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R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini ML, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V. Catania A, et al. Neurogenetics. 2018 Aug;19(3):179-187. doi: 10.1007/s10048-018-0552-x. Epub 2018 Jul 3. Neurogenetics. 2018. PMID: 29971521
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. 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.
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.
Pareyson D, Pantaleoni C, Eleopra R, De Filippis G, Moroni I, Freri E, Zibordi F, Bulgheroni S, Pagliano E, Sarti D, Silvani A, Grazzi L, Tiraboschi P, Didato G, Anghileri E, Bersano A, Valentini L, Piacentini S, Muscio C, Leonardi M, Mariotti C, Eoli M, Nuzzo S, Tagliavini F, Confalonieri P, De Giorgi F; Besta-Telehealth Task Force. Pareyson D, et al. Neurol Sci. 2021 Jul;42(7):2637-2644. doi: 10.1007/s10072-021-05252-9. Epub 2021 Apr 30. Neurol Sci. 2021. PMID: 33929645 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. Among authors: catania a. Front Neurol. 2021 Jun 9;12:657317. doi: 10.3389/fneur.2021.657317. eCollection 2021. Front Neurol. 2021. PMID: 34177762 Free PMC article.
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.
Brunetti D, Catania A, Viscomi C, Deleidi M, Bindoff LA, Ghezzi D, Zeviani M. Brunetti D, et al. Among authors: catania a. Biomedicines. 2021 Jul 17;9(7):833. doi: 10.3390/biomedicines9070833. Biomedicines. 2021. PMID: 34356897 Free PMC article. Review.
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
Vacchiano V, Caporali L, La Morgia C, Carbonelli M, Amore G, Bartolomei I, Cascavilla ML, Barboni P, Lamperti C, Catania A, Chan JW, Karanja R, Sadun AA, Liguori R, Bianchi A, Gavazzi G, Mascalchi M, Salvi F, Carelli V. Vacchiano V, et al. Among authors: catania a. Mitochondrion. 2021 Sep;60:142-149. doi: 10.1016/j.mito.2021.08.007. Epub 2021 Aug 11. Mitochondrion. 2021. PMID: 34390870
477 results