Magda El-Schahawi

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

Filippo M. Santorelli, Suk-Chun Mak, Magda El-Schahawi et al. · PubMed · 1996 · 170 citations

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene

Magda El-Schahawi, Adolfo López de Munaín, Amélie Sarrazin et al. · Neurology · 1997 · 93 citations

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

Magda El-Schahawi, Seiichi Tsujino, Sara Shanske et al. · Neurology · 1996 · 55 citations

Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood

Petra Kaufmann, Magda El-Schahawi, Salvatore DiMauro · 1997 · 28 citations

Biochemistry, Inherited Metabolic Disease, Bioanalysis +3

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

Magda El-Schahawi, Claudio Bruno, Seiichi Tsujino et al. · Neuromuscular Disorders · 1997 · 28 citations

Family Medicine, Inherited Metabolic Disease, Pediatrics +3