Michael Gonzalez

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 468 citations · Full text

Genetics, Genetic Epidemiology, Databases +21

Gap Junctional Coupling and Patterns of Connexin Expression among Neonatal Rat Lumbar Spinal Motor Neurons

Qiang Chang, Michael Gonzalez, Martin J. Pinter et al. · Journal of Neuroscience · 1999 · 221 citations · Full text

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço et al. · Brain · 2013 · 221 citations · Full text

Corticobasal Degeneration, Genetics, Pathology +18

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 200 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Christelle Tesson, Magdalena Nawara, Mustafa A. Salih et al. · The American Journal of Human Genetics · 2012 · 196 citations · Full text

Metabolic Syndrome, Energy Metabolism, Metabolic Disorder +9