Penelope E. Bonnen

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen et al. · Nature Genetics · 1997 · 1.6K citations

Small Polyglutamine Expansions, Neurobiology Of Disease, Molecular Neuroscience +14

Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α

Gonzalo Viana Di Prisco, Wei‐Chien Huang, Shelly A. Buffington et al. · Nature Neuroscience · 2014 · 192 citations · Full text

Psychiatry, Brain Function, Medicine +9

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Penelope E. Bonnen, John W. Yarham, Arnaud Besse et al. · The American Journal of Human Genetics · 2013 · 174 citations · Full text

Mitochondrial Dna Maintenance, Mitophagy, Mitochondrial Function +14

Identification of Variant-Specific Functions of <i>PIK3CA</i> by Rapid Phenotyping of Rare Mutations

Turgut Dogruluk, Yiu Huen Tsang, Maribel Espitia et al. · Cancer Research · 2015 · 174 citations · Full text

Engineering, Genetics, Molecular Genetics +23

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

Arnaud Besse, Ping Chun Wu, Francesco Bruni et al. · Cell Metabolism · 2015 · 162 citations · Full text

Cellular Enzymology, Biochemistry, Mitochondrial Function +7