isabelle Quadrio, Thierry Maisonobe, Anthony Antonellis, Kristl G Claeys
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS (2024)
Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Kristl G Claeys, Françoise Bouhour, Philippe Latour, Nicolas Tricaud
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering. International journal of molecular sciences 25 (8) (2024)
Julian Theuriet, Sheila Marte, Arnaud Isapof, Alix de Becdelièvre, Marina Konyukh, Stephanie M Laureano-Figueroa, Philippe Latour, Isabelle Quadrio, Thierry Maisonobe, Anthony Antonellis, Kristl G Claeys
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Julian Theuriet, Sheila Marte, Arnaud Isapof, Alix de Becdelièvre, Marina Konyukh, Stephanie M Laureano-Figueroa, Philippe Latour, Isabelle Quadrio, Thierry Maisonobe, Anthony Antonellis, Kristl G Claeys
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Kristl G Claeys, Françoise Bouhour, Philippe Latour, Nicolas Tricaud
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering. International journal of molecular sciences 25 (8) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Edouard Berling, Philippe Latour, Klervie Loiselet, Clément Guémy, Léo Vidoni, Norma B Romero, Emmanuelle Lacene, Teresinha Evangelista, Kristl G Claeys
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases. Neurology. Genetics 10 (5) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, Mondher Chouchane, Andreas Hahn, Gerry Kearns, Dae-Seong Kim, Shin Yun Byun, Cam-Tu Emilie Nguyen, Ulrike Schara-Schmidt, Heike Kölbel, Adela Della Marina, Christiane Schneider-Gold, Kathryn Roefke, Andrea Thieme, Peter Van den Bergh, Gloria Avalos, Rodrigo Álvarez-Velasco, Daniel Natera-de Benito, Man Hin Mark Cheng, Wing Ki Chan, Hoi Shan Wan, Mary Ann Thomas, Lauren Borch, Julie Lauzon, Cornelia Kornblum, Jens Reimann, Andreas Mueller, Thierry Kuntzer, Fiona Norwood, Sithara Ramdas, Leslie W Jacobson, Xiaobo Jie, Miguel A Fernandez-Garcia, Elizabeth Wraige, Ming Lim, Jean Pierre Lin, Kristl G Claeys, Selma Aktas, Maryam Oskoui, Yael Hacohen, Ameneh Masud, M Isabel Leite, Jacqueline Palace, Darryl De Vivo, Angela Vincent, Heinz Jungbluth
The emerging spectrum of foetal acetylcholine receptor antibody-associated disorders (FARAD). Brain : a journal of neurology (2023)
Abdallah Fayssoil, Nicolas Mansencal, Lee S Nguyen, Olivier Nardi, Rabah Ben Yaou, France Leturcq, Helge Amthor, Karim Wahbi, Henri Marc Becane, Frederic Lofaso, Helene Prigent, Guillaume Bassez, Anthony Behin, Kristl G Claeys, Bertrand Fontaine, Denis Duboc, Olivier Dubourg, Bernard Clair, Pascal Laforêt, Djillali Annane, David Orlikowski
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy. Journal of the American Heart Association 12 (16) (2023)
Alexander de Bruyn, Krisztina Einvag, Sonja Holm-Yildiz, Nanna Scharff Poulsen, Tanya Stojkovic, Anthony Behin, Johanna Palmio, Manu Jokela, Jan L De Bleecker, Marianne de Visser, Anneke J van der Kooi, Leroy Ten Dam, Cristina Domínguez González, Lorenzo Maggi, Annamaria Gallone, Anna Kostera-Pruszczyk, Anna Macias, Anna Łusakowska, Velina Nedkova, Montse Olive, Rodrigo Álvarez-Velasco, Julia Wanschitz, Carmen Paradas, Fabiola Mavillard, Giorgia Querin, Gorka Fernández-Eulate, Ros Quinlivan, Maggie C Walter, Christophe E Depuydt, Bjarne Udd, John Vissing, Benedikt Schoser, Kristl G Claeys
Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort. Brain : a journal of neurology (2023)
Marianela Schiava, Chiseko Ikenaga, Ana Topf, Marta Caballero-Ávila, Tsui-Fen Chou, Shan Li, Feng Wang, Jil Daw, Kristl G Claeys, Rocio Villar-Quiles, Ichizo Nishino, Michio Inoue, Yukako Nishimori, Yoshihiko Saito, Masahisa Katsuno, Seiya Noda, Chihiro Ito, Mieko Otsuka, Sruthi Nahir, Georgios Manousakis, David Walk, Colin C Quinn, Lindsay Alfano, Zarife Sahenk, Giorgio Tasca, Mauro Monforte, Mario Sabatelli, Giulia Bisogni, Anders Oldfors, Anna Rydelius, Endre Pál, Carmen Paradas, Beatriz Velez, Jan L De Bleecker, Maria Elena Farugia, Cheryl Longman, Matthew B Harms, Stuart H Ralston, Edmar Zanoteli, Andre Macedo Serafim da Silva, Javier Sotoca, Raul Juntas-Morales, Jorge A Bevilacqua, Mireya Balart, Stuart Talbot, Volker Straub, Michela Guglieri, Chiara Marini-Bettolo, Jordi Diaz-Manera, Conrad Chris Weihl
