Daniele Mandia

ORCID: 0000-0003-4069-0483
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About
Contact & Profiles
Research Areas
  • 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...

10.1002/ana.25689 article EN Annals of Neurology 2020-01-29

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 ≥...

10.3390/ijerph110606417 article EN International Journal of Environmental Research and Public Health 2014-06-19

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...

10.1111/jns.12396 article EN Journal of the Peripheral Nervous System 2020-05-29

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...

10.1097/wnf.0000000000000171 article EN Clinical Neuropharmacology 2016-07-14

10.1016/j.praneu.2024.09.003 article FR Pratique Neurologique - FMC 2024-10-01
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