L. François

ORCID: 0009-0003-3441-6821
Publications
Citations
Views
---
Saved
---
About
Contact & Profiles
Research Areas
  • Retinal and Optic Conditions
  • Lung Cancer Research Studies
  • Retinal Imaging and Analysis
  • Neuroblastoma Research and Treatments
  • Pituitary Gland Disorders and Treatments
  • Growth Hormone and Insulin-like Growth Factors
  • Neuroendocrine Tumor Research Advances
  • Diet and metabolism studies
  • Biochemical and Molecular Research
  • Cerebral Venous Sinus Thrombosis
  • Muscle metabolism and nutrition
  • Bladder and Urothelial Cancer Treatments
  • melanin and skin pigmentation
  • Epigenetics and DNA Methylation
  • Antioxidant Activity and Oxidative Stress
  • Renal and Vascular Pathologies
  • Retinal Diseases and Treatments
  • Urinary and Genital Oncology Studies
  • Nutrition and Health in Aging
  • Lysosomal Storage Disorders Research
  • Metabolism and Genetic Disorders
  • Glycogen Storage Diseases and Myoclonus
  • Glycosylation and Glycoproteins Research
  • Retinoids in leukemia and cellular processes

Hospices Civils de Lyon
2023-2025

Hôpital Femme Mère Enfant
2025

Institut de Génomique Fonctionnelle de Lyon
2024

Hôpital Louis Pradel
2019-2023

Centre Hospitalier de la Côte Basque
2023

Hôpital Pellegrin
2003

Hôpital Lyon Sud
2003

Hôpital Robert-Debré
1993-1996

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic Farber disease, resulting from recessive ASAH1 variants. Patients present in early childhood muscle weakness anterior horn degeneration and/or drug-resistant epilepsy. Death usually results respiratory complications or status epilepticus during adolescence. We identified 9 patients SMA-PME 5 different families followed neurology, rehabilitation, and genetics...

10.1212/nxg.0000000000200243 article EN Neurology Genetics 2025-02-26

Abstract Background and Aims Despite the demonstrated efficacy of a low-protein diet (LPD) in slowing progression chronic kidney disease (CKD), underlying mechanisms remain inadequately understood. Given potential drawbacks, including poor compliance risk malnutrition, gaining insights into molecular driving these benefits is crucial for safe clinical translation. In this study, our objectives were to 1) assess impact an LPD on metabolic health individuals mice with CKD; 2) investigate...

10.1093/ndt/gfae069.523 article EN other-oa Nephrology Dialysis Transplantation 2024-05-01

10.1016/j.amcp.2023.10.008 article FR publisher-specific-oa Archives des Maladies du Coeur et des Vaisseaux - Pratique 2023-10-30
Coming Soon ...