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2005 1
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23 results

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Page 1
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: piga d. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome.
Fumagalli M, Ronchi D, Bedeschi MF, Manini A, Cristofori G, Mosca F, Dilena R, Sciacco M, Zanotti S, Piga D, Ardissino G, Triulzi F, Corti S, Comi GP, Salviati L. Fumagalli M, et al. Among authors: piga d. Mol Genet Metab Rep. 2022 Jun 18;32:100887. doi: 10.1016/j.ymgmr.2022.100887. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35756861 Free PMC article.
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies.
Mauri E, Piga D, Govoni A, Brusa R, Pagliarani S, Ripolone M, Dilena R, Cinnante C, Sciacco M, Cassandrini D, Nigro V, Bresolin N, Corti S, Comi GP, Magri F. Mauri E, et al. Among authors: piga d. Front Neurol. 2021 Jun 28;12:664618. doi: 10.3389/fneur.2021.664618. eCollection 2021. Front Neurol. 2021. PMID: 34262519 Free PMC article.
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
Mauri E, Piga D, Pagliarani S, Magri F, Manini A, Sciacco M, Ripolone M, Napoli L, Borellini L, Cinnante C, Cassandrini D, Corti S, Bresolin N, Comi GP, Govoni A. Mauri E, et al. Among authors: piga d. J Neurol Sci. 2021 Dec 15;431:120047. doi: 10.1016/j.jns.2021.120047. Epub 2021 Nov 3. J Neurol Sci. 2021. PMID: 34763287 No abstract available.
Novel mutations in DNA2 associated with myopathy and mtDNA instability.
Ronchi D, Liu C, Caporali L, Piga D, Li H, Tagliavini F, Valentino ML, Ferrò MT, Bini P, Zheng L, Carelli V, Shen B, Comi GP. Ronchi D, et al. Among authors: piga d. Ann Clin Transl Neurol. 2019 Sep;6(9):1893-1899. doi: 10.1002/acn3.50888. Epub 2019 Sep 2. Ann Clin Transl Neurol. 2019. PMID: 31478350 Free PMC article.
23 results