Michael Gonzalez
University of North Carolina at Chapel Hill(US)California University of Pennsylvania(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Mitochondrial Function and Pathology
Most-Cited Works
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy(2015)268 cited
- → PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum(2013)222 cited
- → Gap Junctional Coupling and Patterns of Connexin Expression among Neonatal Rat Lumbar Spinal Motor Neurons(1999)221 cited
- → Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder(2015)204 cited
- → Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia(2012)197 cited
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