Andrew G L Douglas
- Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
2023/12/16 by Andrew G. L. Douglas, Andrew G L Douglas, Diana Baralle · 14 citations
Medicine · Neuroscience · #Amyotrophic Lateral Sclerosis Research #Neurogenetic and Muscular Disorders Research #Neurological diseases and metabolism
- ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
2022/09/08 by Kari A. Mattison, Kari A Mattison, Gilles Tossing +84 · 17 citations
Biochemistry, Genetics and Molecular Biology · #ATP Synthase and ATPases Research #Mitochondrial Function and Pathology #Ion Transport and Channel Regulation