Santorelli FM - Search Results

1

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Among authors: santorelli fm. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 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

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.

Sobreira C, Hirano M, Shanske S, Keller RK, Haller RG, Davidson E, Santorelli FM, Miranda AF, Bonilla E, Mojon DS, Barreira AA, King MP, DiMauro S. Sobreira C, et al. Among authors: santorelli fm. Neurology. 1997 May;48(5):1238-43. doi: 10.1212/wnl.48.5.1238. Neurology. 1997. PMID: 9153450

7

Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.

Santorelli FM, Siciliano G, Casali C, Basirico MG, Carrozzo R, Calvosa F, Sartucci F, Bonfiglio L, Murri L, DiMauro S. Santorelli FM, et al. Neuromuscul Disord. 1997 May;7(3):156-9. doi: 10.1016/s0960-8966(97)00444-6. Neuromuscul Disord. 1997. PMID: 9185178 Free article.

8

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.

Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF. Carrozzo R, et al. Among authors: santorelli fm. Neurology. 1998 Jan;50(1):99-106. doi: 10.1212/wnl.50.1.99. Neurology. 1998. PMID: 9443465

9

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

10

[Diagnosis of mitochondrial cardiomyopathies: the need for a multidisciplinary approach].

Santorelli FM, Bertini E. Santorelli FM, et al. G Ital Cardiol. 1999 Oct;29(10):1181-3. G Ital Cardiol. 1999. PMID: 10546130 Italian. No abstract available.

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