Santorelli FM - Search Results

1

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Among authors: santorelli fm. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211

2

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

3

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

4

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

5

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

6

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

7

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.

8

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

9

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM. Carrozzo R, et al. Among authors: santorelli fm. Neurology. 2001 Mar 13;56(5):687-90. doi: 10.1212/wnl.56.5.687. Neurology. 2001. PMID: 11245730

10

Maternally inherited deafness associated with a T1095C mutation in the mDNA.

Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Eur J Hum Genet. 2001 Feb;9(2):147-9. doi: 10.1038/sj.ejhg.5200601. Eur J Hum Genet. 2001. PMID: 11313749

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