Associated Papers
Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.
Göttert R et al.
Stem Cell Research, 2025
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.
Gilani N et al.
Molecular Genetics & Genomic Medicine, 2024
Letter to the Editor: Novel TREM2 frameshift mutation in a 30-year-old woman with suspected frontotemporal dementia.
Buthut M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Genetic landscape of early-onset dementia in Hungary.
Csaban D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Mesaros M et al.
Genes, 2021
35052416 (PubMed )
Supplement: genes-13-00076-s001.zip › genes-1514337-supplementary.pdf
Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease.
Satoh JI et al.
Intractable & Rare Diseases Research, 2016
The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases.
Walter J
The Journal of Biological Chemistry, 2016
Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family.
Numasawa Y et al.
European Journal of Neurology, 2011
A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion.
Nakamagoe K et al.
Internal Medicine (tokyo, Japan), 2011
Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration.
Fenoglio C et al.
Neuroscience Letters, 2007
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