Concepedia

Publication | Open Access

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

DOIFull Paper Access

311

Citations

30

References

2005

Year

Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner‐Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair T. Pagnamenta, Sharon Eshhar, Ann Saada
The American Journal of Human Genetics

References

YearCitations

Mutations in <i>SDHD</i> , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Bora E. Baysal, Robert E. Ferrell, Joan E. Willett-Brozick,

Science

2000

1.6K

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

S. E. Olpin

Nature Genetics

2002

1.6K

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano

Science

1999

892

Online Mendelian Inheritance in Man 'OMIM'.

Sangeeta Amladi

PubMed

2007

870

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel,

Nature Genetics

2001

614

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler,

PubMed

1991

590

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Hanna Mandel, Raymonde Szargel, Valentina Labay,

Nature Genetics

2001

582

<i>POLG</i> mutations associated with Alpers' syndrome and mitochondrial DNA depletion

Robert K. Naviaux, Khue Vu Nguyen

Annals of Neurology

2004

456

Aconitase Couples Metabolic Regulation to Mitochondrial DNA Maintenance

Xin Jie Chen, Xiaowen Wang, Brett A. Kaufman,

Science

2005

313

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

Hans-Juergen Tritschler, Francesca Andreetta, Carlos T. Moraes,

Neurology

1992

215

Page 1