DOI: 10.1007/bf02074834. Early-onset fatal encephalomyopathy associated with severe mtDNA depletion

Early-onset fatal encephalomyopathy associated with severe mtDNA depletion

10.1007/bf02074834

Crossref journal-article

Springer Science and Business Media LLC

European Journal of Pediatrics (297)

Bibliography

Paquis-Flucklinger, V., Pellissier, F., Camboulives, J., Chabrol, B., SauniÃ¨res, A., Monfort, M. F., Giudicelli, H., & Desnuelle, C. (1995). Early-onset fatal encephalomyopathy associated with severe mtDNA depletion. European Journal of Pediatrics, 154(7), 557â562.

Authors 8

V. Paquis-Flucklinger (first)
F. Pellissier (additional)
J. Camboulives (additional)
B. Chabrol (additional)
A. Saunières (additional)
M. F. Monfort (additional)
H. Giudicelli (additional)
C. Desnuelle (additional)

References 17 Referenced 20

Ackrell BAC, Kearney EB, Singer TP (1978) Mammalian succinate dehydrogenase. Methods Enzymol 53: 466–483 (10.1016/S0076-6879(78)53050-4) / Methods Enzymol by BAC Ackrell (1978)
Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier JF, Serratrice G, Dravet C, Bureau M, Howell N, Turnbull DM (1991) Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalomyopathy (MERRF): a clinical, biochemical and molecular study. J Neurol Sci 102: 17–24 (10.1016/0022-510X(91)90088-O) / J Neurol Sci by LA Bindoff (1991)
Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AHV (1993) Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet 53: 663–669 / Am J Hum Genet by AG Bodnar (1993)
Davis GL, Dibner MD, Battey JF (1986) Basic methods in molecular biology. Elsevier, New York / Basic methods in molecular biology by GL Davis (1986)
Dubowitz V, Brooke MH (1973) Muscle biopsy — a modern approach. WB Saunders, Philadelphia / Muscle biopsy — a modern approach by V Dubowitz (1973)
Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C (1992) Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 108: 105–113 (10.1016/0022-510X(92)90195-Q) / J Neurol Sci by D Figarella-Branger (1992)
Holt IJ, Harding AE, Morgan HJA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717–719 (10.1038/331717a0) / Nature by IJ Holt (1988)
Leonard JV, Hyland K, Furukawa N, Clayton PT (1991) Mitochondrial phosphoenolpyruvate carboxykinase deficiency. Eur J Pediatr 150: 198–199 (10.1007/BF01963566) / Eur J Pediatr by JV Leonard (1991)
Lutfalla G, Blanc H, Bertolotti R (1985) Shuttling of integrated vectors from mammalian cells toE. coli is mediated by head-to-tail multimeric inserts. Somat Cell Genet 11: 223–238 (10.1007/BF01534679) / Somat Cell Genet by G Lutfalla (1985)
Mazziotta M, Ricci E, Bertini E, Dionisi Vici C, Servidei S, Burlina AB, Sabetta G, Bartuli A, Manfredi G, Silvestri G, Moraes CT, DiMauro S (1992) Fatal liver failure associated with mitochondrial DNA depletion. J Pediatr 121: 896–901 (10.1016/S0022-3476(05)80335-X) / J Pediatr by M Mazziotta (1992)
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S (1991) mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48: 492–501 / Am J Hum Genet by CT Moraes (1991)
Poulton J (1993) Mitochondrial DNA and genetic disease. Dev Med Child Neurol 35: 833–840 (10.1111/j.1469-8749.1993.tb11736.x) / Dev Med Child Neurol by J Poulton (1993)
Raynal F, Michot B, Bachellerie JP (1984) Complete nucleotide sequence of mouse 18S rRNA gene: comparison with others available homologs. FEBS Lett 167: 263–268 (10.1016/0014-5793(84)80139-8) / FEBS Lett by F Raynal (1984)
Ricci E, Moraes CT, Servidei S, Tonali P, Bonilla E, DiMauro S (1992) Disorders associated with depletion of mitochondrial DNA. Brain Pathol 2: 141–147 (10.1111/j.1750-3639.1992.tb00682.x) / Brain Pathol by E Ricci (1992)
Seligman AM, Karnovsky MJ, Wasserkrug HL, Hanker SJ (1968) Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polymerising osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol 38: 1–14 (10.1083/jcb.38.1.1) / J Cell Biol by AM Seligman (1968)
Shepherd D, Garland PB (1969) Citrate synthase from rat liver. Methods Enzymol 13: 11–16 (10.1016/0076-6879(69)13006-2) / Methods Enzymol by D Shepherd (1969)
Tritschler HJ, Andreetta F, Moraes CT, Bonilla E, Arnaudo E, Danon MJ, Glass S, Zelaya BM, Vamos E, Telerman-Toppet N, Shanske S, Kadenbach B, DiMauro S, Schon EA (1992) Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 42: 209–217 (10.1212/WNL.42.1.209) / Neurology by HJ Tritschler (1992)

Dates

Type	When
Created	20 years ago (Aug. 13, 2005, 6:05 p.m.)
Deposited	6 years, 3 months ago (May 14, 2019, 9:28 a.m.)
Indexed	11 months, 2 weeks ago (Sept. 15, 2024, 3:06 p.m.)
Issued	30 years, 2 months ago (July 1, 1995)
Published	30 years, 2 months ago (July 1, 1995)
Published Print	30 years, 2 months ago (July 1, 1995)

Funders 0

None

BibTeX

@article{Paquis_Flucklinger_1995, title={Early-onset fatal encephalomyopathy associated with severe mtDNA depletion}, volume={154}, ISSN={1432-1076}, url={http://dx.doi.org/10.1007/bf02074834}, DOI={10.1007/bf02074834}, number={7}, journal={European Journal of Pediatrics}, publisher={Springer Science and Business Media LLC}, author={Paquis-Flucklinger, V. and Pellissier, F. and Camboulives, J. and Chabrol, B. and Saunières, A. and Monfort, M. F. and Giudicelli, H. and Desnuelle, C.}, year={1995}, month=jul, pages={557–562} }

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