High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

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

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Elsevier, Genetics in Medicine, 11(23), p. 2160-2170, 2021

DOI: 10.1038/s41436-021-01250-6

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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Journal article published in 2021 by 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 and other authors.

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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families