-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F et al: Sequence and organization of the human mitochondrial genome. Nature 1981, 290:457-465
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
De Bruijn, M.H.L.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
-
2
-
-
0029587469
-
Molecular genetics aspects of human mitochon-drial disorders
-
Larsson NG, Clayton DA: Molecular genetics aspects of human mitochon-drial disorders. Annu Rev Genet 1995, 29:151-178.
-
(1995)
Annu Rev Genet
, vol.29
, pp. 151-178
-
-
Larsson, N.G.1
Clayton, D.A.2
-
4
-
-
0028491222
-
Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA
-
Salmaggi A, Carrara F, Zeviani M: Remarkable recovery of visual function In a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA. Int J Neurosci 1994, 77:261-266.
-
(1994)
Int J Neurosci
, vol.77
, pp. 261-266
-
-
Salmaggi, A.1
Carrara, F.2
Zeviani, M.3
-
5
-
-
0030060823
-
Use of transmitochondrial cybrlds to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
-
Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC: Use of transmitochondrial • cybrlds to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 1996, 16:771-777 The authors demonstrate a complex I deficiency associated with the LHON/ dystonia mutation in the WD6 gene.
-
(1996)
Mol Cell Biol
, vol.16
, pp. 771-777
-
-
Jun, A.S.1
Trounce, I.A.2
Brown, M.D.3
Shoffner, J.M.4
Wallace, D.C.5
-
6
-
-
0029091199
-
Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
-
Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH, Kaufman A, Koontz D, Kim Y, Graham JR, Wallace DC: Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 1995, 38:163-169.
-
(1995)
Ann Neurol
, vol.38
, pp. 163-169
-
-
Shoffner, J.M.1
Brown, M.D.2
Stugard, C.3
Jun, A.S.4
Pollock, S.5
Haas, R.H.6
Kaufman, A.7
Koontz, D.8
Kim, Y.9
Graham, J.R.10
Wallace, D.C.11
-
7
-
-
0029122341
-
A novel mitochondrial ATPase 6 point mutation in familial bilateral strlatal necrosis
-
Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S: A novel mitochondrial ATPase 6 point mutation in familial bilateral strlatal necrosis. Ann Neurol 1995, 38:468-472.
-
(1995)
Ann Neurol
, vol.38
, pp. 468-472
-
-
Thyagarajan, D.1
Shanske, S.2
Vazquez-Memije, M.3
De Vivo, D.4
DiMauro, S.5
-
8
-
-
0030003760
-
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
-
Keightley JA, Hoffbuhr KC, Buton MD, Salas VM, Johnston WSW, Penn AMW, • Buist NRM and Kennaway NG: A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet 1996, 12:410-416. A well documented description of a gene-specific deletion of 15 bp (the smallest 'more than one nucleotide' mtDNA deletion to be associated with human disease).
-
(1996)
Nat Genet
, vol.12
, pp. 410-416
-
-
Keightley, J.A.1
Hoffbuhr, K.C.2
Buton, M.D.3
Salas, V.M.4
Johnston, W.S.W.5
Penn, A.M.W.6
Buist, N.R.M.7
Kennaway, N.G.8
-
9
-
-
0029116474
-
A novel mtDNA point mutation in maternally inherited cardiomyopathy
-
Casali C, Santorelli FM, D'Amati G, Bernucci P, DeBiase L, DiMauro S: A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun 1995, 213:588-593.
