Bruno C - Search Results

1

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.

Mercuri E, Bertini E, Messina S, Solari A, D'Amico A, Angelozzi C, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Colitto F, Kinali M, Minetti C, Mongini T, Morandi L, Neri G, Orcesi S, Pane M, Pelliccioni M, Pini A, Tiziano FD, Villanova M, Vita G, Brahe C. Mercuri E, et al. Among authors: bruno c. Neurology. 2007 Jan 2;68(1):51-5. doi: 10.1212/01.wnl.0000249142.82285.d6. Epub 2006 Nov 2. Neurology. 2007. PMID: 17082463 Clinical Trial.

2

[Early myoclonic encephalopathy and spinal muscular atrophy type I].

Bado M, Bruno C, Morreale G, Parisi F, Minetti C, Cordone G. Bado M, et al. Among authors: bruno c. Minerva Pediatr. 1995 Jun;47(6):233-8. Minerva Pediatr. 1995. PMID: 7476749 Italian.

3

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.

Bruno C, Minetti C, Shanske S, Morreale G, Bado M, Cordone G, DiMauro S. Bruno C, et al. Neurology. 1998 Jan;50(1):296-8. doi: 10.1212/wnl.50.1.296. Neurology. 1998. PMID: 9443500

4

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.

5

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

6

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

7

Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.

Bruno C, Bado M, Minetti C, Cordone G, DiMauro S. Bruno C, et al. J Child Neurol. 2000 Jun;15(6):390-3. doi: 10.1177/088307380001500607. J Child Neurol. 2000. PMID: 10868782

8

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.

Merlini L, Carbone I, Capanni C, Sabatelli P, Tortorelli S, Sotgia F, Lisanti MP, Bruno C, Minetti C. Merlini L, et al. Among authors: bruno c. J Neurol Neurosurg Psychiatry. 2002 Jul;73(1):65-7. doi: 10.1136/jnnp.73.1.65. J Neurol Neurosurg Psychiatry. 2002. PMID: 12082049 Free PMC article.

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

10

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

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,008 results

Search Page