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Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP. Ronchi D, et al. Among authors: peverelli l. Am J Hum Genet. 2013 Feb 7;92(2):293-300. doi: 10.1016/j.ajhg.2012.12.014. Epub 2013 Jan 24. Am J Hum Genet. 2013. PMID: 23352259 Free PMC article.
A case report with the peculiar concomitance of 2 different genetic syndromes.
Lerario A, Colombo I, Milani D, Peverelli L, Villa L, Del Bo R, Sciacco M, Comi GP, Esposito S, Moggio M. Lerario A, et al. Among authors: peverelli l. Medicine (Baltimore). 2016 Dec;95(49):e5567. doi: 10.1097/MD.0000000000005567. Medicine (Baltimore). 2016. PMID: 27930565 Free PMC article. Review.
Rhabdomyolysis-Associated Acute Kidney Injury.
Esposito P, Estienne L, Serpieri N, Ronchi D, Comi GP, Moggio M, Peverelli L, Bianzina S, Rampino T. Esposito P, et al. Among authors: peverelli l. Am J Kidney Dis. 2018 Jun;71(6):A12-A14. doi: 10.1053/j.ajkd.2018.03.009. Am J Kidney Dis. 2018. PMID: 29801551 Free article. No abstract available.
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, D'Amico A, Maggi L, Ruggiero L, Vercelli L, Magri F, Fattori F, Torella A, Ergoli M, Rubegni A, Fanin M, Musumeci O, Bleecker J, Peverelli L, Moggio M, Mercuri E, Toscano A, Mora M, Santoro L, Mongini T, Bertini E, Bruno C, Minetti C, Comi GP, Santorelli FM, Angelini C, Politano L, Piluso G, Nigro V. Giugliano T, et al. Among authors: peverelli l. Genes (Basel). 2018 Oct 26;9(11):524. doi: 10.3390/genes9110524. Genes (Basel). 2018. PMID: 30373198 Free PMC article.
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.
Gagliardi D, Mauri E, Magri F, Velardo D, Meneri M, Abati E, Brusa R, Faravelli I, Piga D, Ronchi D, Triulzi F, Peverelli L, Sciacco M, Bresolin N, Comi GP, Corti S, Govoni A. Gagliardi D, et al. Among authors: peverelli l. Front Neurol. 2019 Jan 31;10:38. doi: 10.3389/fneur.2019.00038. eCollection 2019. Front Neurol. 2019. PMID: 30766507 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.
35 results