Santorelli FM - Search Results

1

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.

Leonardi L, Ziccardi L, Marcotulli C, Rubegni A, Longobardi A, Serrao M, Storti E, Pierelli F, Tessa A, Parisi V, Santorelli FM, Carlo C. Leonardi L, et al. Among authors: santorelli fm. J Neurol. 2016 Apr;263(4):781-3. doi: 10.1007/s00415-016-8066-7. Epub 2016 Feb 25. J Neurol. 2016. PMID: 26914923

2

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.

3

Chronic diarrhea associated with the A3243G mtDNA mutation.

Santorelli FM, Villanova M, Malandrini A, Grieco GS, Palmeri S, Merlini L, Casali C. Santorelli FM, et al. Neurology. 2000 Jan 11;54(1):266-7. doi: 10.1212/wnl.54.1.266. Neurology. 2000. PMID: 10636171 No abstract available.

4

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.

5

mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine.

Buzzi MG, Di Gennaro G, D'Onofrio M, Ciccarelli O, Santorelli FM, Fortini D, Nappi G, Nicoletti F, Casali C. Buzzi MG, et al. Among authors: santorelli fm. Neurology. 2000 Feb 22;54(4):1005-7. doi: 10.1212/wnl.54.4.1005. Neurology. 2000. PMID: 10691007

6

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

7

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

8

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

9

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.

Tessa A, Simonati A, Tavoni A, Bertini E, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Hum Mutat. 2000 Jun;15(6):577. doi: 10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10862088

10

Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance.

Di Gennaro G, Buzzi MG, Ciccarelli O, Santorelli FM, Pierelli F, Fortini D, D'Onofrio M, Costa A, Nappi G, Casali C. Di Gennaro G, et al. Among authors: santorelli fm. Headache. 2000 Jul-Aug;40(7):568-71. doi: 10.1046/j.1526-4610.2000.00088.x. Headache. 2000. PMID: 10940095

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