Jean Jacques Martin

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Jean Jacques



Publications in SciGraph latest 50 shown

  • 2018-12 Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family in ALZHEIMER'S RESEARCH & THERAPY
  • 2018-12 Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration in ALZHEIMER'S RESEARCH & THERAPY
  • 2017-12 No added diagnostic value of non-phosphorylated tau fraction (p-taurel) in CSF as a biomarker for differential dementia diagnosis in ALZHEIMER'S RESEARCH & THERAPY
  • 2017-12 Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-08 The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter in MOLECULAR PSYCHIATRY
  • 2016-08 Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism in LABORATORY INVESTIGATION
  • 2015-12 The monoaminergic footprint of depression and psychosis in dementia with Lewy bodies compared to Alzheimer’s disease in ALZHEIMER'S RESEARCH & THERAPY
  • 2015-12 Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2014-12 Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-09 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration in ACTA NEUROPATHOLOGICA
  • 2014-06 Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis in ACTA NEUROPATHOLOGICA
  • 2013-12 Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy in JOURNAL OF NEUROLOGY
  • 2012-09 The genetics and neuropathology of frontotemporal lobar degeneration in ACTA NEUROPATHOLOGICA
  • 2009-12 Mitochondrial mosaics in the liver of 3 infants with mtDNA defects in BMC CLINICAL PATHOLOGY
  • 2009-09 Lactic Acidosis in a Newborn With Adrenal Calcifications in PEDIATRIC RESEARCH
  • 2006-08 Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 in NATURE
  • 2005-11 Mutations in dynamin 2 cause dominant centronuclear myopathy in NATURE GENETICS
  • 2005-06 Alpha-chemokine receptors CXCR1–3 and their ligands in idiopathic inflammatory myopathies in ACTA NEUROPATHOLOGICA
  • 2004-09 Extracellular protein deposition correlates with glial activation and oxidative stress in Creutzfeldt-Jakob and Alzheimer’s disease in ACTA NEUROPATHOLOGICA
  • 2004-03 Differential diagnosis of 201 possible Creutzfeldt-Jakob disease patients in JOURNAL OF NEUROLOGY
  • 2003-12 Case–control study of environmental risk factors for Parkinson's disease in Belgium in EUROPEAN JOURNAL OF EPIDEMIOLOGY
  • 2003-06 Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA in NEUROMOLECULAR MEDICINE
  • 2003-06 Effects of the oral form of ondansetron on cerebellar dysfunction in JOURNAL OF NEUROLOGY
  • 2003 Loopstoornissen in NEUROLOGIE
  • 2001-07 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions in NATURE GENETICS
  • 2001-04 Detection of cytokines in human sural nerve biopsies: an immunohistochemical and molecular study in ACTA NEUROPATHOLOGICA
  • 2000-05 Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion in JOURNAL OF NEUROLOGY
  • 2000-03 Retrospective study of Creutzfeldt-Jakob disease in Belgium: neuropathological findings in ACTA NEUROPATHOLOGICA
  • 2000-01 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings in EUROPEAN JOURNAL OF PEDIATRICS
  • 1999-06 Detection of β-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren) in ACTA NEUROPATHOLOGICA
  • 1998-12 Mucolipidosis type II with evidence of a novel storage site in VIRCHOWS ARCHIV
  • 1998-09 Inflammatory Pathogenesis of Cortical Polymicrogyria: An Autopsy Study 1 in PEDIATRIC RESEARCH
  • 1998-08 Determination of growth fraction and cell density to evaluate the potential growth of human oligodendroglial and astrocytic tumours in JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
  • 1998-08 Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation in ACTA NEUROPATHOLOGICA
  • 1997-10 Slower recovery of muscle phosphocreatine in malignant hyperthermia-susceptible individuals assessed by 31P-MR spectroscopy in JOURNAL OF NEUROLOGY
  • 1997-01 Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1 in HUMAN GENETICS
  • 1996-01 Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP) in HUMAN GENETICS
  • 1995-07 Postmortem MRI of the brain with neuropathological correlation in NEURORADIOLOGY
  • 1995-05 The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1 in NATURE GENETICS
  • 1995 Semantic Errors and Free Word Associations: Some Remarks on Lexical Search Activity in Stabilized Aphasia in DEVELOPMENTAL AND ACQUIRED DYSLEXIA
  • 1994-12 Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene in HUMAN GENETICS
  • 1994-12 Nerve biopsy findings in Niemann-Pick type II (NPC) in ACTA NEUROPATHOLOGICA
  • 1994-10 On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family in ACTA NEUROPATHOLOGICA
  • 1994-07 Sensitivity and specificity of thallium-201 single-photon emission tomography in the functional detection and differential diagnosis of brain tumours in EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
  • 1992-12 Mapping of a gene predisposing to early–onset Alzheimer's disease to chromosome 14q24.3 in NATURE GENETICS
  • 1992-09 Loss of constitutional heterozygosity in human astrocytomas in ACTA NEUROCHIRURGICA
  • 1992-08 Monoclonal antibodies with selective specificity for Alzheimer Tau are directed against phosphatase-sensitive epitopes in ACTA NEUROPATHOLOGICA
  • 1992-06 Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene in NATURE GENETICS
  • 1991-07 Cerebral ganglioglioma and neurofibromatosis type I in NEURORADIOLOGY
  • 1990-05 Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia in EUROPEAN JOURNAL OF PEDIATRICS
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