Santorelli F - Search Results

1

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. Among authors: santorelli f. J Neurol. 1991 Jun;238(3):147-50. doi: 10.1007/BF00319681. J Neurol. 1991. PMID: 1869890

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. Among authors: santorelli f. J Neurol Sci. 1991 Oct;105(2):155-8. doi: 10.1016/0022-510x(91)90139-x. J Neurol Sci. 1991. PMID: 1757791

3

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. Among authors: santorelli f. 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.

4

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. Among authors: santorelli f. Can J Neurol Sci. 1993 Feb;20(1):52-5. doi: 10.1017/s0317167100047417. Can J Neurol Sci. 1993. PMID: 8467430 Clinical Trial.

5

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.

Casali C, Fabrizi GM, Santorelli FM, Colazza G, Villanova M, Dotti MT, Cavallaro T, Cardaioli E, Battisti C, Manneschi L, DiGennaro GC, Fortini D, Spadaro M, Morocutti C, Federico A. Casali C, et al. Among authors: santorelli fm. Neurology. 1999 Mar 23;52(5):1103-4. doi: 10.1212/wnl.52.5.1103. Neurology. 1999. PMID: 10102446 No abstract available.

6

Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome.

De Joanna G, Santorelli FM, Casali C, Brescia-Morra V, Perretti A, Santoro L. De Joanna G, et al. Among authors: santorelli fm. J Hum Genet. 2000;45(2):109-11. doi: 10.1007/s100380050025. J Hum Genet. 2000. PMID: 10721677

7

Multiple mtDNA deletions: clinical and molecular correlations.

Santorelli FM, De Joanna G, Casali C, Tessa A, Siciliano G, Amabile GA, Pierelli F, Vilarinho L, Santoro L. Santorelli FM, et al. J Inherit Metab Dis. 2000 Mar;23(2):155-61. doi: 10.1023/a:1005617916260. J Inherit Metab Dis. 2000. PMID: 10801057

8

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.

Santoro L, Carrozzo R, Malandrini A, Piemonte F, Patrono C, Villanova M, Tessa A, Palmeri S, Bertini E, Santorelli FM. Santoro L, et al. Among authors: santorelli fm. Neuromuscul Disord. 2000 Aug;10(6):450-3. doi: 10.1016/s0960-8966(99)00122-4. Neuromuscul Disord. 2000. PMID: 10899453

9

Migraine as a complex disease: heterogeneity, comorbidity and genotype-phenotype interactions.

Nappi G, Costa A, Tassorelli C, Santorelli FM. Nappi G, et al. Among authors: santorelli fm. Funct Neurol. 2000 Apr-Jun;15(2):87-93. Funct Neurol. 2000. PMID: 10916720 Review.

10

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. Among authors: santorelli f. Neurology. 2001 May 22;56(10):1412-4. doi: 10.1212/wnl.56.10.1412. Neurology. 2001. PMID: 11376202

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