-
1
-
-
37349128215
-
A neurologic syndrome in golden retrievers presenting as a sensory ataxic neuropathy
-
DOI 10.1892/07-005.1
-
Jäderlund KH, Örvind E, Johnsson E, Matiasek K, Hahn CN, et al. (2007) A neurologic syndrome in Golden Retrievers presenting as a sensory ataxic neuropathy. J Vet Intern Med 21: 1307-1315. (Pubitemid 350303637)
-
(2007)
Journal of Veterinary Internal Medicine
, vol.21
, Issue.6
, pp. 1307-1315
-
-
Hultin Jaderlund, K.1
Orvind, E.2
Johnsson, E.3
Matiasek, K.4
Hahn, C.N.5
Malm, S.6
Hedhammar, A.7
-
2
-
-
33646855427
-
Mitochondrial DNA mutations in human disease
-
DOI 10.1080/15216540600686888, PII Q24274890X645
-
Greaves LC, Taylor RW (2006) Mitchondrial DNA mutations in human disease. IUBMB Life 58: 143-151. (Pubitemid 43786039)
-
(2006)
IUBMB Life
, vol.58
, Issue.3
, pp. 143-151
-
-
Greaves, L.C.1
Taylor, R.W.2
-
3
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial DNA mutations
-
DOI 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P
-
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, et al. (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48: 188-193. (Pubitemid 30617037)
-
(2000)
Annals of Neurology
, vol.48
, Issue.2
, pp. 188-193
-
-
Chinnery, P.F.1
Johnson, M.A.2
Wardell, T.M.3
Singh-Kler, R.4
Hayes, C.5
Brown, D.T.6
Taylor, R.W.7
Bindoff, L.A.8
Turnbull, D.M.9
-
4
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DOI 10.1056/NEJMra022567
-
DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348: 2656-2668. (Pubitemid 36741594)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.26
, pp. 2656-2668
-
-
Dimauro, S.1
Schon, E.A.2
-
6
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
DOI 10.1038/nrg1606
-
Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6: 389-402. (Pubitemid 40577182)
-
(2005)
Nature Reviews Genetics
, vol.6
, Issue.5
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
8
-
-
0346743541
-
Impact of disease-related mitochondrial mutations on tRNA structure and function
-
DOI 10.1016/j.tibs.2003.09.006, PII S0968000403002305
-
Wittenhagen LM, Kelley SO (2003) Impact of disease-related mitochondrial mutations on tRNA structure and function. Trends Biochem Sci 28: 605-611. (Pubitemid 38352807)
-
(2003)
Trends in Biochemical Sciences
, vol.28
, Issue.11
, pp. 605-611
-
-
Wittenhagen, L.M.1
Kelley, S.O.2
-
9
-
-
38949120469
-
Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease
-
DOI 10.1002/mus.20917
-
Scaglia F, Wong LJ (2008) Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve 37: 150-171. (Pubitemid 351214161)
-
(2008)
Muscle and Nerve
, vol.37
, Issue.2
, pp. 150-171
-
-
Scaglia, F.1
Wong, L.-J.C.2
-
10
-
-
38949091096
-
Strong purifying selection in transmission of mammalian mitochondrial DNA
-
DOI 10.1371/journal.pbio.0060010
-
Stewart JB, Freyer C, Elson JL, Wredenberg A, Cansu Z, et al. (2008) Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol 6: e10. (Pubitemid 351226047)
-
(2008)
PLoS Biology
, vol.6
, Issue.1
, pp. 63-71
-
-
Stewart, J.B.1
Freyer, C.2
Elson, J.L.3
Wredenberg, A.4
Cansu, Z.5
Trifunovic, A.6
Larsson, N.-G.7
-
11
-
-
2642580016
-
Premature ageing in mice expressing defective mitochondrial DNA polymerase
-
DOI 10.1038/nature02517
-
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, et al. (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429: 417-423. (Pubitemid 38715133)
-
(2004)
Nature
, vol.429
, Issue.6990
, pp. 417-423
-
-
Trifunovic, A.1
Wredenberg, A.2
Falkenberg, M.3
Spelbrink, J.N.4
Rovio, A.T.5
Bruder, C.E.6
Bohlooly-Y, M.7
Gldlof, S.8
Oldfors, A.9
Wibom, R.10
Tornell, J.11
Jacobs, H.T.12
Larsson, N.-G.13
-
12
-
-
0037069398
-
Increased mitochondrial mass in mitochondrial myopathy mice
-
DOI 10.1073/pnas.232591499
-
Wredenberg A, Wibom R, Wilhelmsson H, Graff C, Wiener HH, et al. (2002) Increased mitochondrial mass in mitochondrial myopathy mice. Proc Natl Acad Sci U S A 99: 15066-15071. (Pubitemid 35334610)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.23
, pp. 15066-15071
-
-
Wredenberg, A.1
Wibom, R.2
Wilhelmsson, H.3
Graff, C.4
Wiener, H.H.5
Burden, S.J.6
Oldfors, A.7
Westerblad, H.8
Larsson, N.-G.9
-
13
-
-
0026090209
-
Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): A clinical, biochemical and molecular study
-
Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier JF, Serratrice G, et al. (1991) Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. J Neurol Sci 102: 17-24.
