Author
UCL Queen Square Institute of NeurologyORCID 0009-0008-6955-0904Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
2 papers
Recent·Most cited
Liedewei Van de Vondel, Riccardo Curró, Stefano Facchini…·Andrea Cortese
The paper identifies a CCG expansion in TBC1D7 as a cause of oculopharyngodistal myopathy, showing variable repeat structure and epigenetic regulation.
Jihane Gadacha, Zahraa Haidar, Nathalie Roëckel…·Valérie Delague
This paper identifies bi-allelic mutations in KCTD11 as a cause of autosomal recessive intermediate Charcot-Marie-Tooth disease and elucidates its role in myelin homeostasis through molecular mechanisms.