DiMauro S - 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. Among authors: dimauro s. J Child Neurol. 2000 Feb;15(2):137-8. doi: 10.1177/088307380001500216. J Child Neurol. 2000. PMID: 10695902

2

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. Santorelli FM, et al. Among authors: dimauro s. Neurology. 1994 May;44(5):972-4. doi: 10.1212/wnl.44.5.972. Neurology. 1994. PMID: 8190310

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. Among authors: dimauro s. Neurology. 1998 Jan;50(1):296-8. doi: 10.1212/wnl.50.1.296. Neurology. 1998. PMID: 9443500

4

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: dimauro s. Neurology. 1998 Jul;51(1):260-2. doi: 10.1212/wnl.51.1.260. Neurology. 1998. PMID: 9674815

5

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: dimauro s. Neurology. 1998 Oct;51(4):1228-9. doi: 10.1212/wnl.51.4.1228. Neurology. 1998. PMID: 9781574 No abstract available.

6

Glycogen storage diseases of muscle.

DiMauro S, Bruno C. DiMauro S, et al. Curr Opin Neurol. 1998 Oct;11(5):477-84. doi: 10.1097/00019052-199810000-00010. Curr Opin Neurol. 1998. PMID: 9847997 Review.

7

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.

Bruno C, Tamburino L, Kawashima N, Andreu AL, Shanske S, Hadjigeorgiou GM, Kawashima A, DiMauro S. Bruno C, et al. Among authors: dimauro s. Neuromuscul Disord. 1999 Jan;9(1):34-7. doi: 10.1016/s0960-8966(98)00096-0. Neuromuscul Disord. 1999. PMID: 10063833 Free article. Clinical Trial.

8

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.

Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, Navarro C, DiMauro S. Andreu AL, et al. Among authors: dimauro s. Neuromuscul Disord. 1999 May;9(3):171-3. doi: 10.1016/s0960-8966(98)00125-4. Neuromuscul Disord. 1999. PMID: 10382911 Free article.

9

Molecular characterization of McArdle's disease in two large Finnish families.

Bruno C, Löfberg M, Tamburino L, Jänkälä H, Hadjigeorgiou GM, Andreu AL, Shanske S, Somer H, DiMauro S. Bruno C, et al. Among authors: dimauro s. J Neurol Sci. 1999 Jun 1;165(2):121-5. doi: 10.1016/s0022-510x(99)00091-x. J Neurol Sci. 1999. PMID: 10450796 Free article.

10

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

Fernández R, Navarro C, Andreu AL, Bruno C, Shanske S, Gámez J, Teijeira S, Hernández I, Teijeiro A, Fernández JM, Musumeci O, DiMauro S. Fernández R, et al. Among authors: dimauro s. Arch Neurol. 2000 Feb;57(2):217-9. doi: 10.1001/archneur.57.2.217. Arch Neurol. 2000. PMID: 10681080 Clinical Trial.

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