All papers authored by Odile Boespflug-Tanguy
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2023
Nathalie Launay 
,
Montserrat Ruiz ,
Laura Planas-Serra ,
Edgard Verdura ,
Agustí Rodríguez-Palmero ,
Agatha Schlüter,
Leire Goicoechea ,
Cristina Guilera ,
Josefina Casas ,
Felix Campelo ,
Emmanuelle Jouanguy,
Jean-Laurent Casanova ,
Odile Boespflug-Tanguy ,
Maria Vazquez Cancela,
Luis González Gutiérrez-Solana
and 3 other authors
,
Montserrat Ruiz ,
Laura Planas-Serra ,
Edgard Verdura ,
Agustí Rodríguez-Palmero ,
Agatha Schlüter,
Leire Goicoechea ,
Cristina Guilera ,
Josefina Casas ,
Felix Campelo ,
Emmanuelle Jouanguy,
Jean-Laurent Casanova ,
Odile Boespflug-Tanguy ,
Maria Vazquez Cancela,
Luis González Gutiérrez-Solana
and 3 other authors
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
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Justine Fraize ,
Clara Fischer,
Monique Elmaleh‐Bergès ,
Eliot Kerdreux ,
Anita Beggiato ,
Alexandra Ntorkou ,
Edouard Duchesnay ,
Dhaif Bekha,
Odile Boespflug‐Tanguy ,
Richard Delorme ,
Lucie Hertz‐Pannier ,
David Germanaud
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,
Clara Fischer,
Monique Elmaleh‐Bergès ,
Eliot Kerdreux ,
Anita Beggiato ,
Alexandra Ntorkou ,
Edouard Duchesnay ,
Dhaif Bekha,
Odile Boespflug‐Tanguy ,
Richard Delorme ,
Lucie Hertz‐Pannier ,
David Germanaud
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2019
L. Saint-Val ,
T. Courtin ,
P. Charles ,
C. Verny ,
M. Catala ,
R. Schiffmann ,
O. Boespflug-Tanguy ,
F. Mochel
,
T. Courtin ,
P. Charles ,
C. Verny ,
M. Catala ,
R. Schiffmann ,
O. Boespflug-Tanguy ,
F. Mochel
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
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Devesh C. Pant ,
Nara Lygia de M. Sobreira,
Imen Dorboz,
Agatha Schluter,
Stéphane Fourcade,
Nathalie Launay,
Javier Joya,
Sergio Aguilera-Albesa ,
Maria Eugenia Yoldi,
Carlos Casasnovas,
Mary J. Willis,
Montserrat Ruiz ,
Dorothée Ville,
Gaetan Lesca ,
Karine Siquier-Pernet
and 31 other authors
,
Nara Lygia de M. Sobreira,
Imen Dorboz,
Agatha Schluter,
Stéphane Fourcade,
Nathalie Launay,
Javier Joya,
Sergio Aguilera-Albesa ,
Maria Eugenia Yoldi,
Carlos Casasnovas,
Mary J. Willis,
Montserrat Ruiz ,
Dorothée Ville,
Gaetan Lesca ,
Karine Siquier-Pernet
and 31 other authors
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
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