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
RAB39B's role in membrane traffic, autophagy, and associated neuropathology.
Tang BL
Journal of Cellular Physiology, 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
New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.
Puschmann A
Current Neurology and Neuroscience Reports, 2017
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Woodbury-Smith M et al.
Molecular Autism, 2017
RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.
Hodges K et al.
Neurobiology of Aging, 2016
Genetics, molecular biology, and phenotypes of x-linked epilepsy.
Deng H et al.
Molecular Neurobiology, 2014
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Giannandrea M et al.
American Journal of Human Genetics, 2010
Select a paper to view details