Mitochondrial tubulopathy: the many faces of mitochondrial disorders

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

Carlos T. Moraes, Salvatore DiMauro, Massimo Zeviani et al. · New England Journal of Medicine · 1989 · 1K citations

Medicine, Genetics, Ophthalmology +17

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Agnès Rötig, Jean Louis Bessis, Norma B. Romero et al. · PubMed · 1992 · 163 citations

Life Sciences, Genetics, Molecular Genetics +17

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

Patrick Niaudet, Laurence Heidet, Arnold Münnich et al. · Pediatric Nephrology · 1994 · 80 citations

Life Sciences, Genetics, Molecular Genetics +16

Congenital Hypoplastic Anemia, Diabetes, and Severe Renal Tubular Dysfunction Associated with a Mitochondrial DNA Deletion

Anna Majander, Anu Suomalainen, Kim Vettenranta et al. · Pediatric Research · 1991 · 79 citations

Medicine, Genetics, Molecular Genetics +16

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

Andrew A.M. Morris, Robert W. Taylor, Mark A. Birch‐Machin et al. · Pediatric Nephrology · 1995 · 58 citations

Medicine, Genetics, Pediatrics +16