-
(1991)
J Neurol Sci
, vol.102
, pp. 17-24
-
-
Bindoff, L.A.1
Desnuelle, C.2
Birch-Machin, M.A.3
Pellissier, J.F.4
Serratrice, G.5
-
14
-
-
0036794004
-
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients harboring the A3243G point mutation or large-scale deletions of mitochondrial DNA
-
Vielhaber S, Varlamov DA, Kudina TA, Schröder R, Kappes-Horn K, et al. (2002) Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients harboring the A3243G point mutation or large-scale deletions of mitochondrial DNA. J Neuropathol Exp Neurol 61: 885-895.
-
(2002)
J Neuropathol Exp Neurol
, vol.61
, pp. 885-895
-
-
Vielhaber, S.1
Varlamov, D.A.2
Kudina, T.A.3
Schröder, R.4
Kappes-Horn, K.5
-
15
-
-
0027724460
-
Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency
-
von Döbeln U, Wibom R, Ahlman H, Nennesmo I, Nyctelius H, et al. (1993) Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency. Acta Paediatr 82: 1079-1081. (Pubitemid 24051405)
-
(1993)
Acta Paediatrica, International Journal of Paediatrics
, vol.82
, Issue.12
, pp. 1079-1081
-
-
Von Dobeln, U.1
Wibom, R.2
Ahlman, H.3
Nennesmo, I.4
Nyctelius, H.5
Hultman, E.6
Hagenfeldt, L.7
-
16
-
-
43049151118
-
Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration
-
DOI 10.1093/hmg/ddn030
-
Dufour E, Terzioglu M, Sterky FH, Sörensen L, Galter D, et al. (2008) Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration. Hum Mol Genet 17: 1418-1426. (Pubitemid 351627338)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.10
, pp. 1418-1426
-
-
Dufour, E.1
Terzioglu, M.2
Sterky, F.H.3
Sorensen, L.4
Galter, D.5
Olson, L.6
Wilbertz, J.7
Larsson, N.-G.8
-
17
-
-
10644225224
-
Pathology of skeletal muscle in mitochondrial disorders
-
DOI 10.1016/j.mito.2004.07.036, PII S1567724904001369
-
Bourgeois JM, Tarnopolsky MA (2004) Pathology of skeletal muscle in mitochondrial disorders. Mitochondrion 4: 441-452. (Pubitemid 39646797)
-
(2004)
Mitochondrion
, vol.4
, Issue.5-6 SPEC. ISS
, pp. 441-452
-
-
Bourgeois, J.M.1
Tarnopolsky, M.A.2
-
18
-
-
1842431796
-
Biochemical evaluation of mitochondrial respiratory chain enzymes in canine skeletal muscle
-
DOI 10.2460/ajvr.2004.65.480
-
Wakshlag JJ, Cooper BJ, Wakshlag RR, Kallfelz FA, Barr SC, et al. (2004) Biochemical evaluation of mitochondrial respiratory chain enzymes in canine skeletal muscle. Am J Vet Res 65: 480-484. (Pubitemid 38455791)
-
(2004)
American Journal of Veterinary Research
, vol.65
, Issue.4
, pp. 480-484
-
-
Wakshlag, J.J.1
Cooper, B.J.2
Wakshlag, R.R.3
Kallfelz, F.A.4
Barr, S.C.5
Nydam, D.V.6
Dimauro, S.7
-
19
-
-
20344366079
-
Mitochondrial DNA and disease
-
DOI 10.1080/07853890510007368
-
DiMauro S, Davidzon G (2005) Mitochondrial DNA and disease. Ann Med 37: 222-232. (Pubitemid 40780440)
-
(2005)
Annals of Medicine
, vol.37
, Issue.3
, pp. 222-232
-
-
Dimauro, S.1
Davidzon, G.2
-
20
-
-
0038238874
-
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy
-
Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, et al. (2003) A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol 41: 1786-1796.
