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Onset features and time to diagnosis in Friedreich’s Ataxia2020 Orphanet Journal of Rare Diseases article Neuroscience Genetic Neurodegenerative Diseases Open access
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, +11 more
67citations -
Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings2024 Therapeutic Advances in Rare Disease article Neuroscience Hearing Loss and Rehabilitation Open access
Johan H. M. Frijns, M. G. S. Geerders, Esther Scholing, Berit M. Verbist, Radboud W. Koot, Martijn J. A. Malessy, +2 more
1citations
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