Jean‐Jacques Martin
University of Antwerp(BE)
Publications by Year
Research Areas
Alzheimer's disease research and treatments, Hereditary Neurological Disorders, Neurological diseases and metabolism, Parkinson's Disease Mechanisms and Treatments, Mitochondrial Function and Pathology
Most-Cited Works
- → Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions(2001)833 cited
- → Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene(1992)734 cited
- → Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E(2001)204 cited
- → Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia(2013)169 cited
- → Improved discrimination of autopsy-confirmed Alzheimer's disease (AD) from non-AD dementias using CSF P-tau181P(2009)149 cited
- → TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions(2014)148 cited
- → Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-? concentrations(2000)135 cited
- → Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis(1993)128 cited
- → Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration(2014)115 cited
- → Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores(2008)104 cited