Associated Papers
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A et al.
Hgg Advances, 2025
39663698 (PubMed )
Supplement: mmc3.pdf
Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.
Watanabe N et al.
Journal of Leukocyte Biology, 2021
The ATP Synthase Deficiency in Human Diseases.
Galber C et al.
Life (basel, Switzerland), 2021
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI et al.
Annals of Clinical and Translational Neurology, 2020
Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China.
Zhang BR et al.
Neuroscience Letters, 2010
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Baker M et al.
Nature, 2006
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