C. Gartioux - Institut de Myologie, Sorbonne Université

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Characterization of Severe COL6-related Dystrophy Due to the Recurrent Variant COL6A1 C.930+189c>t

A Reghan Foley, Véronique 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,Tanya Stojkovic,Luciano Merlini, Giacomo Comi, Monique Ryan,Denise McDonald, Pinki Munot,Grace Yoon, Edward Leung,Erika 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 Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata, Sophelia H S 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 Bertini,Francesco Muntoni, Carsten G Bönnemann

Brain a journal of neurology (2025)

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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

A Reghan Foley,Véronique 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,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika 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 Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S 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 Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

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A Complex COL6A3 Mutation Identification: It Takes an International Village

Valérie Allamand,Soledad Monges,C. Gartioux,Taratuto Ana Lia,Alix de Becdelièvre,Sandra Donkervoort, Dong Li,Hákon Hákonarson,Olivier Ariste,Élodie Lejeune, Boris Keren, Michael C. Leeson,A. Reghan Foley,Carsten G. Bönnemann,Susana Quijano‐Roy,Corinne Métay,Deborah Watson

openalex（2023）

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Tanya Stojkovic,Marion Masingue,Corinne Metay,Norma B. Romero,Bruno Eymard,Rabah Ben Yaou, Laetitia Rialland,Severine Drunat,Corine Gartioux,Isabelle Nelson,Valerie Allamand,Gisele Bonne,Rocio Nur Villar-Quiles

JOURNAL OF NEUROMUSCULAR DISEASES（2023）

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ECM Characterization in Novel Cellular Models for COL6-RD

D Kourtzas, Rocio Nur Villar Quiles,C. Gartioux,Valérie Allamand

openalex（2023）

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Optimisation du rendement diagnostique des COL6-RM grâce au développement de nouveaux modèles cellulaires

Nur Villar-Quiles,Corinne Métay,C. Gartioux,Tanya Stojkovic,Valérie Allamand

HAL (Le Centre pour la Communication Scientifique Directe) (2022)

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LOXL4 loss-of-function: a novel cause of matrisome-related disease

Enzo Cohen,Isabelle Nelson,C. Gartioux,Maud Beuvin, Zaineb Mezdari,F Roth,Rabah Ben Yaou,Susana Quijano‐Roy,Tanya Stojkovic,Robert‐Yves Carlier,Gisèle Bonne,Valérie Allamand

HAL (Le Centre pour la Communication Scientifique Directe) (2022)

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A Novel COL1A1 Variant in a Family with Clinical Features of Hypermobile Ehlers‐Danlos Syndrome That Proved to Be a COL1‐related Overlap Disorder

Malika Foy,Philippe De Mazancourt,Corinne Metay,Robert Carlier,Valerie Allamand,Corine Gartioux,Fabrice Gillas, Nawel Miri,Valerie Jobic,Ahmed Mekki,Pascale Richard,Caroline Michot,Karelle Benistan

Clinical Case Reports（2021）

引用4浏览0WOS引用

Clinical and Molecular Spectrum Associated With

Journal of Neuromuscular Diseasesno. 4 (2021): 633-645

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