Santorelli FM - Search Results

1

A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

Santoro L, Manganelli F, Lanzillo R, Tessa A, Barbieri F, Pierelli F, Di Giacinto G, Nigro V, Santorelli FM. Santoro L, et al. Among authors: santorelli fm. J Neurol. 2006 Jul;253(7):869-74. doi: 10.1007/s00415-006-0082-6. Epub 2006 May 24. J Neurol. 2006. PMID: 16715201

2

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

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. 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

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Silvestri G, et al. Among authors: santorelli fm. Neurology. 1993 Jun;43(6):1200-6. doi: 10.1212/wnl.43.6.1200. Neurology. 1993. PMID: 8170567

5

MtDNA-related idiopathic dilated cardiomyopathy.

Tessa A, Vilarinho L, Casali C, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Eur J Hum Genet. 1999 Dec;7(8):847-8. doi: 10.1038/sj.ejhg.5200380. Eur J Hum Genet. 1999. PMID: 10602359 No abstract available.

6

Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association.

Mancuso M, Bianchi MC, Santorelli FM, Tessa A, Casali C, Murri L, Siciliano G. Mancuso M, et al. Among authors: santorelli fm. J Neurol. 1999 Dec;246(12):1197-8. doi: 10.1007/s004150050543. J Neurol. 1999. PMID: 10653316 No abstract available.

7

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

8

OXPHOS and mtDNA alterations in a family with spastic paraparesis.

Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

636 results

Search Page

Filters