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Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease.
Parkinsonism Relat Disord
June 2024
Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address:
RAB39B mutations have been identified in X-linked developmental delays. Recently, RAB39B mutations were identified in males with early-onset parkinsonism and intellectual disability. A novel loss-of-function RAB39B mutation was found in a female patient with typical early-onset Parkinson's disease (EOPD).
View Article and Find Full Text PDFNovel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder.
Mov Disord Clin Pract
March 2024
Department of Neurology, Hadassah Medical Center and the Faculty of Medicine, the Hebrew University, Jerusalem, Israel.
Identification of novel biomarkers in obstructive sleep apnea integrated bioinformatics analysis and experimental validation.
PeerJ
December 2023
Beijing Children's Hospital, Department of Respiratory Medicine, Beijing, People's Republic of China.
Background: Obstructive sleep apnea (OSA) is a complex and multi-gene inherited disease caused by both genetic and environmental factors. However, due to the high cost of diagnosis and complex operation, its clinical application is limited. This study aims to explore potential target genes associated with OSA and establish a corresponding diagnostic model.
View Article and Find Full Text PDFNovel RAB39B variant associated intellectual disability and levodopa-responsive young-onset parkinsonism.
Parkinsonism Relat Disord
November 2023
Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Canada; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada. Electronic address:
We report a 37-year-old Caucasian male with history of developmental delay, childhood onset Intellectual Disability (ID) and attention deficit hyperactivity disorder (ADHD) who presented at the age of 34 with tremor-dominant parkinsonism. Next Generation Sequencing (NGS) revealed pathogenic hemizygous sequence variant, c.200G > T, in the RAB39B gene.
View Article and Find Full Text PDFNovel RAB39B mutation (c.309G > A)-related spastic paraparasis: case report.
Acta Neurol Belg
August 2023
Department of Neurology, The Second Affiliated Hospital of Chongqing Medical University, 74 Linjiang Road, Yuzhong District, Chongqing, 400010, China.
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