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GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Galosi S, Novelli M, Di Rocco M, Flex E, Messina E, Pollini L, Parrini E, Pisani F, Guerrini R, Leuzzi V, Martinelli S. Galosi S, et al. Among authors: novelli m. Mov Disord. 2023 Dec;38(12):2313-2314. doi: 10.1002/mds.29585. Epub 2023 Aug 26. Mov Disord. 2023. PMID: 37632268 No abstract available.
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.
Mero S, Salviati L, Leuzzi V, Rubegni A, Calderan C, Nardecchia F, Galatolo D, Desbats MA, Naef V, Gemignani F, Novelli M, Tessa A, Battini R, Santorelli FM, Marchese M. Mero S, et al. Among authors: novelli m. J Neurol. 2021 Sep;268(9):3381-3389. doi: 10.1007/s00415-021-10509-6. Epub 2021 Mar 11. J Neurol. 2021. PMID: 33704555
421 results