Santorelli FM - Search Results

1

Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.

Siri L, Battaglia FM, Tessa A, Rossi A, Rocco MD, Facchinetti S, Mascaretti M, Santorelli FM, Veneselli E, Biancheri R. Siri L, et al. Among authors: santorelli fm. Neuropediatrics. 2010 Feb;41(1):35-8. doi: 10.1055/s-0030-1253352. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571989

2

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.

3

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: santorelli fm. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414

4

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

5

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

6

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

7

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.

Santorelli FM, Patrono C, Fortini D, Tessa A, Comanducci G, Bertini E, Pierallini A, Amabile GA, Casali C. Santorelli FM, et al. Neurology. 2000 Sep 12;55(5):702-5. doi: 10.1212/wnl.55.5.702. Neurology. 2000. PMID: 10980739

8

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.

Simonati A, Santorum E, Tessa A, Polo A, Simonetti F, Bernardina BD, Santorelli FM, Rizzuto N. Simonati A, et al. Among authors: santorelli fm. Neuropediatrics. 2000 Aug;31(4):199-201. doi: 10.1055/s-2000-7453. Neuropediatrics. 2000. PMID: 11071145

9

The emerging concept of mitochondrial cardiomyopathies.

Santorelli FM, Tessa A, D'amati G, Casali C. Santorelli FM, et al. Am Heart J. 2001 Jan;141(1):E1. doi: 10.1067/mhj.2001.112088. Am Heart J. 2001. PMID: 11136504 Review.

10

Abnormal H-Tfam in a patient harboring a single mtDNA deletion.

Tessa A, Manca ML, Mancuso M, Renna MR, Murri L, Martini B, Santorelli FM, Siciliano G. Tessa A, et al. Among authors: santorelli fm. Funct Neurol. 2000 Oct-Dec;15(4):211-4. Funct Neurol. 2000. PMID: 11213524

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