Associated Papers
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Mignogna ML et al.
Human Molecular Genetics, 2022
Dysfunction of RAB39B-Mediated Vesicular Trafficking in Lewy Body Diseases.
Koss DJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
Santoro C et al.
Bmc Neurology, 2020
Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.
Lin HH et al.
Neurobiology of Aging, 2017
RAB39B mutations are a rare finding in Parkinson disease patients.
Löchte T et al.
Parkinsonism & Related Disorders, 2016
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
Mata IF et al.
Molecular Neurodegeneration, 2015
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