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 588-593
-
-
Casali, C.1
Santorelli, F.M.2
D'Amati, G.3
Bernucci, P.4
DeBiase, L.5
DiMauro, S.6
-
10
-
-
0028917662
-
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic associations of a new heteroplasmlc mtDNA tRNA glutamic acid mutation
-
Hanna MG, Nelson I, Sweeney MG, Cooper JM, Watkins PJ, Morgan-Hughes JA, Harding AE: Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmlc mtDNA tRNA glutamic acid mutation. Am J Hum Genet 1995, 56:1026-1033.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1026-1033
-
-
Hanna, M.G.1
Nelson, I.2
Sweeney, M.G.3
Cooper, J.M.4
Watkins, P.J.5
Morgan-Hughes, J.A.6
Harding, A.E.7
-
11
-
-
0028927272
-
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus
-
Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes CT: Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet 1995, 56:1017-1025.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1017-1025
-
-
Hao, H.1
Bonilla, E.2
Manfredi, G.3
DiMauro, S.4
Moraes, C.T.5
-
12
-
-
0029919367
-
Identification of a mutation in the mitochondrial tRNA-cys gene associated with mitochondrial encephalomyopathy
-
Manfredi G, Schon EA, Bonilla E, Moraes CT, Shanske S, DiMauro S: Identification of a mutation in the mitochondrial tRNA-cys gene associated with mitochondrial encephalomyopathy. Hum Mut 1996, 7.158-163.
-
(1996)
Hum Mut
, vol.7
, pp. 158-163
-
-
Manfredi, G.1
Schon, E.A.2
Bonilla, E.3
Moraes, C.T.4
Shanske, S.5
DiMauro, S.6
-
13
-
-
0029145589
-
A novel point mutation in the mitochondria tRNA [Ser (UCN)] gene detected in a family with MERRF/MELAS overlap syndrome
-
Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguch I, Kaji R, Kimura J: A novel point mutation in the mitochondria tRNA [Ser (UCN)] gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun 1995, 214:86-93.
-
(1995)
Biochem Biophys Res Commun
, vol.214
, pp. 86-93
-
-
Nakamura, M.1
Nakano, S.2
Goto, Y.3
Ozawa, M.4
Nagahama, Y.5
Fukuyama, H.6
Akiguch, I.7
Kaji, R.8
Kimura, J.9
-
14
-
-
0029962873
-
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A)
-
Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S: Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A). Am J Hum Genet 1996, 58:933-939.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 933-939
-
-
Santorelli, F.M.1
Mak, S.C.2
El-Schahawi, M.3
Casali, C.4
Shanske, S.5
Baram, T.Z.6
Madrid, R.E.7
DiMauro, S.8
-
15
-
-
0028786838
-
A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy
-
Santorelli FM, Mak SC, Vazques-Acevedo M, Gonzalez-Astiazaran A, Ridaura-Sanz C, Gonzalez-Halphen D, Di Mauro S: A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochem Biophys Res Commun 1995, 216:835-840.
-
(1995)
Biochem Biophys Res Commun
, vol.216
, pp. 835-840
-
-
Santorelli, F.M.1
Mak, S.C.2
Vazques-Acevedo, M.3
Gonzalez-Astiazaran, A.4
Ridaura-Sanz, C.5
Gonzalez-Halphen, D.6
Di Mauro, S.7
-
16
-
-
0029119782
-
Maternally Inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene
-
Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, Zeviani M: Maternally Inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 1995, 4:1421-1427
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1421-1427
-
-
Tiranti, V.1
Chariot, P.2
Carella, F.3
Toscano, A.4
Soliveri, P.5
Girlanda, P.6
Carrara, F.7
Fratta, G.M.8
Reid, F.M.9
Mariotti, C.10
Zeviani, M.11
-
17
-
-
0028900387
-
A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study
-
Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE: A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann Neurol 1995, 37:400-403.
-
(1995)
Ann Neurol
, vol.37
, pp. 400-403
-
-
Nelson, I.1
Hanna, M.G.2
Alsanjari, N.3
Scaravilli, F.4
Morgan-Hughes, J.A.5
Harding, A.E.6
-
18
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-•• Pequignot E, Munnich A, Rotig A: Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995, 11:144-149. The first well documentated description of a nuclear DNA mutation affecting oxidative phosphorylation system components.
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
Birch-Machin, M.4
Bourgeois, M.5
Pequignot, E.6
Munnich, A.7
Rotig, A.8
-
19
-
-
0028833524
-
An autosomal locus predisposing to deletions of mitochondrial DNA
-
Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissembach J, •• Zeviani M, Somer H, Peltonen L: An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995, 9:146-151. The first report of a nuclear DNA locus linked to multiple mtDNA deletions in autosomal dominant PEO.
