Santorelli FM - Search Results

1

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

Bruno C, Cassandrini D, Fattori F, Pedemonte M, Fiorillo C, Brigati G, Brisca G, Minetti C, Santorelli FM. Bruno C, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 2011 Sep 9;412(4):518-21. doi: 10.1016/j.bbrc.2011.06.155. Epub 2011 Jun 29. Biochem Biophys Res Commun. 2011. PMID: 21741368

2

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

Santorelli FM, Mak SC, Vàzquez-Acevedo M, González-Astiazarán A, Ridaura-Sanz C, González-Halphen D, DiMauro S. Santorelli FM, et al. Biochem Biophys Res Commun. 1995 Nov 22;216(3):835-40. doi: 10.1006/bbrc.1995.2697. Biochem Biophys Res Commun. 1995. PMID: 7488201

3

A novel mtDNA point mutation in maternally inherited cardiomyopathy.

Casali C, Santorelli FM, D'Amati G, Bernucci P, DeBiase L, DiMauro S. Casali C, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 1995 Aug 15;213(2):588-93. doi: 10.1006/bbrc.1995.2172. Biochem Biophys Res Commun. 1995. PMID: 7646516

4

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S. Santorelli FM, et al. Biochem Biophys Res Commun. 1997 Sep 18;238(2):326-8. doi: 10.1006/bbrc.1997.7167. Biochem Biophys Res Commun. 1997. PMID: 9299505 Free article.

5

Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.

Bruno C, Minetti C, Tang Y, Magalhães PJ, Santorelli FM, Shanske S, Bado M, Cordone G, Gatti R, DiMauro S. Bruno C, et al. Among authors: santorelli fm. J Inherit Metab Dis. 1998 Apr;21(2):155-61. doi: 10.1023/a:1005347826664. J Inherit Metab Dis. 1998. PMID: 9584267

6

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zeviani M, Thorburn DR, DiMauro S. Bruno C, et al. Among authors: santorelli fm. J Pediatr. 1999 Aug;135(2 Pt 1):197-202. doi: 10.1016/s0022-3476(99)70022-3. J Pediatr. 1999. PMID: 10431114 Free article.

7

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

8

Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion.

Bruno C, Gandullia P, Santorelli FM, Biedi C, Carbone I, Bado M, Gatti R, Minetti C. Bruno C, et al. Among authors: santorelli fm. Clin Genet. 2002 Jun;61(6):465-7. doi: 10.1034/j.1399-0004.2002.610612.x. Clin Genet. 2002. PMID: 12121356 No abstract available.

9

SPG3A: An additional family carrying a new atlastin mutation.

Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile GA, Bertini E, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Neurology. 2002 Dec 24;59(12):2002-5. doi: 10.1212/01.wnl.0000036902.21438.98. Neurology. 2002. PMID: 12499504

10

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

Siciliano G, Tessa A, Petrini S, Mancuso M, Bruno C, Grieco GS, Malandrini A, DeFlorio L, Martini B, Federico A, Nappi G, Santorelli FM, Murri L. Siciliano G, et al. Among authors: santorelli fm. Neuromuscul Disord. 2003 Feb;13(2):162-5. doi: 10.1016/s0960-8966(02)00221-3. Neuromuscul Disord. 2003. PMID: 12565915

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