Associated Papers
Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation.
Pieridou C et al.
Frontiers in Endocrinology, 2023
Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.
Malik AU et al.
The Biochemical Journal, 2021
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
Miryounesi M et al.
Annals of Human Genetics, 2020
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