Barbara Garavaglia

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Paolo Gasparini, Brigitte Vollmer, Massimo Zeviani, 2004, American journal of human genetics.

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Francesco Muntoni, Hanns Lochmüller, Alessandra Renieri, 2014, European Journal of Human Genetics.

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

Daniele Ghezzi, Barbara Garavaglia, A. Albanese, 2015, Front. Genet..

Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects.

Maria Grazia Bruzzone, Alberto Bizzi, Marina Grisoli, 2009, Radiology.

Early onset primary dystonia.

Barbara Garavaglia, N. Nardocci, B. Garavaglia, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The relevance of gender in Parkinson’s disease: a review

Paolo Barone, Marina Picillo, M. T. Pellecchia, 2017, Journal of Neurology.

Iron‐related MRI images in patients with pantothenate kinase–associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial

Alessandra Solari, Barbara Garavaglia, N. Nardocci, 2011, Movement disorders : official journal of the Movement Disorder Society.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Isabella Moroni, John H Livingston, Odile Boespflug-Tanguy, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Deborah Hughes, Christine Klein, Thomas Foltynie, 2015, American journal of human genetics.