Santorelli FM - Search Results

1

Degenerative and acquired sporadic adult onset ataxia.

Lieto M, Roca A, Santorelli FM, Fico T, De Michele G, Bellofatto M, Saccà F, De Michele G, Filla A. Lieto M, et al. Among authors: santorelli fm. Neurol Sci. 2019 Jul;40(7):1335-1342. doi: 10.1007/s10072-019-03856-w. Epub 2019 Mar 29. Neurol Sci. 2019. PMID: 30927137 Review.

2

Influence of age, gender, height and education on vibration sense. A study by tuning fork in 192 normal subjects.

De Michele G, Filla A, Coppola N, Bisogno A, Trombetta L, Santorelli F, Campanella G. De Michele G, et al. J Neurol Sci. 1991 Oct;105(2):155-8. doi: 10.1016/0022-510x(91)90139-x. J Neurol Sci. 1991. PMID: 1757791

3

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria.

Filla A, De Michele G, Cavalcanti F, Santorelli F, Santoro L, Campanella G. Filla A, et al. J Neurol. 1991 Jun;238(3):147-50. doi: 10.1007/BF00319681. J Neurol. 1991. PMID: 1869890

4

Late onset recessive ataxia with Friedreich's disease phenotype.

De Michele G, Filla A, Barbieri F, Perretti A, Santoro L, Trombetta L, Santorelli F, Campanella G. De Michele G, et al. J Neurol Neurosurg Psychiatry. 1989 Dec;52(12):1398-401. doi: 10.1136/jnnp.52.12.1398. J Neurol Neurosurg Psychiatry. 1989. PMID: 2614435 Free PMC article.

5

A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia.

Filla A, De Michele G, Orefice G, Santorelli F, Trombetta L, Banfi S, Squitieri F, Napolitano G, Puma D, Campanella G. Filla A, et al. Can J Neurol Sci. 1993 Feb;20(1):52-5. doi: 10.1017/s0317167100047417. Can J Neurol Sci. 1993. PMID: 8467430 Clinical Trial.

6

Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.

Barbieri F, Pellecchia MT, Esposito E, Di Stasio E, Castaldo I, Santorelli F, Perretti A, Santoro L, De Michele G. Barbieri F, et al. Neurology. 2001 May 22;56(10):1412-4. doi: 10.1212/wnl.56.10.1412. Neurology. 2001. PMID: 11376202

7

A novel mutation in SACS gene in a family from southern Italy.

Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli FM, Perretti A, Santoro L, De Michele G, Filla A. Criscuolo C, et al. Among authors: santorelli fm. Neurology. 2004 Jan 13;62(1):100-2. doi: 10.1212/wnl.62.1.100. Neurology. 2004. PMID: 14718706 Free article.

8

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Scarano V, Mancini P, Criscuolo C, De Michele G, Rinaldi C, Tucci T, Tessa A, Santorelli FM, Perretti A, Santoro L, Filla A. Scarano V, et al. Among authors: santorelli fm. J Neurol. 2005 Aug;252(8):901-3. doi: 10.1007/s00415-005-0768-1. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742100

9

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A. Coppola G, et al. Among authors: santorelli fm. J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742102

10

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono C, Scarano V, Cricchi F, Melone MA, Chiriaco M, Napolitano A, Malandrini A, De Michele G, Petrozzi L, Giraldi C, Santoro L, Servidei S, Casali C, Filla A, Santorelli FM. Patrono C, et al. Among authors: santorelli fm. Hum Mutat. 2005 May;25(5):506. doi: 10.1002/humu.9340. Hum Mutat. 2005. PMID: 15841487

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