Santorelli FM - Search Results

1

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

Messina S, Tortorella G, Concolino D, Spanò M, D'Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E. Messina S, et al. Among authors: santorelli fm. Neurology. 2009 Nov 10;73(19):1599-601. doi: 10.1212/WNL.0b013e3181c0d47a. Neurology. 2009. PMID: 19901254 No abstract available.

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

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

4

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.

5

[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.

6

HyperCKemia as the only sign of McArdle's disease in a child.

Bruno C, Bertini E, Santorelli FM, DiMauro S. Bruno C, et al. Among authors: santorelli fm. J Child Neurol. 2000 Feb;15(2):137-8. doi: 10.1177/088307380001500216. J Child Neurol. 2000. PMID: 10695902

7

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

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

X-linked congenital ataxia: a clinical and genetic study.

Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423

10

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

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