Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia

J Malina, EM Huessler, KH Jöckel… - Orphanet Journal of …, 2024 - Springer
Background Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease that
lacks specific and validated patient-centered outcome measures (PCOMs). We aimed to …

Study on Genotypes and Phenotypes of Neurodegenerative Diseases

C Ricci - Genes, 2024 - mdpi.com
Neurodegenerative diseases are a heterogeneous group of age-related disorders that are
characterised by the gradual degeneration or death of neurons in the central or peripheral …