Abstract
Original language | English |
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Pages (from-to) | 706-724 |
Journal | American Journal of Human Genetics |
Volume | 100 |
Issue number | 5 |
Early online date | 13 Apr 2017 |
DOIs | |
Publication status | Published - 4 May 2017 |
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Dive into the research topics of 'PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins'. Together they form a unique fingerprint.Profiles
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Noor Gammoh
- Deanery of Molecular, Genetic and Population Health Sciences - Reader
- Edinburgh Cancer Research Centre
Person: Academic: Research Active
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Mandy Jackson
- Deanery of Biomedical Sciences - Senior Lecturer
- Centre for Discovery Brain Sciences
- Edinburgh Neuroscience
- Euan MacDonald Centre for Motor Neuron Disease Research
Person: Academic: Research Active
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Ross Jones
- Deanery of Biomedical Sciences - Senior Lecturer
- Centre for Discovery Brain Sciences
- Euan MacDonald Centre for Motor Neuron Disease Research
- Edinburgh Neuroscience - Lecturer in Clinical/Surgical Anatomy
Person: Academic: Research Active