Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&amp;gt;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

Open source

DOI
10.1093/brain/awaf116
Published
2025-04-03
Container
Brain
Publisher
Oxford University Press (OUP)
Open access
unknown

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BibTeX

@article{allodium:10.1093/brain/awaf116,
  title = {Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C\&amp;gt;T},
  author = {A Reghan Foley and Véronique Bolduc and Fady Guirguis and Sandra Donkervoort and Ying Hu and Rotem Orbach and Riley M McCarty and Apurva Sarathy and Gina Norato and Beryl B Cummings and Monkol Lek and Anna Sarkozy and Russell J Butterfield and Janbernd Kirschner and Andrés Nascimento and Daniel Natera-de Benito and Susana Quijano-Roy and Tanya Stojkovic and Luciano Merlini and Giacomo Comi and Monique Ryan and Denise McDonald and Pinki Munot and Grace Yoon and Edward Leung and Erika Finanger and Meganne E Leach and James Collins and Cuixia Tian and Payam Mohassel and Sarah B Neuhaus and Dimah Saade and Benjamin T Cocanougher and Mary-Lynn Chu and Mena Scavina and Carla Grosmann and Randal Richardson and Brian D Kossak and Sidney M Gospe and Vikram Bhise and Gita Taurina and Baiba Lace and Monica Troncoso and Mordechai Shohat and Adel Shalata and Sophelia H S Chan and Manu Jokela and Johanna Palmio and Göknur Haliloğlu and Cristina Jou and Corine Gartioux and Herimela Solomon-Degefa and Carolin D Freiburg and Alvise Schiavinato and Haiyan Zhou and Sara Aguti and Yoram Nevo and Ichizo Nishino and Cecilia Jimenez-Mallebrera and Shireen R Lamandé and Valérie Allamand and Francesca Gualandi and Alessandra Ferlini and Daniel G MacArthur and Steve D Wilton and Raimund Wagener and Enrico Bertini and Francesco Muntoni and Carsten G Bönnemann},
  year = {2025},
  journal = {Brain},
  doi = {10.1093/brain/awaf116},
  url = {https://doi.org/10.1093/brain/awaf116}
}

RIS

TY  - JOUR
TI  - Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&amp;gt;T
AU  - A Reghan Foley
AU  - Véronique Bolduc
AU  - Fady Guirguis
AU  - Sandra Donkervoort
AU  - Ying Hu
AU  - Rotem Orbach
AU  - Riley M McCarty
AU  - Apurva Sarathy
AU  - Gina Norato
AU  - Beryl B Cummings
AU  - Monkol Lek
AU  - Anna Sarkozy
AU  - Russell J Butterfield
AU  - Janbernd Kirschner
AU  - Andrés Nascimento
AU  - Daniel Natera-de Benito
AU  - Susana Quijano-Roy
AU  - Tanya Stojkovic
AU  - Luciano Merlini
AU  - Giacomo Comi
AU  - Monique Ryan
AU  - Denise McDonald
AU  - Pinki Munot
AU  - Grace Yoon
AU  - Edward Leung
AU  - Erika Finanger
AU  - Meganne E Leach
AU  - James Collins
AU  - Cuixia Tian
AU  - Payam Mohassel
AU  - Sarah B Neuhaus
AU  - Dimah Saade
AU  - Benjamin T Cocanougher
AU  - Mary-Lynn Chu
AU  - Mena Scavina
AU  - Carla Grosmann
AU  - Randal Richardson
AU  - Brian D Kossak
AU  - Sidney M Gospe
AU  - Vikram Bhise
AU  - Gita Taurina
AU  - Baiba Lace
AU  - Monica Troncoso
AU  - Mordechai Shohat
AU  - Adel Shalata
AU  - Sophelia H S Chan
AU  - Manu Jokela
AU  - Johanna Palmio
AU  - Göknur Haliloğlu
AU  - Cristina Jou
AU  - Corine Gartioux
AU  - Herimela Solomon-Degefa
AU  - Carolin D Freiburg
AU  - Alvise Schiavinato
AU  - Haiyan Zhou
AU  - Sara Aguti
AU  - Yoram Nevo
AU  - Ichizo Nishino
AU  - Cecilia Jimenez-Mallebrera
AU  - Shireen R Lamandé
AU  - Valérie Allamand
AU  - Francesca Gualandi
AU  - Alessandra Ferlini
AU  - Daniel G MacArthur
AU  - Steve D Wilton
AU  - Raimund Wagener
AU  - Enrico Bertini
AU  - Francesco Muntoni
AU  - Carsten G Bönnemann
PY  - 2025
JO  - Brain
DO  - 10.1093/brain/awaf116
UR  - https://doi.org/10.1093/brain/awaf116
ER  -

APA

Foley, A. R., Bolduc, V., Guirguis, F., Donkervoort, S., Hu, Y., Orbach, R., McCarty, R. M., Sarathy, A., Norato, G., Cummings, B. B., Lek, M., Sarkozy, A., Butterfield, R. J., Kirschner, J., Nascimento, A., Benito, D. N., Quijano-Roy, S., Stojkovic, T., Merlini, L., Comi, G., Ryan, M., McDonald, D., Munot, P., Yoon, G., Leung, E., Finanger, E., Leach, M. E., Collins, J., Tian, C., Mohassel, P., Neuhaus, S. B., Saade, D., Cocanougher, B. T., Chu, M., Scavina, M., Grosmann, C., Richardson, R., Kossak, B. D., Gospe, S. M., Bhise, V., Taurina, G., Lace, B., Troncoso, M., Shohat, M., Shalata, A., Chan, S. H. S., Jokela, M., Palmio, J., Haliloğlu, G., Jou, C., Gartioux, C., Solomon-Degefa, H., Freiburg, C. D., Schiavinato, A., Zhou, H., Aguti, S., Nevo, Y., Nishino, I., Jimenez-Mallebrera, C., Lamandé, S. R., Allamand, V., Gualandi, F., Ferlini, A., MacArthur, D. G., Wilton, S. D., Wagener, R., Bertini, E., Muntoni, F., & Bönnemann, C. G. (2025). Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&amp;gt;T. Brain. https://doi.org/10.1093/brain/awaf116

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