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Archive ouverte | Wirth, Thomas | CCSD

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Archive ouverte | Kim, Christine Y. | CCSD

PPP2R5D-related neurodevelopmental disorder is characterized by a range of neurodevelopmental and behavioral manifestations. We report the association of early-onset parkinsonism with the PPP2R5D p.E200K mutation. Clinical charact...

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Archive ouverte | Ravel, Jean-Marie | CCSD

International audience. Background: STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1 are now...

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