A5033917944- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Bladder and Urothelial Cancer Treatments
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Urinary and Genital Oncology Studies
- Lymphoma Diagnosis and Treatment
- Urticaria and Related Conditions
- Colorectal Cancer Treatments and Studies
- Neurological Disorders and Treatments
- Occupational and environmental lung diseases
- Contact Dermatitis and Allergies
- Genetics and Neurodevelopmental Disorders
- Occupational Health and Safety Research
- Helicobacter pylori-related gastroenterology studies
- Gastric Cancer Management and Outcomes
- Drug-Induced Adverse Reactions
- Inflammatory mediators and NSAID effects
- Muscle Physiology and Disorders
- Epigenetics and DNA Methylation
- Stroke Rehabilitation and Recovery
- Temporomandibular Joint Disorders
- Neurology and Historical Studies
- Hereditary Neurological Disorders
CIC Rennes
2023
Hôpital Pontchaillou
2023
Centre Hospitalier Universitaire de Rennes
2017-2022
Université de Rennes
2018-2022
Université de Lille
2021
Centre Hospitalier Guillaume Régnier
2021
Centre Eugène Marquis
2021
Inserm
2021
Newcastle University
2018
University College London
2018
The gene cyclin-dependent kinase inhibitor 2A (CDKN2A) is frequently inactivated by deletion in bladder carcinoma. However, its role tumourigenesis remains unclear. We investigated the of CDKN2A urothelial carcinogenesis, as a function FGFR3 mutation status, marker for one two pathways tumour progression, Ta pathway. studied 288 carcinomas: 177 non-muscle-invasive (123 Ta, 54 T1) and 111 muscle-invasive (T2-4) tumours. copy number was determined multiplex ligation-dependent probe...
To test for cerebellar involvement in motor and nonmotor impairments Parkinson disease (PD) to determine patterns of metabolic correlations with supratentorial brain structures, we correlated clinical motor, cognitive, psychiatric scales metabolism.We included 90 patients PD. Motor, domains were assessed, resting-state 18FDG-PET imaging was performed. The scores entered separately into a principal component analysis. We looked between these 3 components metabolism. Furthermore, extracted the...
Translocation t(11;18) is a factor predictive of poor response to treatment gastric marginal zone lymphoma mucosa-associated lymphoid tissue (MALT). We treated 13 patients with t(11;18)-positive MALT the combination rituximab and chlorambucil (nine as first four second line therapy). The was assessed on endoscopy, histology molecular parameters including clonality (median follow-up: 2 years). Macroscopic lesions disappeared in all cases. Histological remission observed 100% at end follow-up....
Helicobacter pylori infection plays a crucial role in the pathogenesis of gastric extranodal marginal zone lymphoma mucosa-associated lymphoid tissue (MALT). However, host response to this is also important development disease. In particular, NADPH oxidases (NOXs) which generate reactive oxygen species are known induce cell damage possibly leading carcinogenesis. We analyze for first time NOX expression series well characterized MALT (GML) patients comparison with controls. Our observation...
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent dystrophies and currently has no treatment. Clinical genetic heterogeneity are main challenges to a full comprehension of physiopathological mechanism. Improving our knowledge FSHD crucial development future therapeutic trials standards care. National registries have been set up this end. The French Registry combines clinical evaluation form (CEF) self-report questionnaire (SRQ), filled out by...
Occupational exposure to polycyclic aromatic hydrocarbons (PAH) is associated with an increased risk of urothelial carcinoma (UC). FGFR3 found mutated in about 70% Ta tumors, which represent the major group at diagnosis. The influence PAH on mutations and whether it related emergence or shaping these not yet known. We investigated occupational frequency spectrum mutations. included 170 primary tumors from five hospitals France. Patients (median age, 64 yr) were interviewed gather data PAH,...
Mirror movements are involuntary of one hand that mirror intentional the other hand. Congenital (CMM) is a rare genetic disorder with autosomal dominant inheritance, in which main neurological manifestation. CMM associated an abnormal decussation corticospinal tract, major motor tract for voluntary movements. RAD51 known to play key role homologous recombination critical function DNA repair. While haploinsufficiency was first proposed explain CMM, mechanisms could be involved.We performed...
Homozygous LCDmut develop neurodegenerative phenotypes including a) decreased grip strength and b) muscle force, together with c) reduced number of surviving motor units d) positive p62 inclusions in the spinal cord Conclusion: Mutation-induced gain splicing function TDP43 is sufficient to cause neurodegeneration could constitute an early process pathophysiology ALS.