A5082990094- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Rare Diseases
- Nuclear Receptors and Signaling
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Cancer Genomics and Diagnostics
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Congenital limb and hand anomalies
- Neurogenetic and Muscular Disorders Research
- Peptidase Inhibition and Analysis
- Genomics and Chromatin Dynamics
- Molecular Biology Techniques and Applications
- Williams Syndrome Research
- Neurological disorders and treatments
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Lysosomal Storage Disorders Research
- CRISPR and Genetic Engineering
- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Ubiquitin and proteasome pathways
National Institute on Aging
2024-2025
Assistance Publique – Hôpitaux de Paris
2024-2025
Sorbonne Université
2024-2025
Institut du Cerveau
2024-2025
National Institute of Neurological Disorders and Stroke
2025
National Institutes of Health
2025
Centre National de la Recherche Scientifique
2024
Inserm
2024
Hôpital Necker-Enfants Malades
2023
Hôpital Robert-Debré
2023
biallelic pathogenic variants are the most common cause of autosomal recessive early-onset Parkinson's disease (PD). However, responsible for suspected
Abstract A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within gene RFC1 is a frequent cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as rare Parkinson’s disease (PD) Finnish population. Here, we investigate prevalence expansions PD patients non-Finnish European ancestry 1609 individuals from Progression Markers Initiative study. We identified four carrying did not identify any carriers controls.
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes identification potential biomarkers therapeutic targets. Here, we identify
ABSTRACT Objective Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address broad medical ethical issues raised by use of pES women couples as well care providers. Method The Federation Human Genetics established a working group composed clinicians biologists all over France discuss challenges. A literature review was also...
We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data broaden knowledge of antenatal features in these syndromes.We retrospectively recruited unrelated with deletion, known as Williams-Beuren syndrome (WBS), or duplication who had prenatal ultrasound findings. collected laboratory data, ultrasound, cardiac autopsy reports from 18 diagnostic centers throughout France.40 fetuses WBS were the most common intra-uterine growth retardation...
Abstract As part of the GP2 initiative we will generate long-read sequencing data for ~1000 samples to better understand genetic architecture Parkinson's disease. To this large-scale Nanopore have developed a protocol processing and frozen human blood samples, targeting an N50 ~30kb ~30X coverage. †Correspondence to: Kimberley Billingsley billingsleykj@nih.govAcknowledgements:We would like thank team (Jade Bartolo, Olivor Holman, Androo Markham & Jessica Anderson) whole CARD listed below...