Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
| Autor: | Pellerin, David, Wilke, Carlo, Traschütz, Andreas, Nagy, Sara, Currò, Riccardo, Dicaire, Marie-Josée, Garcia-Moreno, Hector, Anheim, Mathieu, Wirth, Thomas, Faber, Jennifer, Timmann, Dagmar, Depienne, Christel, Rujescu, Dan, Gazulla, José, Reilly, Mary M., Giunti, Paola, Brais, Bernard, Houlden, Henry, Schöls, Ludger, Strupp, Michael |
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| Zdroj: | Journal of Neurology, Neurosurgery & Psychiatry; Feb2024, Vol. 95 Issue 2, p175-179, 5p |
| Databáze: | Complementary Index |
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