High Rate of Hypomorphic Variants As the Cause of Inherited Ataxia and Related Diseases: Study of a Cohort of 366 Families
Mehdi Benkirane,Cecilia Marelli,Claire Guissart,Agathe Roubertie, Elizabeth Ollagnon,Ariane Choumert,Frédérique Fluchère,Fabienne Ory Magne,Yosra Halleb,Mathilde Renaud,Lise Larrieu,David Baux,Olivier Patat, Idriss Bousquet,Jean-Marie Ravel,Danielle Cuntz-Shadfar,Catherine Sarret,Xavier Ayrignac,Anne Rolland, Raoul Morales,Morgane Pointaux, Cathy Lieutard-Haag,Brice Laurens, Caroline Tillikete,Emilien Bernard,Martial Mallaret,Clarisse Carra-Dallière,Christine Tranchant,Pierre Meyer,Lena Damaj,Laurent Pasquier,Cecile Acquaviva,Annabelle Chaussenot,Bertrand Isidor,Karine Nguyen,William Camu,Alexandre Eusebio,Nicolas Carrière,Audrey Riquet,Eric Thouvenot, Victoria Gonzales,Emilie Carme,Shahram Attarian,Sylvie Odent,Anna Castrioto,Claire Ewenczyk,Perrine Charles,Laurent Kremer,Samira Sissaoui,Nadia Bahi-buisson,Elsa Kaphan,Adrian Degardin,Bérénice Doray,Sophie Julia,Ganaëlle Remerand,Valerie Fraix,Lydia Abou Haidar,Leila Lazaro,Vincent Laugel,Frederic Villega, Cyril Charlin,Solène Frismand, Marinha Costa Moreira,Tatiana Witjas,Christine Francannet,Ulrike Walther-Louvier,Mélanie Fradin,Brigitte Chabrol,Joel Fluss,Eric Bieth,Giovanni Castelnovo,Sylvain Vergnet,Isabelle Meunier,Alain Verloes,Elise Brischoux-Boucher,Christine Coubes,David Geneviève, Nicolas Lebouc, Jean Phillipe Azulay,Mathieu Anheim,Cyril Goizet,François Rivier,Pierre Labauge,Patrick Calvas,Michel Koenig Genetics in Medicine(2021)
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