-
(1995)
Nat Genet
, vol.9
, pp. 146-151
-
-
Suomalainen, A.1
Kaukonen, J.2
Amati, P.3
Timonen, R.4
Haltia, M.5
Weissembach, J.6
Zeviani, M.7
Somer, H.8
Peltonen, L.9
-
20
-
-
19144363053
-
An autosomal locus predisposing to multiple deletions of mtDNA on chromosone 3p
-
Kaukonen JA, Amati P, Suomalainen A, Rotig A, Piscaglia MG, Salvi F, •• Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M: An autosomal locus predisposing to multiple deletions of mtDNA on chromosone 3p. Am J Hum Genet 1996, 58:763-769. Identified a second locus linked to autosomal dominant PEO with multiple mtDNA deletions.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 763-769
-
-
Kaukonen, J.A.1
Amati, P.2
Suomalainen, A.3
Rotig, A.4
Piscaglia, M.G.5
Salvi, F.6
Weissenbach, J.7
Fratta, G.8
Comi, G.9
Peltonen, L.10
Zeviani, M.11
-
21
-
-
0002600547
-
Report of the cornmittee on human mitochondrial DNA
-
Edited by Cuticchia AJ. Baltimore: Johns Hopkins University Press
-
Wallace DC, Lott MT, Brown MD, Huoponen K, Tomni A: Report of the cornmittee on human mitochondrial DNA. In Human gene mapping 1995: a compendium. Edited by Cuticchia AJ. Baltimore: Johns Hopkins University Press; 1995:910-954 (also available at http://www.gen.emory.edu/mitomap. html).
-
(1995)
Human Gene Mapping 1995: A Compendium
, pp. 910-954
-
-
Wallace, D.C.1
Lott, M.T.2
Brown, M.D.3
Huoponen, K.4
Tomni, A.5
-
22
-
-
0028929372
-
In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys) gene: Two genotypes produce similar phenotypes
-
Lys gene are associated with the presence of abnormal mitochondnally-synthesized polypeptides.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 2872-2881
-
-
Masucci, J.P.1
Davidson, M.2
Koga, Y.3
Schon, E.A.4
King, M.P.5
-
24
-
-
0029063911
-
Myoclonic epilepsy with ragged-red fibers (MERRF): An immunohistochemical study of the brain
-
Sparaco M, Schon EA, DiMauro S, Bonilla E: Myoclonic epilepsy with • ragged-red fibers (MERRF): an immunohistochemical study of the brain. Brain Pathol 1995, 5:125-133. This study pioneered the molecular approaches extensively used in muscle to brain tissue.
-
(1995)
Brain Pathol
, vol.5
, pp. 125-133
-
-
Sparaco, M.1
Schon, E.A.2
DiMauro, S.3
Bonilla, E.4
-
25
-
-
0030027561
-
Functional and molecular mitochondrial abnormalities associated with a C→T transition at position 3256 of the human mitochondrial genome
-
Hao H, Moraes CT: Functional and molecular mitochondrial abnormalities • associated with a C→T transition at position 3256 of the human mitochondrial genome. J Biol Chem 1996, 271:2347-2352. Identified a specific reduction in the synthesis of ND1 polypeptide caused by misprocessing of an intermediate transcript (RNA 19).
-
(1996)
J Biol Chem
, vol.271
, pp. 2347-2352
-
-
Hao, H.1
Moraes, C.T.2
-
26
-
-
0029086201
-
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and moleculargenetic study
-
Mariotti C, Uziel G, Carrara F, M. M, Prelle A, Tiranti V, DiDonato S, Zeviani M Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and moleculargenetic study. J Neurol 1995, 242:547-556.
-
(1995)
J Neurol
, vol.242
, pp. 547-556
-
-
Mariotti, C.1
Uziel, G.2
Carrara, F.M.M.3
Prelle, A.4
Tiranti, V.5
DiDonato, S.6
Zeviani, M.7
-
27
-
-
0028931797
-
Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication
-
Bodnar AG, Cooper JM, Leonard JV, Schapira AH: Respiratory-deficient • human fibroblasts exhibiting defective mitochondrial DNA replication. Biochem J 1995, 305:817-822. Genetic and biochemical characterization of patient-derived cell lines that spontaneously lose their mtDNA in culture.
