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E. M. Bleeker-Wagemakers

University of Amsterdam

10

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190

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On the many faces of Leber hereditary optic neuropathy

2008 Clinical Genetics
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Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

1995 American Journal of Human Genetics
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The Mitochondrial DNA Mutation ND6*14,484C Associated with Leber Hereditary Optic Neuropathy, Leads to Deficiency of Complex I of the Respiratory Chain

1995 Biochemical and Biophysical Research Communications
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[Leber's optic nerve atrophy; a mitochondrial hereditary disease].

1995 Nederlands Tijdschrift voor Geneeskunde
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Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy.

1993 Ophthalmic Genetics
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Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease.

1993 Journal of Inherited Metabolic Disease
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The causes of blindness in the mentally retarded: With special reference to the genetic aspects

1982 Ophthalmic Genetics
- E. M. Bleeker-Wagemakers
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Hereditary malformation of the toes and fingers in a family with double translocation heterozygosity

1978 Pediatric Radiology
- P.F. Dijkstra
- E. M. Bleeker-Wagemakers
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Duplication deficiency syndrome in familial translocation (2q-; 5p+)

1971 Human Genetics
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