Peer-reviewedLicence not statedGenetics in Medicine
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
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BibTeX
@article{benkirane2026high,
title = {{High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families}},
author = {Mehdi Benkirane and Cecilia Marelli and Claire Guissart and Agathe Roubertie and Elizabeth Ollagnon and Ariane Choumert and Frédérique Fluchère and Fabienne Ory Magne and Yosra Halleb and Mathilde Renaud and Lise Larrieu and David Baux and Olivier Patat and Idriss Bousquet and Jean-Marie Ravel and Danielle Cuntz-Shadfar and Catherine Sarret and Xavier Ayrignac and Anne Rolland and Raoul Morales and Morgane Pointaux and Cathy Lieutard-Haag and Brice Laurens and Caroline Tillikete and Emilien Bernard and Martial Mallaret and Clarisse Carra-Dallière and Christine Tranchant and Pierre Meyer and Lena Damaj and Laurent Pasquier and Cecile Acquaviva and Annabelle Chaussenot and Bertrand Isidor and Karine Nguyen and William Camu and Alexandre Eusebio and Nicolas Carrière and Audrey Riquet and Eric Thouvenot and Victoria Gonzales and Emilie Carme and Shahram Attarian and Sylvie Odent and Anna Castrioto and Claire Ewenczyk and Perrine Charles and Laurent Kremer and Samira Sissaoui and Nadia Bahi-Buisson and Elsa Kaphan and Adrian Degardin and Bérénice Doray and Sophie Julia and Ganaëlle Remerand and Valerie Fraix and Lydia Abou Haidar and Leila Lazaro and Vincent Laugel and Frederic Villega},
journal = {Genetics in Medicine},
year = {2026},
month = oct,
doi = {10.1038/s41436-021-01250-6},
url = {https://hal.umontpellier.fr/hal-05774910v1},
}
RIS
TY - JOUR
TI - High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
AU - Mehdi Benkirane
AU - Cecilia Marelli
AU - Claire Guissart
AU - Agathe Roubertie
AU - Elizabeth Ollagnon
AU - Ariane Choumert
AU - Frédérique Fluchère
AU - Fabienne Ory Magne
AU - Yosra Halleb
AU - Mathilde Renaud
AU - Lise Larrieu
AU - David Baux
AU - Olivier Patat
AU - Idriss Bousquet
AU - Jean-Marie Ravel
AU - Danielle Cuntz-Shadfar
AU - Catherine Sarret
AU - Xavier Ayrignac
AU - Anne Rolland
AU - Raoul Morales
AU - Morgane Pointaux
AU - Cathy Lieutard-Haag
AU - Brice Laurens
AU - Caroline Tillikete
AU - Emilien Bernard
AU - Martial Mallaret
AU - Clarisse Carra-Dallière
AU - Christine Tranchant
AU - Pierre Meyer
AU - Lena Damaj
AU - Laurent Pasquier
AU - Cecile Acquaviva
AU - Annabelle Chaussenot
AU - Bertrand Isidor
AU - Karine Nguyen
AU - William Camu
AU - Alexandre Eusebio
AU - Nicolas Carrière
AU - Audrey Riquet
AU - Eric Thouvenot
AU - Victoria Gonzales
AU - Emilie Carme
AU - Shahram Attarian
AU - Sylvie Odent
AU - Anna Castrioto
AU - Claire Ewenczyk
AU - Perrine Charles
AU - Laurent Kremer
AU - Samira Sissaoui
AU - Nadia Bahi-Buisson
AU - Elsa Kaphan
AU - Adrian Degardin
AU - Bérénice Doray
AU - Sophie Julia
AU - Ganaëlle Remerand
AU - Valerie Fraix
AU - Lydia Abou Haidar
AU - Leila Lazaro
AU - Vincent Laugel
AU - Frederic Villega
PY - 2026
DA - 2026/10/02
JO - Genetics in Medicine
DO - 10.1038/s41436-021-01250-6
UR - https://hal.umontpellier.fr/hal-05774910v1
SN - 1098-3600
SN - 1530-0366
ER -