Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. [electronic resource]
Producer: 20130312Description: 2949.e13-7 p. digitalISSN:- 1558-1497
- Adaptor Proteins, Signal Transducing
- Adult
- Aged
- Aged, 80 and over
- Amyotrophic Lateral Sclerosis -- diagnosis
- Animals
- Autophagy-Related Proteins
- Cell Cycle Proteins -- genetics
- Cohort Studies
- Female
- Frontotemporal Dementia -- diagnosis
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation -- genetics
- Phenotype
- Repetitive Sequences, Amino Acid -- genetics
- Ubiquitins -- genetics
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Publication Type: Journal Article
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