-
(1995)
Biochem J
, vol.305
, pp. 817-822
-
-
Bodnar, A.G.1
Cooper, J.M.2
Leonard, J.V.3
Schapira, A.H.4
-
28
-
-
0028930787
-
Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome
-
Poulton J, Sewry C, Potter CG, Bougeron T, Chretian D, Wijburg FA, Morten KJ, Brown G: Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome. J Inher Met Dis 1995, 18:4-20.
-
(1995)
J Inher Met Dis
, vol.18
, pp. 4-20
-
-
Poulton, J.1
Sewry, C.2
Potter, C.G.3
Bougeron, T.4
Chretian, D.5
Wijburg, F.A.6
Morten, K.J.7
Brown, G.8
-
29
-
-
0028868612
-
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: Genetic evidence based on patient's-derived rho degrees transformants
-
Tiranti V, Munaro M, Sandona D, Lamantea E, Rimoldi M, DiDonato S, Bisson • R, Zeviani M: Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants. Hum Mol Genet 1995, 4:2017-2023. Pioneered the use of patient-derived cells without mtDNA to investigate the genetic origin of an oxidative phosphorylation system defect.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2017-2023
-
-
Tiranti, V.1
Munaro, M.2
Sandona, D.3
Lamantea, E.4
Rimoldi, M.5
DiDonato, S.6
Bisson, R.7
Zeviani, M.8
-
30
-
-
0028998413
-
Duplications of mitochondrial DNA in Kearns-Sayre syndrome
-
Poulton J, Morten KJ, Marchington D, Weber K, Brown GK, Rotig A, Bindoff L: Duplications of mitochondrial DNA in Kearns-Sayre syndrome. Muscle Nerve 1995, (suppl 3):154-158.
-
(1995)
Muscle Nerve
, vol.3
, Issue.SUPPL.
, pp. 154-158
-
-
Poulton, J.1
Morten, K.J.2
Marchington, D.3
Weber, K.4
Brown, G.K.5
Rotig, A.6
Bindoff, L.7
-
31
-
-
0028948888
-
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy
-
Manfredi G, Servidei S, Bonilla E, Shanske S, Schon EA, DiMauro S, Moraes CT: High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy. Neurology 1995, 45: 762-768.
-
(1995)
Neurology
, vol.45
, pp. 762-768
-
-
Manfredi, G.1
Servidei, S.2
Bonilla, E.3
Shanske, S.4
Schon, E.A.5
DiMauro, S.6
Moraes, C.T.7
-
32
-
-
0029059278
-
Rearranged mitochondrial genomes are present in human oocytes
-
Chen X, Prosser R, Simonetti S, Sadlock J. Jagiello G, Schon EA: Rearranged • mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995, 57:239-247. Shows that partially-deleted mtDNA exist in human oocytes. This observation has many important implications for the accumulation of mtDNA deletions during aging.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 239-247
-
-
Chen, X.1
Prosser, R.2
Simonetti, S.3
Sadlock, J.4
Jagiello, G.5
Schon, E.A.6
-
33
-
-
0029996721
-
Multiple mtDNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
-
Bohlega S, Tanji K, Santorelli FL, Hirano M, al-Jashi A, DiMauro S: Multiple mtDNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996, 46:1329-1334.
-
(1996)
Neurology
, vol.46
, pp. 1329-1334
-
-
Bohlega, S.1
Tanji, K.2
Santorelli, F.L.3
Hirano, M.4
Al-Jashi, A.5
DiMauro, S.6
-
34
-
-
0028936222
-
Ragged-red fibers in normal aging and inflammatory myopathy
-
Rifai Z, Welle S, Kamp C, Thornton CA: Ragged-red fibers in normal aging and inflammatory myopathy. Ann Neurol 1995, 37:24-29.
