J.J. Martin

<i>POLG</i> mutations in neurodegenerative disorders with ataxia but no muscle involvement

G. Van Goethem, Petri Luoma, Maria Rantamäki et al. · Neurology · 2004 · 258 citations

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

G. Van Goethem, J.J. Martin, Bart Dermaut et al. · Neuromuscular Disorders · 2003 · 244 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +10

Genetic variability in <i>progranulin</i> contributes to risk for clinically diagnosed Alzheimer disease

Nathalie Brouwers, Kristel Sleegers, Sebastiaan Engelborghs et al. · Neurology · 2008 · 167 citations

Transmission and age‐at‐onset patterns in familial Alzheimer's disease

Lindsay A. Farrer, Richard H. Myers, L. Adrienne Cupples et al. · Neurology · 1990 · 125 citations

Coenzyme Q- responsive Leigh's encephalopathy in two sisters

Lionel Van Maldergem, F. Trijbels, S. DiMauro et al. · 2002 · 102 citations

Mendelian Disorder, Coenzyme Q10, Neurological Disorder +10