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Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Sci Rep. 2023 Jun 15;13(1):9737. doi: 10.1038/s41598-023-36654-8.
Sci Rep. 2023.
PMID: 37322040
Free PMC article.
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
Hocquel A, Ravel JM, Lambert L, Bonnet C, Banneau G, Kol B, Tissier L, Hopes L, Meyer M, Dillier C, Michaud M, Lardin A, Kaminsky AL, Schmitt E, Liao L, Zhu F, Myriam B, Bossenmeyer-Pourié C, Verger A, Renaud M.
Hocquel A, et al.
Neurogenetics. 2022 Oct;23(4):241-255. doi: 10.1007/s10048-022-00695-4. Epub 2022 Jul 5.
Neurogenetics. 2022.
PMID: 35788923
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