A5094154446- Genetic Neurodegenerative Diseases
- Antimicrobial Resistance in Staphylococcus
- Adipose Tissue and Metabolism
- Streptococcal Infections and Treatments
- DNA Repair Mechanisms
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Liver Disease Diagnosis and Treatment
- Hearing, Cochlea, Tinnitus, Genetics
- Amyotrophic Lateral Sclerosis Research
- Vestibular and auditory disorders
- Coenzyme Q10 studies and effects
- Adipokines, Inflammation, and Metabolic Diseases
- Otolaryngology and Infectious Diseases
- Parkinson's Disease Mechanisms and Treatments
- Neuroscience of respiration and sleep
Centre Hospitalier Universitaire de Lille
2024
Inserm
2024
Université de Lille
2024
Lille Neurosciences & Cognition
2024
Université Libre de Bruxelles
2011-2020
Biallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause late-onset ataxia. Since their first description, phenotypes, neurological damage, and pathogenic variants associated with frequently updated. Here, we review various motifs, genetic variants, phenotypes gene. We searched PubMed for scientific articles published between March 1st, 2019, January 15th, 2024. The motifs are highly heterogeneous, making molecular diagnosis clinical...
Abstract Background Little is known about the impact of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) on cognition. Objective Our objective was to determine frequency and severity cognitive impairment in RFC1 ‐positive patients describe pattern deficits. Methods Participants underwent a comprehensive neuropsychological assessment. Volume cerebellum its lobules measured those who 3 Tesla‐magnetic resonance scan. Results Twenty‐one complete assessment, including 71%...
Caffeine consumption outcomes on Amyotrophic Lateral Sclerosis (ALS) including progression, survival and cognition remain poorly defined may depend its metabolization influenced by genetic variants. 378 ALS patients with a precise evaluation of their regular caffeine were monitored as part prospective multicenter study. Demographic, clinical characteristics, functional disability measured revised Functional Rating Scale (ALSFRS-R), cognitive deficits using Edinburgh Cognitive Behavioural...
Aquaglyceroporin 7 (AQP7) is a glycerol transporter expressed in adipocytes. Its expression has been shown to be modulated obesity. Metabolic syndrome characterized by abdominal obesity, insulin resistance, dyslipidemia, and hypertension. An animal model displaying several features of metabolic was used study the AQP7 at both mRNA protein level flux Second generation <i>n</i>3-PUFA depleted female rats good for as it displays characteristic such liver steatosis, visceral resistance. Our data...