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Clinical and Genetic Keys to Cerebellar Ataxia Due to FGF14 GAA Expansions

Jean-Loup Mereaux,Claire-Sophie Davoine,David Pellerin,Giulia Coarelli,Marie Coutelier,Claire Ewenczyk,Marie -Lorraine Monin,Mathieu Anheim,Isabelle Le Ber,Stephane Thobois,Florent Gobert,Lena Guillot-Noel,Sylvie Forlani,Ludmila Jornea,Anna Heinzmann,Aude Sangare,Bertrand Gaymard,Lucie Guyant-Marechal,Perrine Charles,Cecilia Marelli,Jerome Honnorat,Bertrand Degos,Francois Tison,Sophie Sangla,Marion Simonetta-Moreau,Francois Salachas,Maya Tchikviladze,Giovanni Castelnovo,Fanny Mochel,Stephan Klebe,Anna Castrioto,Silvia Fenu,Aurelie Meneret,Frederic Bourdain,Marion Wandzel,Virginie Roth,Celine Bonnet,Florence Riant,Giovanni Stevanin,Sandrine Noel,Anne-Laure Fauret-Amsellem,Melanie Bahlo,Paul J. Lockhart,Bernard Brais,Mathilde Renaud,Alexis Brice,Alexandra Durra

EBIOMEDICINE（2024）

引用 4|浏览15
关键词
SCA27B,Hereditary cerebellar ataxia,GAA expansion,Diagnosis
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