el-Schahawi M - Search Results

1

Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.

Kaufmann P, el-Schahawi M, DiMauro S. Kaufmann P, et al. Among authors: el schahawi m. Mol Cell Biochem. 1997 Sep;174(1-2):237-9. Mol Cell Biochem. 1997. PMID: 9309694

2

Diagnosis of McArdle's disease by molecular genetic analysis of blood.

el-Schahawi M, Tsujino S, Shanske S, DiMauro S. el-Schahawi M, et al. Neurology. 1996 Aug;47(2):579-80. doi: 10.1212/wnl.47.2.579. Neurology. 1996. PMID: 8757044

3

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. Neuromuscul Disord. 1997 Mar;7(2):81-3. doi: 10.1016/s0960-8966(97)00424-0. Neuromuscul Disord. 1997. PMID: 9131647

4

A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression.

Shtilbans A, El-Schahawi M, Malkin E, Shanske S, Musumeci O, DiMauro S. Shtilbans A, et al. Among authors: el schahawi m. J Child Neurol. 1999 Sep;14(9):610-3. doi: 10.1177/088307389901400910. J Child Neurol. 1999. PMID: 10488907

5

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S. Santorelli FM, et al. Among authors: el schahawi m. Am J Hum Genet. 1996 May;58(5):933-9. Am J Hum Genet. 1996. PMID: 8651277 Free PMC article.

6

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

el-Schahawi M, López de Munain A, Sarrazin AM, Shanske AL, Basirico M, Shanske S, DiMauro S. el-Schahawi M, et al. Neurology. 1997 Feb;48(2):453-6. doi: 10.1212/wnl.48.2.453. Neurology. 1997. PMID: 9040738

7

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

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