Santorelli FM - Search Results

1

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.

Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, Mongini T, D'Amico A, Bianco F, Lombardo ME, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M, Toscano A, Moggio M, Comi G, Santorelli FM, Bertini E, Muntoni F, Mercuri E. Pane M, et al. Among authors: santorelli fm. Neuromuscul Disord. 2012 Aug;22(8):685-9. doi: 10.1016/j.nmd.2012.05.006. Epub 2012 Jun 22. Neuromuscul Disord. 2012. PMID: 22727687 Free PMC article.

2

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

3

[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.

4

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

5

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

6

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

7

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

8

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

9

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

10

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

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

637 results

Search Page

Filters