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Molekulargenetik

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CADASIL Syndrom

NOTCH3

Chorea Huntington

HTT

Chorea Huntington-like (HD-like)

DRPLA (ATN1), HD-like 1 (PRNP), HD-like 2 (JPH3), HD-like 4 (TBP)

Choreatiforme Bewegungsstörung

ADCY5, ARSA, FRRS1L, FTL, GM2A, GNAO1, JPH3, KCNA1, NKX2-1, PRNP, Repeatanalyse: DRPLA (ATN1), Repeatanalyse: HD (HTT), Repeatanalyse: HDlike (JPH3 TBP PRNP), Repeatanalyse: SCA 1, Repeatanalyse: SCA 2, Repeatanalyse: SCA 3, Repeatanalyse: SCA 6, Repeatanalyse: SCA 7, RNF216, VPS13A, XK

Creutzfeldt-Jacob-Krankheit (CJD)

PRNP

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