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Mitochondrial m.3243A > G mutation and carotid artery dissection.
Mancuso M, Montano V, Orsucci D, Peverelli L, Caputi L, Gambaro P, Siciliano G, Lamperti C. Mancuso M, et al. Among authors: peverelli l. Mol Genet Metab Rep. 2016 Sep 1;9:12-4. doi: 10.1016/j.ymgmr.2016.08.010. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27656415 Free PMC article.
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
Catania A, Peverelli L, Tabano S, Ghezzi D, Lamperti C. Catania A, et al. Among authors: peverelli l. Neurol Sci. 2019 Sep;40(9):1963-1966. doi: 10.1007/s10072-019-03859-7. Epub 2019 Mar 25. Neurol Sci. 2019. PMID: 30911858 No abstract available.
New missense variants of NDUFA11 associated with late-onset myopathy.
Peverelli L, Legati A, Lamantea E, Nasca A, Lerario A, Galimberti V, Ghezzi D, Lamperti C. Peverelli L, et al. Muscle Nerve. 2019 Aug;60(2):E11-E14. doi: 10.1002/mus.26511. Epub 2019 May 30. Muscle Nerve. 2019. PMID: 31074871 Free article. No abstract available.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Ticci C, Sicca F, Ardissone A, Bertini E, Carelli V, Diodato D, Di Vito L, Filosto M, La Morgia C, Lamperti C, Martinelli D, Moroni I, Musumeci O, Orsucci D, Pancheri E, Peverelli L, Primiano G, Rubegni A, Servidei S, Siciliano G, Simoncini C, Tonin P, Toscano A, Mancuso M, Santorelli FM. Ticci C, et al. Among authors: peverelli l. Neurogenetics. 2020 Apr;21(2):87-96. doi: 10.1007/s10048-019-00601-5. Epub 2020 Jan 3. Neurogenetics. 2020. PMID: 31900734
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F. Caporali L, et al. Among authors: peverelli l. Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21. Ann Neurol. 2020. PMID: 32219868 Free PMC article.
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Peverelli L, Catania A, Marchet S, Ciasca P, Cammarata G, Melzi L, Bellino A, Fancellu R, Lamantea E, Capristo M, Caporali L, La Morgia C, Carelli V, Ghezzi D, Bianchi Marzoli S, Lamperti C. Peverelli L, et al. Front Neurol. 2021 Jun 9;12:657317. doi: 10.3389/fneur.2021.657317. eCollection 2021. Front Neurol. 2021. PMID: 34177762 Free PMC article.
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: peverelli l. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.
35 results