Matteo Gorza

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch et al. · Journal of Medical Genetics · 2012 · 185 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

Xiaowu Gai, Daniele Ghezzi, Mark Johnson et al. · The American Journal of Human Genetics · 2013 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido et al. · The American Journal of Human Genetics · 2016 · 120 citations · Full text

Life Sciences, Cell Biology, Neuroscience +12

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Matthis Synofzik, Tobias B. Haack, Robert Kopajtich et al. · The American Journal of Human Genetics · 2014 · 115 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Tobias B. Haack, Matteo Gorza, Katharina Danhauser et al. · Molecular Genetics and Metabolism · 2013 · 66 citations

Life Sciences, Genetics, Molecular Genetics +16