A5013721507- Folate and B Vitamins Research
- Hereditary Neurological Disorders
- Multiple Sclerosis Research Studies
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Neurological and metabolic disorders
- Drug Transport and Resistance Mechanisms
- Liver Diseases and Immunity
- Peripheral Neuropathies and Disorders
- Glaucoma and retinal disorders
- Vitamin K Research Studies
- Cholesterol and Lipid Metabolism
- Alcoholism and Thiamine Deficiency
- Retinal Development and Disorders
- Intraocular Surgery and Lenses
- Trypanosoma species research and implications
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Platelet Disorders and Treatments
- Metabolism and Genetic Disorders
- Autoimmune and Inflammatory Disorders Research
- Psoriasis: Treatment and Pathogenesis
- Reproductive System and Pregnancy
- Cerebral Venous Sinus Thrombosis
Pitié-Salpêtrière Hospital
2019-2025
Sorbonne Université
2019-2025
Humanitas University
2020
Assistance Publique – Hôpitaux de Paris
2020
University of Sassari
2016
Fondazione Istituto Neurologico Nazionale Casimiro Mondino
2014
Objective GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay–Sachs disease [TS]) or HEXB (Sandhoff [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience first symptoms during adolescence/adulthood. This study aims clarify natural history of adult gangliosidosis. Methods We retrospectively described 12 from a French cohort and 45 literature. Results observed 4 typical presentations: (1) lower...
Growing evidence suggests that environmental factors play a key role in the onset of multiple sclerosis (MS). This study was conducted to examine whether may also be associated with evolution disease. We collected data on smoking habits, sunlight exposure and diet (particularly consumption vitamin D-rich foods) from sample 131 MS patients. measured their serum D concentration. The clinical impact quantified using Multiple Sclerosis Severity Score (MSSS); considered "severe" patients MSSS ≥...
Abstract To evaluate the utility of different outcome measures to monitor dose adjustment intravenous immunoglobulin (IVIg) therapy in patients with chronic inflammatory neuropathy (CIN). We assessed IVIg maintenance 20 (10 CIDP and 10 MMN) by regularly monitoring grip strength (GS) using a Martin Vigorimeter, RODS, quality life SF‐36 questionnaire. These were performed patient at home. also extended MRC sumscore (eMRC sumscore) each outpatient visit for infusion. enrolled 30 healthy...
A paradoxical effect of antiepileptic drugs was defined as an increased seizure frequency or severity occurring shortly after introducing a drug considered effective for that kind epilepsy. In addition, this should occur at nontoxic serum levels. So far, pathophysiological mechanisms underlying phenomenon have not been clarified. Recent evidence suggests the variability effects may depend on precise intrinsic properties dynamic networks involving and its binding site. Although several...