Ebba Lohmann

Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease

Pablo Ibáñez, A-M Bonnet, Béatrice Debarges et al. · The Lancet · 2004 · 1K citations

Neurodegenerative Diseases, Mendelian Disorder, Familial Parkinson +11

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

Gernot Kleinberger, Yoshinori Yamanishi, Marc Suárez‐Calvet et al. · Science Translational Medicine · 2014 · 805 citations

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Suzanne Lesage, Valérie Drouet, Elisa Majounie et al. · The American Journal of Human Genetics · 2016 · 427 citations · Full text

Cell Autophagy, Mitophagy, Mitochondrial Function +7

Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

Rita Guerreiro, Ebba Lohmann, José Brás et al. · JAMA Neurology · 2013 · 368 citations · Full text

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 311 citations · Full text

Genetics, Neuroscience, Central Nervous System +3