@article{202307.1739, doi = {10.20944/preprints202307.1739.v1}, url = {https://doi.org/10.20944/preprints202307.1739.v1}, year = 2023, month = {July}, publisher = {Preprints}, author = {Veria Vacchiano and Flavia Palombo and Danara Ormanbekova and Claudio Fiorini and Alessia Fiorentino and Leonardo Caporali and Andrea Mastrangelo and Maria Lucia Valentino and Sabina Capellari and Rocco Liguori and Valerio Carelli}, title = {The Genetic Puzzle of a SOD1-Patient with Ocular Ptosis and a Motor Neuron Disease: How Many Variants Contribute to the Phenotype?}, journal = {Preprints} }