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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms Huin, Vincent; Barbier, Mathieu; Bottani, Armand; Lobrinus, Johannes Alexander; ... Le Ber, Isabelle 2020
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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis 2011
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Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia Clot, Fabienne; Grabli, David; Cazeneuve, Cecile; Roze, Emmanuel; ... Brice, Alexis 2009