TY - GEN AU - Löbbe,Anna Mareike AU - Kang,Jun-Suk AU - Hilker,Rüdiger AU - Hackstein,Holger AU - Müller,Ulrich AU - Nolte,Dagmar TI - A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28 SN - 1559-1166 PY - 2014///1125 KW - ATP-Dependent Proteases KW - genetics KW - ATPases Associated with Diverse Cellular Activities KW - Age of Onset KW - Amino Acid Sequence KW - Amino Acid Substitution KW - Disease Progression KW - Family Health KW - Female KW - Genes, Mitochondrial KW - Germany KW - Humans KW - Male KW - Middle Aged KW - Molecular Sequence Data KW - Mutation, Missense KW - Pedigree KW - Phenotype KW - Spinocerebellar Ataxias N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1007/s12031-013-0187-1 ER -