Associated Papers
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.
Ogonowski N et al.
Journal of Medical Genetics, 2023
Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.
Huang L et al.
The European Journal of Neuroscience, 2021
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Geier EG et al.
Acta Neuropathologica, 2019
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
30215852 (PubMed )
Supplement: CGE-94-569-s003.xlsx › VUS
[Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients].
Ren SC et al.
Zhonghua Yi Xue Za Zhi, 2016
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