Marzia Bianchi

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 87 citations

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

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

Chiara Aiello, Alessandro Simonati, Giancarlo Discepoli et al. · Human Mutation · 2009 · 70 citations

Genetics, Pathology, Disease Gene Identification +16

Mouse spermine oxidase gene splice variants

Manuela Cervelli, Alessandro Bellini, Marzia Bianchi et al. · European Journal of Biochemistry · 2004 · 65 citations

Infertility, Medicine, Genetics +14

Inhibition of polyamine and spermine oxidases by polyamine analogues

Marzia Bianchi, Fabio Polticelli, Paolo Ascenzi et al. · FEBS Journal · 2006 · 65 citations · Full text

Polyamine Analogues, Biochemistry, Medicine +9