Teresa Rizza

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

Diego Martinelli, Lorena Travaglini, Christian A. Drouin et al. · Brain · 2013 · 154 citations · Full text

Medicine, Molecular Medicine, Pathobiology +16

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

Nunziata Maio, Daniele Ghezzi, Daniela Verrigni et al. · Cell Metabolism · 2015 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Pontocerebellar hypoplasia type 6 caused by mutations in <i>RARS2</i>: definition of the clinical spectrum and molecular findings in five patients

Denise Cassandrini, Maria Roberta Cilio, Marzia Bianchi et al. · Journal of Inherited Metabolic Disease · 2012 · 78 citations

Life Sciences, Genetics, Molecular Genetics +9

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

Daria Diodato, Giorgio Tasca, Daniela Verrigni et al. · European Journal of Human Genetics · 2015 · 69 citations

Medicine, Genetics, Molecular Genetics +14

Mutation analysis in 16 patients with mtDNA depletion

Rosalba Carrozzo, Belén Bornstein, S. Lucioli et al. · Human Mutation · 2003 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17