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327 results

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Page 1
Acute optic neuropathy associated with a novel MFN2 mutation.
Leonardi L, Marcotulli C, Storti E, Tessa A, Serrao M, Parisi V, Santorelli FM, Pierelli F, Casali C. Leonardi L, et al. Among authors: pierelli f. J Neurol. 2015 Jul;262(7):1678-80. doi: 10.1007/s00415-015-7756-x. Epub 2015 May 10. J Neurol. 2015. PMID: 25957633
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C. Criscuolo C, et al. Among authors: pierelli f. Neurology. 2006 Apr 25;66(8):1207-10. doi: 10.1212/01.wnl.0000208402.10512.4a. Neurology. 2006. PMID: 16636238
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM. Grieco GS, et al. Among authors: pierelli f. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. Neurology. 2004. PMID: 14718707
Familial basilar migraine associated with a new mutation in the ATP1A2 gene.
Ambrosini A, D'Onofrio M, Grieco GS, Di Mambro A, Montagna G, Fortini D, Nicoletti F, Nappi G, Sances G, Schoenen J, Buzzi MG, Santorelli FM, Pierelli F. Ambrosini A, et al. Among authors: pierelli f. Neurology. 2005 Dec 13;65(11):1826-8. doi: 10.1212/01.wnl.0000187072.71931.c0. Neurology. 2005. PMID: 16344534
Large deletion mutation of SPAST in a multi-generation family from Sardinia.
Racis L, Di Fabio R, Tessa A, Guillot F, Storti E, Piccolo F, Nesti C, Tedde A, Pierelli F, Agnetti V, Santorelli FM, Casali C. Racis L, et al. Among authors: pierelli f. Eur J Neurol. 2014 Jun;21(6):935-8. doi: 10.1111/ene.12290. Epub 2013 Nov 4. Eur J Neurol. 2014. PMID: 24824741
Early-onset optic neuropathy as initial clinical presentation in SPG7.
Marcotulli C, Leonardi L, Tessa A, De Negris AM, Cornia R, Pierallini A, Haggiag S, Pierelli F, Santorelli FM, Casali C. Marcotulli C, et al. Among authors: pierelli f. J Neurol. 2014 Sep;261(9):1820-1. doi: 10.1007/s00415-014-7432-6. Epub 2014 Jul 18. J Neurol. 2014. PMID: 25034272 No abstract available.
327 results