-
(1995)
Ann Neurol
, vol.37
, pp. 24-29
-
-
Rifai, Z.1
Welle, S.2
Kamp, C.3
Thornton, C.A.4
-
35
-
-
0028942037
-
Late-onset mitochondrial myopathy
-
Johnston W, Karpati G, Carpenter S, Arnold D, Shoubridge EA: Late-onset mitochondrial myopathy. Ann Neurol 1995, 37:16-23.
-
(1995)
Ann Neurol
, vol.37
, pp. 16-23
-
-
Johnston, W.1
Karpati, G.2
Carpenter, S.3
Arnold, D.4
Shoubridge, E.A.5
-
36
-
-
0029019593
-
Mitochondrial DNA deletions in muscle fibers in Inclusion body myositis
-
Oldfors A, Moslemi AR, Fyhr IM, Holme E, Larsson NG, Lindberg C: Mitochondrial • DNA deletions In muscle fibers in Inclusion body myositis. J Neuropathol Exp Neurol 1995, 54:581-587. Shows that patients with inclusion body myositis have RRF caused by an expansion of specific mtDNA deletions. Different RRF have different mtDNA deletions.
-
(1995)
J Neuropathol Exp Neurol
, vol.54
, pp. 581-587
-
-
Oldfors, A.1
Moslemi, A.R.2
Fyhr, I.M.3
Holme, E.4
Larsson, N.G.5
Lindberg, C.6
-
37
-
-
0029091194
-
A mitochondrial DNA clone is associated with Increased risk for Alzheimer disease
-
Hutchin T, Cortopassi G: A mitochondrial DNA clone is associated with Increased risk for Alzheimer disease. Proc Natl Acad Sci USA 1995, 92:6892-6895.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 6892-6895
-
-
Hutchin, T.1
Cortopassi, G.2
-
38
-
-
0027200741
-
Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
-
Shoffner JM, Brown MD, Torrina A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R: Mitochondrial DNA variants observed In Alzheimer disease and Parkinson disease patients. Genomics 1993, 17:171-184.
-
(1993)
Genomics
, vol.17
, pp. 171-184
-
-
Shoffner, J.M.1
Brown, M.D.2
Torrina, A.3
Lott, M.T.4
Cabell, M.F.5
Mirra, S.S.6
Beal, M.F.7
Yang, C.C.8
Gearing, M.9
Salvo, R.10
-
39
-
-
0028843809
-
No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant
-
Wragg MA, Talbot CJ, Morris JC, Lendon CL, Gloate AM: No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant Neurosci Lett 1995, 201:107-110.
-
(1995)
Neurosci Lett
, vol.201
, pp. 107-110
-
-
Wragg, M.A.1
Talbot, C.J.2
Morris, J.C.3
Lendon, C.L.4
Gloate, A.M.5
-
40
-
-
0030066069
-
Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's patients
-
Brown MD, Shoffner JM, Kim YL, Jun AS, Grahan BH, Cabell MF, Gurley DS, Wallace DC: Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's patients. Am J Med Genet 1996, 61:283-289.
-
(1996)
Am J Med Genet
, vol.61
, pp. 283-289
-
-
Brown, M.D.1
Shoffner, J.M.2
Kim, Y.L.3
Jun, A.S.4
Grahan, B.H.5
Cabell, M.F.6
Gurley, D.S.7
Wallace, D.C.8
-
41
-
-
0029135073
-
The therapy of respiratory chain encephalomyopathy: A critical review of the past and current perspective
-
Walker UA, Byrne E: The therapy of respiratory chain encephalomyopathy: a critical review of the past and current perspective. Acta Neurol Scand 1995, 92:273-280.
-
(1995)
Acta Neurol Scand
, vol.92
, pp. 273-280
-
-
Walker, U.A.1
Byrne, E.2
-
42
-
-
0029072626
-
Short-term dichloroacetate treatment Improves indices of cerebral metabolism in patients with mitochondrial disorders
-
DeStefano N, Matthews PM, Ford B, Genge A, Karpati G, Arnold DL: Short-term dichloroacetate treatment Improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 1995, 45:1193-1198.
