Barbara Garavaglia

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al. · The American Journal of Human Genetics · 2012 · 358 citations · Full text

X-linked Dominant Form, Genetic Disorder, Genetics +8

Age-related Iron Deposition in the Basal Ganglia: Quantitative Analysis in Healthy Subjects

Domenico Aquino, Alberto Bizzi, Marina Grisoli et al. · Radiology · 2009 · 296 citations

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Susan J. Hayflick, Michael C. Kruer, Allison Gregory et al. · Brain · 2013 · 246 citations · Full text

Neurological Disorder, Corticobasal Degeneration, Brain Iron Accumulation +19

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

Daniele Ghezzi, Cécilia Marelli, Alessandro Achilli et al. · European Journal of Human Genetics · 2005 · 206 citations · Full text

Mendelian Disorder, Mitochondrial Function, Genetics +7

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem et al. · The American Journal of Human Genetics · 2004 · 201 citations · Full text

Neurodegenerative Diseases, Mitochondrial Function, Genetic Disorder +11