Bruno C - Search Results

1

Long term follow-up in two siblings with Sengers syndrome: Case report.

Panicucci C, Schiaffino MC, Nesti C, Derchi M, Trocchio G, Severino M, Stagnaro N, Priolo E, Zara F, Santorelli FM, Bruno C. Panicucci C, et al. Among authors: bruno c. Ital J Pediatr. 2022 Oct 17;48(1):180. doi: 10.1186/s13052-022-01370-y. Ital J Pediatr. 2022. PMID: 36253788 Free PMC article.

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

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

5

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

6

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

7

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

8

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C. Bruno C, et al. Neurology. 2004 Jan 13;62(1):13-6. doi: 10.1212/01.wnl.0000101676.41505.a7. Neurology. 2004. PMID: 14718689

9

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Bruno C, et al. Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. Neurology. 2004. PMID: 15452297

10

Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.

Minetti C, Gattorno M, Repetto S, Gregorio A, Pedemonte M, Assereto S, Zara F, Bruno C, Martini A. Minetti C, et al. Among authors: bruno c. Biochem Biophys Res Commun. 2005 Jul 29;333(2):540-3. doi: 10.1016/j.bbrc.2005.05.146. Biochem Biophys Res Commun. 2005. PMID: 15950936

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

1,004 results

Search Page