Bruno C - Search Results

1

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: bruno c. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7. Mov Disord. 2014. PMID: 24510442

2

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. J Inherit Metab Dis. 1998 Apr;21(2):155-61. doi: 10.1023/a:1005347826664. J Inherit Metab Dis. 1998. PMID: 9584267

3

Forearm semi-ischemic exercise test in pediatric patients.

Bruno C, Bado M, Minetti C, Cordone G. Bruno C, et al. J Child Neurol. 1998 Jun;13(6):288-90. doi: 10.1177/088307389801300610. J Child Neurol. 1998. PMID: 9660514 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. J Child Neurol. 2000 Feb;15(2):137-8. doi: 10.1177/088307380001500216. J Child Neurol. 2000. PMID: 10695902

5

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

6

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. 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.

7

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

8

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

9

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.

Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C. Bruno C, et al. Muscle Nerve. 2003 Oct;28(4):508-11. doi: 10.1002/mus.10429. Muscle Nerve. 2003. PMID: 14506725

10

Congenital myopathies.

Bruno C, Minetti C. Bruno C, et al. Curr Neurol Neurosci Rep. 2004 Jan;4(1):68-73. doi: 10.1007/s11910-004-0015-7. Curr Neurol Neurosci Rep. 2004. PMID: 14683632 Review.

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