Bruno C - Search Results

1

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

2

Polyglucosan body disease simulating amyotrophic lateral sclerosis.

McDonald TD, Faust PL, Bruno C, DiMauro S, Goldman JE. McDonald TD, et al. Among authors: bruno c. Neurology. 1993 Apr;43(4):785-90. doi: 10.1212/wnl.43.4.785. Neurology. 1993. PMID: 8469341

3

Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, Barohn RJ, Hirano M, Rifai Z, DiMauro S. Bruno C, et al. Ann Neurol. 1993 Jan;33(1):88-93. doi: 10.1002/ana.410330114. Ann Neurol. 1993. PMID: 8494336

4

Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.

el-Schahawi M, Bruno C, Tsujino S, Sarrazin AM, Shanske S, LeRoux MG, DiMauro S. el-Schahawi M, et al. Among authors: bruno c. Neuromuscul Disord. 1997 Mar;7(2):81-3. doi: 10.1016/s0960-8966(97)00424-0. Neuromuscul Disord. 1997. PMID: 9131647

5

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

6

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

7

Molecular genetic analysis of McArdle's disease in Spanish patients.

Andreu AL, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, Arbos MA, Tamburino L, Schwartz S, DiMauro S. Andreu AL, et al. Among authors: bruno c. Neurology. 1998 Jul;51(1):260-2. doi: 10.1212/wnl.51.1.260. Neurology. 1998. PMID: 9674815

8

A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.

Bruno C, Manfredi G, Andreu AL, Shanske S, Krishna S, Ilse WK, DiMauro S. Bruno C, et al. Biochem Biophys Res Commun. 1998 Aug 28;249(3):648-51. doi: 10.1006/bbrc.1998.9211. Biochem Biophys Res Commun. 1998. PMID: 9731190 Free article.

9

Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.

Gospe SM Jr, El-Schahawi M, Shanske S, Bruno C, DiMauro S, Hoye E, Walsh DA, Gorin FA. Gospe SM Jr, et al. Among authors: bruno c. Neurology. 1998 Oct;51(4):1228-9. doi: 10.1212/wnl.51.4.1228. Neurology. 1998. PMID: 9781574 No abstract available.

10

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.

Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom DS, Brown RH Jr, DiMauro S. Andreu AL, et al. Among authors: bruno c. Neurology. 1998 Nov;51(5):1444-7. doi: 10.1212/wnl.51.5.1444. Neurology. 1998. PMID: 9818877

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