Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.

Reply: We now provide the MLPA probe sequences, reference MLPA probes for other genomic regions and size distribution of MLPA probes in the ITPR1 assay in supplementary table

Summary of the clinical data for patients carrying SNCA, VPS35 and LRRK2 Arg1441His mutations identified in this study. SNCA rearrangements SNCA missense

- Cœurs éblouis par tant de grâce, laissez couler vos larmes, petites gouttes salées deviendront par la magie, abracadabra, des petits sucres d’orge au goût

We performed a whole genome expression profiling using lymphoblastoid cell lines (LCLs) from four SCA28 patients and six unrelated healthy controls matched for sex and age..

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Complications which occurred during the follow‑up were related to surgery with one hematoma and two surgical wound infections without prosthesis infection and which did not

The localization of the mycobacterial lipolytic enzymes in the cell wall or at the cell surface, and their involvement in the host cell lipid degradation discussed above

We measured plasma NfL levels in SCA1, SCA2, SCA3, and SCA7 pathological expansion carriers in a longitudinal study and correlated those levels with clinical and imaging markers..