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurology. Genetics 9 (5) (2023)
Gorka Fernández-Eulate, Julian Theuriet, Christopher J Record, Giorgia Querin, Marion Masingue, Sarah Leonard-Louis, Anthony Behin, Nadine Le Forestier, Antoine Pegat, Maud Michaud, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Celine Tard, Anne-Laure Bedat-Millet, Guilhem Sole, Marco Spinazzi, Emmanuelle Salort-Campana, Andoni Echaniz-Laguna, Vianney Poinsignon, Philippe Latour, Mary M Reilly, Francoise Bouhour, Kristl G Claeys
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy. Neurology. Genetics 9 (4) (2023)
Abdallah Fayssoil, Nicolas Mansencal, Jean Bergounioux, Karim Wahbi, Kristl G Claeys
Cyclic Change in Right and Left Ventricular Systolic and Diastolic Function in Patients with Neuromuscular Disorders on Permanent Mechanical Ventilation. Journal of personalized medicine 12 (10) (2022)
Gorka Fernández-Eulate, Rabab Debs, Thierry Maisonobe, Philippe Latour, Fleur Cohen-Aubart, David Saadoun, Olivier Benveniste, Kristl G Claeys
Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis? Journal of neurology (2022)
Gorka Fernández-Eulate, Giorgia Querin, Ursula Moore, Anthony Behin, Marion Masingue, Guillaume Bassez, Sarah Leonard-Louis, Pascal Laforêt, Thierry Maisonobe, Philippe-Edouard Merle, Marco Spinazzi, Guilhem Solé, Thierry Kuntzer, Anne-Laure Bedat-Millet, Emmanuelle Salort-Campana, Shahram Attarian, Yann Péréon, Leonard Feasson, Julie Graveleau, Aleksandra Nadaj-Pakleza, France Leturcq, Svetlana Gorokhova, Martin Krahn, Bruno Eymard, Volker Straub, null null, Teresinha Evangelista, Kristl G Claeys
Deep phenotyping of an international series of patients with late-onset dysferlinopathy. European journal of neurology 28 (6) (2021)
Raphael Porcher, Isabelle Desguerre, Helge Amthor, Brigitte Chabrol, Frédérique Audic, François Rivier, Arnaud Isapof, Vincent Tiffreau, Emmanuelle Salort-Campana, France Leturcq, Sylvie Tuffery-Giraud, Rabah Ben Yaou, Djillali Annane, Pascal Amédro, Christine Barnerias, Henri Marc Bécane, Anthony Béhin, Damien Bonnet, Guillaume Bassez, Mireille Cossée, Grégoire de La Villéon, Claire Delcourte, Abdallah Fayssoil, Bertrand Fontaine, François Godart, Sophie Guillaumont, Emmanuelle Jaillette, Pascal Laforêt, Sarah Leonard-Louis, Frederic Lofaso, Michele Mayer, Raul Juntas Morales, Christophe Meune, David Orlikowski, Caroline Ovaert, Hélène Prigent, Malika Saadi, Maximilien Sochala, Céline Tard, Guy Vaksmann, Ulrike Walther-Louvier, Bruno Eymard, Kristl G Claeys, Philippe Ravaud, Denis Duboc, Karim Wahbi
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data. European heart journal 42 (20) (2021)
Guilhem Sole, Stéphane Mathis, Diane Friedman, Emmanuelle Salort-Campana, Céline Tard, Françoise Bouhour, Armelle Magot, Djillali Annane, Bernard Clair, Gwendal Le Masson, Antoine Soulages, Fanny Duval, Louis Carla, Marie-Hélène Violleau, Tiphaine Saulnier, Sandrine Segovia-Kueny, Léa Kern, Jean-Christophe Antoine, Guillemette Beaudonnet, Frédérique Audic, Laurent Kremer, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Kristl G Claeys, Pascal Cintas, Marco Spinazzi, Alexandra Foubert-Samier, Shahram Attarian
Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis. Neurology 96 (16) (2021)
Mathieu Cerino, E Campana-Salort, A Salvi, Pascal Cintas, D Renard, R Juntas Morales, Céline Tard, F Leturcq, Kristl G Claeys, Nathalie Bonello-Palot, Svetlana Gorokhova, Jeremie Mortreux, A Maues De Paula, N Lévy, J Pouget, Mireille Cossee, Marc Bartoli, M Krahn, Shahram Attarian
Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathology and applied neurobiology 46 (6) (2020)