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Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A. Previtali SC, et al. Among authors: pipitone gb. J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1171-1179. doi: 10.1136/jnnp-2019-320717. Epub 2019 Jun 5. J Neurol Neurosurg Psychiatry. 2019. PMID: 31167812 Free article.
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S, Domi T, Pozzi L, Romano A, Pipitone GB, Falzone YM, Mosca L, Penco S, Lunetta C, Sansone V, Tremolizzo L, Fazio R, Agosta F, Filippi M, Carrera P, Riva N, Quattrini A. Scarlino S, et al. Among authors: pipitone gb. Int J Mol Sci. 2020 May 8;21(9):3346. doi: 10.3390/ijms21093346. Int J Mol Sci. 2020. PMID: 32397312 Free PMC article.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A. Cipriani S, et al. Among authors: pipitone gb. Eur J Neurol. 2023 Feb;30(2):511-526. doi: 10.1111/ene.15601. Epub 2022 Nov 21. Eur J Neurol. 2023. PMID: 36260368 Free PMC article.
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G, Sorgente A, Alfano M, Pipitone GB, Boeri L, Pozzi E, Belladelli F, Pederzoli F, Ferrara AM, Montorsi F, Moles A, Carrera P, Salonia A, Casari G. Quarantani G, et al. Among authors: pipitone gb. PLoS One. 2023 Aug 4;18(8):e0288336. doi: 10.1371/journal.pone.0288336. eCollection 2023. PLoS One. 2023. PMID: 37540677 Free PMC article.
14 results