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Reduced Penetrance of an Eastern French Mutation in ATL1 Autosomal-Dominant Inheritance (SPG3A): Extended Phenotypic Spectrum Coupled with Brain 18F-FDG PET

Armand Hocquel,Jean-Marie Ravel,Laetitia Lambert,Celine Bonnet,Guillaume Banneau,Bophara Kol,Laurene Tissier,Lucie Hopes,Mylene Meyer, Celine Dillier,Maud Michaud, Arnaud Lardin,Anne-Laure Kaminsky,Emmanuelle Schmitt,Liang Liao,Francois Zhu,Bronner Myriam,Carine Bossenmeyer-Pourie,Antoine Verger,Mathilde Renaud

NEUROGENETICS（2022）

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关键词
Hereditary spastic paraplegias,ATL1,SPG3A,Cerebellar hypometabolism,Dysexecutive syndrome,Small fibre neuropathy
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