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Clinical Manifestations.
Alzheimers Dement
December 2024
The University of British Columbia, Vancouver, BC, Canada.
Background: Frontotemporal dementia (FTD) presents with heterogeneous neuropsychiatric symptoms (NPS). These symptoms often begin prior to the onset of FTD, and progress throughout the prodromal stages of FTD. Particularly, familial FTD due to autosomal dominant genetic mutations might display mutation-specific NPS profiles.
View Article and Find Full Text PDFProbing Cell-Type Specificity of Mutant Phenotype at Transcriptomic Level Using Mosaic Analysis with Double Markers (MADM).
Methods Mol Biol
January 2025
Institute of Science and Technology Austria (ISTA), Klosterneuburg, Austria.
Mosaic Analysis with Double Markers (MADM) represents a mouse genetic approach coupling differential fluorescent labeling to genetic manipulations in dividing cells and their lineages. MADM uniquely enables the generation and visualization of individual control or homozygous mutant cells in a heterozygous genetic environment. Among its diverse applications, MADM has been used to dissect cell-autonomous gene functions important for cortical development and neural development in general.
View Article and Find Full Text PDFDIVERGENT PRESENTATION OF GRIN2B NEURODEVELOPMENTAL DISORDER IN MONOZYGOTIC TWINS: CASE REPORT WITH UNIQUE IMAGING PHENOTYPES.
Neuropediatrics
December 2024
Great Ormond Street Hospital for Children, London, United Kingdom of Great Britain and Northern Ireland.
We describe a set of monozygotic twins with GRIN2B-related neurodevelopmental disorder (GRIN2B-ND) who exhibited distinct clinical and imaging characteristics due to a de novo heterozygous pathogenic variant in the GRIN2B gene (c.2453T>C, p.Met818Thr).
View Article and Find Full Text PDFUnravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss.
Cerebellum
December 2024
Department of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.
Spinocerebellar ataxias (SCAs) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. This case report details an 11-year-old Indian boy with childhood-onset ataxia and severe sensorineural hearing loss, a rarely reported concomitance in pediatric neurology. Genetic analysis identified a unique heterozygous 3' splice site variant in the PNPT1 gene (c.
View Article and Find Full Text PDFCerebrotendinous xanthomatosis: a literature review and case study.
Front Cardiovasc Med
December 2024
Department of Cardiology, INSERM UMR 1295, Toulouse University Hospital, Toulouse, France.
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes.
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