Bruno C - Search Results

1

Expanding the clinical spectrum of POMT1 phenotype.

D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. D'Amico A, et al. Among authors: bruno c. Neurology. 2006 May 23;66(10):1564-7; discussion 1461. doi: 10.1212/01.wnl.0000216145.66476.36. Neurology. 2006. PMID: 16717220

2

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. 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.

3

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

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

4

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C. Carbone I, et al. Among authors: bruno c. Neurology. 2000 Mar 28;54(6):1373-6. doi: 10.1212/wnl.54.6.1373. Neurology. 2000. PMID: 10746614

5

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

Tessa A, Carbone I, Matteoli MC, Bruno C, Patrono C, Patera IP, De Luca F, Lorini R, Santorelli FM. Tessa A, et al. Among authors: bruno c. Hum Mutat. 2001 Apr;17(4):348-9. doi: 10.1002/humu.32. Hum Mutat. 2001. PMID: 11295831

6

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LD, Bado M, Greco M, Zeviani M, Minetti C. Bruno C, et al. J Child Neurol. 2002 Mar;17(3):233-6. doi: 10.1177/088307380201700318. J Child Neurol. 2002. PMID: 12026244

7

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: bruno c. Neurology. 2002 Dec 24;59(12):2002-5. doi: 10.1212/01.wnl.0000036902.21438.98. Neurology. 2002. PMID: 12499504

8

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: bruno c. Neuromuscul Disord. 2003 Feb;13(2):162-5. doi: 10.1016/s0960-8966(02)00221-3. Neuromuscul Disord. 2003. PMID: 12565915

9

Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.

Bruno C, Sacco O, Santorelli FM, Assereto S, Tonoli E, Bado M, Rossi GA, Minetti C. Bruno C, et al. J Child Neurol. 2003 Apr;18(4):300-3. doi: 10.1177/08830738030180040401. J Child Neurol. 2003. PMID: 12760436

10

Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.

Rossi A, Biancheri R, Bruno C, Di Rocco M, Calvi A, Pessagno A, Tortori-Donati P. Rossi A, et al. Among authors: bruno c. AJNR Am J Neuroradiol. 2003 Jun-Jul;24(6):1188-91. AJNR Am J Neuroradiol. 2003. PMID: 12812953 Free PMC article.

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