TY  - GEN
AU  - Lindquist,Suzanne Granhøj
AU  - Møller,Lisbeth Birk
AU  - Dali,Christine I
AU  - Marner,Lisbeth
AU  - Kamsteeg,Erik-Jan
AU  - Nielsen,Jørgen Erik
AU  - Hjermind,Lena Elisabeth
TI  - A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia
SN  - 1473-4230
PY  - 2017///0926
KW  - Brain
KW  - diagnostic imaging
KW  - DNA Mutational Analysis
KW  - Denmark
KW  - Family
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Pedigree
KW  - Phenotype
KW  - Protein Serine-Threonine Kinases
KW  - genetics
KW  - Spinocerebellar Ataxias
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s12311-016-0786-9
ER  -