-
(1995)
Neurology
, vol.45
, pp. 1193-1198
-
-
DeStefano, N.1
Matthews, P.M.2
Ford, B.3
Genge, A.4
Karpati, G.5
Arnold, D.L.6
-
43
-
-
0345695142
-
Aerobic training and dichloroacetate treatment improve biochemical and functional parameters in patients with mitochondrial myopathy
-
Taivassalo T, De Stefano N, Matthews PM, Karpati G, Genge A, Arnold DL: Aerobic training and dichloroacetate treatment improve biochemical and functional parameters In patients with mitochondrial myopathy [Abstract]. Neurology 1996, 46(suppl):A421.
-
(1996)
Neurology
, vol.46
, Issue.SUPPL.
-
-
Taivassalo, T.1
De Stefano, N.2
Matthews, P.M.3
Karpati, G.4
Genge, A.5
Arnold, D.L.6
-
44
-
-
85035175181
-
Granulocyte colony stimulating factor and erythropietin therapy in Pearson's syndrome
-
Wallace DC, Fleming N, Krawiecki N, Yeager AM, Shoffner JM: Granulocyte colony stimulating factor and erythropietin therapy In Pearson's syndrome [Abstract]. Neurology 1996, 46(suppl):A421.
-
(1996)
Neurology
, vol.46
, Issue.SUPPL.
-
-
Wallace, D.C.1
Fleming, N.2
Krawiecki, N.3
Yeager, A.M.4
Shoffner, J.M.5
-
45
-
-
0029066771
-
The treatment of mitochondrial myopathies and encephalomyopathies
-
Peterson PL: The treatment of mitochondrial myopathies and encephalomyopathies. Biochim Biophys Acta 1995, 1271:275-280.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 275-280
-
-
Peterson, P.L.1
-
46
-
-
0029164362
-
Lipoic (thioctic) acid Increases brain energy availability and skeletal muscle performances as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy
-
Barbiroli B, Medori R, Tritschler H-J, Klopstock T, Seibel P, Reichmann H, lotti S, Lodi R, Zaniol P: Lipoic (thioctic) acid Increases brain energy availability and skeletal muscle performances as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy. J Neurol 1995, 242: 472-477.
-
(1995)
J Neurol
, vol.242
, pp. 472-477
-
-
Barbiroli, B.1
Medori, R.2
Tritschler, H.-J.3
Klopstock, T.4
Seibel, P.5
Reichmann, H.6
Lotti, S.7
Lodi, R.8
Zaniol, P.9
-
47
-
-
0028804570
-
Transfection of mitochondria: Strategy towards a gene therapy of mitochondria DNA diseases
-
Seibel P, Trappe J, Villani G, Klopstock T, Papa S, Reichmann H: Transfection • of mitochondria: strategy towards a gene therapy of mitochondria DNA diseases. Nuc Acids Res 1995, 23:10-17. This group demonstrated the feasibility of importing double-stranded DNA fragments into mitochondria through the protein import pathway.
-
(1995)
Nuc Acids Res
, vol.23
, pp. 10-17
-
-
Seibel, P.1
Trappe, J.2
Villani, G.3
Klopstock, T.4
Papa, S.5
Reichmann, H.6
-
48
-
-
0024536726
-
DNA-protein conjugates can enter mitochondria via the protein Import pathway
-
Vestweber D, Schatz G: DNA-protein conjugates can enter mitochondria via the protein Import pathway. Nature 1989, 338:170-172.
-
(1989)
Nature
, vol.338
, pp. 170-172
-
-
Vestweber, D.1
Schatz, G.2
-
49
-
-
0001802305
-
Mitochondrial biogenesis and genetics (part B)
-
Attardi GM, Chomyn A: Mitochondrial biogenesis and genetics (part B). •• Methods Enzymol 1996, 264:3-621. One of two volumes compiling many methodological descriptions written by experts in the field. A 'must have' for laboratories working on mitochondrial genetics, biogenesis or disease.
-
(1996)
Methods Enzymol
, vol.264
, pp. 3-621
-
-
Attardi, G.M.1
Chomyn, A.2
|