Cécilia Marelli-Tosi (C Marelli, Cecilia Marelli)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 6

Top Topics

End Stage Renal Disease

Diffusion Weighted Imaging

Duchenne Muscular Dystrophy

Top Venues

Journal of inherited metabolic disease

Journal of neurology

The Journal of experimental medicine

Life (Basel, Switzerland)

This page only lists publications with an associated author ORCID identifier.

Publications

Cécilia Marelli-Tosi, F Ramond, C Vignal, C Blanchet, S Frost, Q Hao, B Bocquet, Y Nadjar, N Leboucq, G Taieb, M Benkirane, C Hersent, M Koenig, I Meunier
Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia. Journal of neurology (2024)
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cécilia Marelli-Tosi, Helen Mundy, Siobhan O'Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M Stępień, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency. Life (Basel, Switzerland) 12 (11) (2022)
Cécilia Marelli-Tosi, Alain Fouilhoux, Jean-Francois Benoist, Pascale De Lonlay, Nathalie Guffon-Fouilhoux, Anais Brassier, Aline Cano, Brigitte Chabrol, Alessandra Pennisi, Manuel Schiff, Cecile Acquaviva, Elaine Murphy, Aude Servais, Robin Lachmann
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia. Journal of inherited metabolic disease 45 (5) (2022)
Claire Pujol, Anne Legrand, Livia Parodi, Priscilla Thomas, Fanny Mochel, Dario Saracino, Giulia Coarelli, Marijana Croon, Milica Popovic, Manon Valet, Nicolas Villain, Shahira Elshafie, Mahmoud Y Issa, Stéphane Zuily, Mathilde Renaud, Cécilia Marelli-Tosi, Marine Legendre, Aurélien Trimouille, Isabelle Kemlin, Sophie Mathieu, Joseph G Gleeson, Foudil Lamari, Daniele Galatolo, Rana Alkouri, Chantal Tse, Diana Rodriguez, Claire Ewenczyk, Florence Fellmann, Thierry Kuntzer, Emilie Blond, Khalid Hamid El Hachimi, Frédéric Darios, Alexandre Seyer, Anastasia D Gazi, Patrick Giavalisco, Silvina Perin, Jean-Luc Boucher, Laurent Le Corre, Filippo Maria Santorelli, Cyril Goizet, Maha Saad Zaki, Serge Picaud, Arnaud Mourier, Sophie Marie Steculorum, Mignot Cyril, Alexandra Dürr, Aleksandra Trifunovic, Giovanni Stevanin
Implication of folate deficiency in CYP2U1 loss of function. The Journal of experimental medicine 218 (11) (2021)
Cécilia Marelli-Tosi, Christian Lavigne, Karolina M Stepien, Mirian C H Janssen, Francois Feillet, Viktor Kožich, Pavel Jesina, Rebecca Schule, Christoph Kessler, Isabelle Redonnet-Vernhet, Adeline Regnier, Patricie Burda, Matthias Baumgartner, Jean-Francois Benoist, Martina Huemer, Fanny Mochel, null null
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency. Journal of inherited metabolic disease 44 (3) (2020)
Pekes Codjia, Xavier Ayrignac, Fanny Mochel, Kevin Mouzat, Clarisse Carra Dallière, Giovanni Castelnovo, E Ellie, F Etcharry-Bouyx, C Verny, S Belliard, D Hannequin, Cécilia Marelli-Tosi, Yann Nadjar, Isabelle L E Ber, I Dorboz, S Samaan, Odile Boespflug-Tanguy, S Lumbroso, Pierre M Labauge
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases. AJNR. American journal of neuroradiology 39 (9) (2018)