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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: servidei s. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
Osteoma of the internal auditory canal.
Plantone D, Renna R, Primiano G, Servidei S. Plantone D, et al. Among authors: servidei s. Intern Med. 2013;52(7):839. doi: 10.2169/internalmedicine.52.9425. Epub 2013 Apr 1. Intern Med. 2013. PMID: 23545691 Free article. No abstract available.
Midbrain panda sign in a patient with Wilson's disease.
Plantone D, Primiano G, Servidei S. Plantone D, et al. Among authors: servidei s. Intern Med. 2013;52(11):1285. doi: 10.2169/internalmedicine.52.0344. Intern Med. 2013. PMID: 23728578 Free article. No abstract available.
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
Catteruccia M, Sauchelli D, Della Marca G, Primiano G, Cuccagna C, Bernardo D, Leo M, Camporeale A, Sanna T, Cianfoni A, Servidei S. Catteruccia M, et al. Among authors: servidei s. J Neurol. 2015 Mar;262(3):701-10. doi: 10.1007/s00415-014-7632-0. Epub 2015 Jan 6. J Neurol. 2015. PMID: 25559684
Mitochondrial neuropathy: considerations on pathogenesis.
Luigetti M, Sauchelli D, Primiano G, Cuccagna C, Bernardo D, Lo Monaco M, Servidei S. Luigetti M, et al. Among authors: servidei s. Eur J Neurol. 2016 Aug;23(8):e55. doi: 10.1111/ene.13049. Eur J Neurol. 2016. PMID: 27431029 No abstract available.
Intestinal pseudo-obstruction in mitochondrial diseases.
Primiano G, Servidei S. Primiano G, et al. Among authors: servidei s. Ann Neurol. 2017 Jan;81(1):158-159. doi: 10.1002/ana.24816. Epub 2016 Nov 30. Ann Neurol. 2017. PMID: 27804144 No abstract available.
287 results