TY  - GEN
AU  - Vulinovic,Franca
AU  - Lohmann,Katja
AU  - Rakovic,Aleksandar
AU  - Capetian,Philipp
AU  - Alvarez-Fischer,Daniel
AU  - Schmidt,Alexander
AU  - Weißbach,Anne
AU  - Erogullari,Alev
AU  - Kaiser,Frank J
AU  - Wiegers,Karin
AU  - Ferbert,Andreas
AU  - Rolfs,Arndt
AU  - Klein,Christine
AU  - Seibler,Philip
TI  - Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations
SN  - 1098-1004
PY  - 2015///0511
KW  - Adult
KW  - Age of Onset
KW  - Autophagy
KW  - Cell Line
KW  - Dystonia Musculorum Deformans
KW  - diagnosis
KW  - Female
KW  - Gene Frequency
KW  - Humans
KW  - Intracellular Space
KW  - metabolism
KW  - Lysosomes
KW  - Male
KW  - Middle Aged
KW  - Molecular Chaperones
KW  - chemistry
KW  - Mutation
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Protein Multimerization
KW  - Protein Stability
KW  - Protein Transport
KW  - Proteolysis
KW  - Signal Transduction
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.22604
ER  -