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423 results

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The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, Valente EM, Piemonte F, Tozzi G, Carrozzo R, Valeriani M, Boldrini R, Mercuri E, Santorelli FM, Bertini E. Terracciano A, et al. Among authors: valeriani m. Eur J Paediatr Neurol. 2012 May;16(3):248-56. doi: 10.1016/j.ejpn.2011.07.016. Epub 2011 Aug 27. Eur J Paediatr Neurol. 2012. PMID: 21873089 Free PMC article.
Cerebellar ataxia and coenzyme Q10 deficiency.
Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S. Lamperti C, et al. Among authors: valeriani m. Neurology. 2003 Apr 8;60(7):1206-8. doi: 10.1212/01.wnl.0000055089.39373.fc. Neurology. 2003. PMID: 12682339
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: valeriani m. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. Nicita F, et al. Among authors: valeriani m. Parkinsonism Relat Disord. 2016 Sep;30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1. Parkinsonism Relat Disord. 2016. PMID: 27268479 No abstract available.
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
Travaglini L, Nardella M, Bellacchio E, D'Amico A, Capuano A, Frusciante R, Di Capua M, Cusmai R, Barresi S, Morlino S, Fernández-Fernández JM, Trivisano M, Specchio N, Valeriani M, Vigevano F, Bertini E, Zanni G. Travaglini L, et al. Among authors: valeriani m. Eur J Paediatr Neurol. 2017 May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30. Eur J Paediatr Neurol. 2017. PMID: 28007337
TBC1D24 gene mutations are associated with high risk of sudden unexpected death.
Trivisano M, Bellusci M, Terracciano A, De Palma L, Pietrafusa N, Valeriani M, Vigevano F, Specchio. Trivisano M, et al. Among authors: valeriani m. Epilepsy Behav. 2017 Jul;72:208-209. doi: 10.1016/j.yebeh.2017.04.010. Epub 2017 Jun 9. Epilepsy Behav. 2017. PMID: 28606688 No abstract available.
Longitudinal gait assessment in a stiff person syndrome.
Schirinzi T, Sancesario A, Romano A, Favetta M, Gobbi M, Valeriani M, Bertini ES, Castelli E, Vasco G, Petrarca M, Della Bella G. Schirinzi T, et al. Among authors: valeriani m. Int J Rehabil Res. 2018 Dec;41(4):377-379. doi: 10.1097/MRR.0000000000000304. Int J Rehabil Res. 2018. PMID: 30045062
423 results