Assistance Publique Hôpitaux de Paris, INSERM (National Institute of French Research), Paris EST University, France
Education summary
2004 – Medical training, University of Siena, Italy, maxima cum laude.
2005–2007 – Master’s degree in Molecular Neurogenetics (Prof. Massimo Zeviani’s lab), Carlo Besta Institute, Milan, Italy.
2009 – Neurology Specialist, maxima cum laude, University of Siena, Italy.
2013 – PhD, Sorbonne University (Paris 6), Directors: Prof. Thomas Voit and Dr. Norma Romero, Paris, France.
2014 – Postdoctoral fellowship, Prof. Anders Oldfors’s team, Neuropathology Unit, Sahlgrenska Academy, University of Gothenburg, Sweden.
Career summary
I have built my academic career on a strong foundation of genetic, histopathological, and clinical research in neuromuscular disorders.
I trained and worked as clinician and researcher at the Myology Institute in Paris and, since 2021, I have been Full Professor of Neuromuscular Disorders and Myopathology at Université Paris-Est and AP-HP Henri Mondor University Hospital. I currently coordinate the Neuropathology Group of the European Neuromuscular Center (EURO-NMD).
Clinically, I run a transition and adult neuromuscular clinic, following a large cohort of patients with inherited neuromuscular diseases. I serve as National Coordinator of the French Calpainopathies Registry and as Principal Investigator of CALNATHIS, a natural history study on Limb-Girdle Muscular Dystrophy R1 (calpain-related). As a myopathologist, I report over 400 muscle biopsies annually in both pediatric and adult patients, using light and electron microscopy.
Internationally, I pursue collaborative myology and myopathology projects across 15 low-income countries on four continents. In academia, I contribute actively to teaching histology, neuromuscular medicine, and neuropathology to medical students, residents, and clinicians, participating in national and international master’s programmes and specialised courses, including Academyo (Myology Institute) and the Euro-Latin American Summer School of Myology (EVELAM).
Research output: 152 peer-reviewed publications (40% as first, last, or co-last author), H-index 36, ~3,900 citations (Google Scholar), and two book chapters on the evolving role of muscle biopsy in the genetic era.
What is the personal or professional achievement you’re most proud of?
From a medical and human perspective, I experienced a true Eureka moment during my postdoctoral work in Anders Oldfors’ lab. One evening, I realized that six patients with polyglucosan body myopathy all carried the same mutation in the GYG1 gene, which encodes glycogenin-1—thus finally ending their long diagnostic odyssey.
On a more personal note, being recognised by my peers in 2015 with the Young Myologist of the Year Award, presented by Professor Victor Dubowitz, President of the World Muscle Society, during the Society’s annual congress in Brighton, was an unforgettable honour. The excitement I felt was entirely in harmony with the spirit of the “triple-E” society.
Why did you first join the WMS?
I joined the World Muscle Society (WMS) in 2012 as a PhD student, attending the Congress in Perth, Australia, to present my work, engage with cutting-edge science, and build a global network. Since then, I have participated in all 12 subsequent congresses. I have also served as a poster facilitator, session moderator, and debate moderator at WMS 2023 in Charleston. Being part of the WMS has been an immensely rewarding experience, allowing me to grow scientifically and personally, establish numerous collaborations, and embrace the Society’s strong sense of community and family while promoting excellence in science.
What is your goal in joining the Executive Board?
I am eager to represent mid-career researchers in clinical and basic myopathology, especially those exploring novel technologies, on the WMS Board. I am committed to fostering inclusion and diversity and believe my experience and vision can help shape the future of the World Muscle Society.
