Jean‐Jacques Martin

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Gert Van Goethem, Bart Dermaut, A. Löfgren et al. · Nature Genetics · 2001 · 831 citations

Ocular Disease, Ophthalmology, Genetic Disorder +8

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene

Lydia Hendriks, Cornelia M. van Duijn, Patrick Cras et al. · Nature Genetics · 1992 · 733 citations · Full text

Genetics, Social Sciences, Neurobiology Of Disease +17

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

Peter De Jonghe, Irina Mersivanova, Eva Nelis et al. · Annals of Neurology · 2001 · 204 citations

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets et al. · The American Journal of Human Genetics · 2013 · 165 citations · Full text

Motor Neuron Defects, Neurological Disorder, Degenerative Disease +8

Improved discrimination of autopsy-confirmed Alzheimer's disease (AD) from non-AD dementias using CSF P-tau181P

Karen Koopman, Nathalie Le Bastard, Jean‐Jacques Martin et al. · Neurochemistry International · 2009 · 149 citations

Alzheimer's Disease, Non-ad Dementias, Medicine +10