Aldo Quattrone

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

E. Sidransky, Mike A. Nalls, Jan Aasly et al. · New England Journal of Medicine · 2009 · 2.1K citations · Full text

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.5K citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mitochondrial Function +9

The challenge of mapping the human connectome based on diffusion tractography

Klaus Maier‐Hein, Peter Neher, Jean-Christophe Houde et al. · Nature Communications · 2017 · 1.4K citations · Full text

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

Alessandra Bolino, M. Muglia, F. L. Conforti et al. · Nature Genetics · 2000 · 457 citations

Myotubularin-related Protein-2, Mendelian Disorder, Genetic Disorder +7

The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy

Andrea Becchetti, Andrea Patrignani, Grazia Annesi et al. · Nature Genetics · 2000 · 446 citations

Neurophysiology, Nicotine, Neurotransmitter +7