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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, Maximilien Porché, Léna Guillot‐Noël, Sabrina Sayah, Anne‐Laure Fauret, Jean‐Philippe Neau, Lucie Guyant‐Maréchal, Didier Deffond, Christine Tranchant, Cyril Goizet, Giulia Coarelli, Anna Castrioto, Stephan Klebe, Claire Ewenczyk, Anna Heinzmann, Perrine Charles, Maya Tchikviladzé, Christine Van Broeckhoven, Alexis Brice, Alexandra Dürr

2022Genetics in Medicine34 citationsDOI

Topics & Concepts

Spinocerebellar ataxiaGeneticsProbandAlleleBiologyMutationGeneGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyCellular transport and secretion
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? | Litcius