Cécilia Marelli-Tosi

8PUBLICATIONS
77CO-AUTHORS
Neurology and neuromuscular diseasesOptical technologyMedical biochemistry - proteins and peptides (incl. medical proteomics)Molecular targetsMajor global burdens of disease
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (8)

|Jun 15, 2026
Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in CSF1R-Related Disorder.

|Jul 19, 2024
Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.

C Marelli, F Ramond, C Vignal

|Nov 11, 2022
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

Berna Seker Yilmaz, Julien Baruteau, Nur Arslan

|May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.

Cecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist

|Sep 21, 2021
Implication of folate deficiency in CYP2U1 loss of function.

Claire Pujol, Anne Legrand, Livia Parodi

|Oct 22, 2020
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.

Cecilia Marelli, Christian Lavigne, Karolina M Stepien

Pageof 2

Frequent Collaborators

3 joint publications

Fanny Mochel

2 joint publications

Xavier Ayrignac

2 joint publications

Cyril Goizet

2 joint publications

Pierre Labauge