-
(2003)
J Am Coll Cardiol
, vol.41
, pp. 1786-1796
-
-
Taylor, R.W.1
Giordano, C.2
Davidson, M.M.3
D'Amati, G.4
Bain, H.5
-
21
-
-
29144458974
-
Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b
-
DOI 10.1016/j.nbd.2005.06.009, PII S0969996105001701
-
Li FY, Cuddon PA, Song J, Wood SL, Patterson JS, et al. (2006) Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b. Neurobiol Dis 21: 35-42. (Pubitemid 41817303)
-
(2006)
Neurobiology of Disease
, vol.21
, Issue.1
, pp. 35-42
-
-
Li, F.-Y.1
Cuddon, P.A.2
Song, J.3
Wood, S.L.4
Patterson, J.S.5
Shelton, G.D.6
Duncan, I.D.7
-
22
-
-
0031131992
-
Suspected mitochondrial myopathy in a Jack Russell terrier
-
Olby NJ, Chan KK, Targett MP, Houlton JE (1997) Suspected mitochondrial myopathy in a Jack Russel terrier. J Small Anim Pract 38: 213-216. (Pubitemid 127518887)
-
(1997)
Journal of Small Animal Practice
, vol.38
, Issue.5
, pp. 213-216
-
-
Olby, N.J.1
Chan, K.K.2
Targett, M.P.3
Houlton, J.E.F.4
-
23
-
-
0026912723
-
Episodic weakness associated with exertional lactic acidosis and myopathy in Old English sheepdog littermates
-
Breitschwerdt EB, Kornegay JN, Wheeler SJ, Stevens JB, Baty CJ (1992) Episodic weakness associated with exertional lactic acidosis and myopathy in Old English sheepdog littermates. J Am Vet Med Assoc 201: 731-736.
-
(1992)
J Am Vet Med Assoc
, vol.201
, pp. 731-736
-
-
Breitschwerdt, E.B.1
Kornegay, J.N.2
Wheeler, S.J.3
Stevens, J.B.4
Baty, C.J.5
-
24
-
-
0028072430
-
Canine mitochondrial myopathy associated with reduced mitochondrial mRNA and altered cytochrome c oxidase activities in fibroblasts and skeletal muscle
-
DOI 10.1016/0300-9629(94)90236-4
-
Vijayasarathy C, Giger U, Prociuk U, Patterson DF, Breitschwerdt EB, et al. (1994) Canine mitochondrial myopathy associated with reduced mitochondrial mRNA and altered cytochrome c oxidase activities in fibroblasts and skeletal muscle. Comp Biochem Physiol A Physiol 109: 887-894. (Pubitemid 24355039)
-
(1994)
Comparative Biochemistry and Physiology - a Physiology
, vol.109
, Issue.4
, pp. 887-894
-
-
Vijayasarathy, C.1
Giger, U.2
Prociuk, U.3
Patterson, D.F.4
Breitschwerdt, E.B.5
Avadhani, N.G.6
-
25
-
-
0034711156
-
A novel mutation in the mitochondrial tRNA(Tyr) gene associated witn exercise intolerance
-
Pulkes T, Siddiqui A, Morgan-Hughes JA, Hanna MG (2000) A novel mutation in the mitochondrial tRNA Tyr gene associated with exercise intolerance. Neurology 55: 1210-1212. (Pubitemid 30803003)
-
(2000)
Neurology
, vol.55
, Issue.8
, pp. 1210-1212
-
-
Pulkes, T.1
Siddiqui, A.2
Morgan-Hughes, J.A.3
Hanna, M.G.4
-
26
-
-
0034796328
-
Tyr mutation (5877G→A) associated with familial chronic progressive external ophthalmoplegia [4]
-
Sahashi K, Yoneda M, Ohno K, Tanaka M, Ibi T, et al. (2001) Functional characteristics of mitochondrial tRNATyr mutation (5877G→A) associated with familial chronic progressive external ophthalmoplegia. J Med Genet 38: 703-705. (Pubitemid 32946793)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.10
, pp. 703-705
-
-
Sahashi, K.1
Yoneda, M.2
Ohno, K.3
Tanaka, M.4
Ibi, T.5
Sahashi, K.6
-
27
-
-
0035956551
-
Tyr gene
-
Raffelsberger T, Rossmanith W, Thaller-Antlanger H, Bittner RE (2001) CPEO associated with a single nucleotide deletion in the mitochondrial tRNA Tyr gene. Neurology 57: 2298-2301. (Pubitemid 34016467)
-
(2001)
Neurology
, vol.57
, Issue.12
, pp. 2298-2301
-
-
Raffelsberger, T.1
Rossmanith, W.2
Thaller-Antlanger, H.3
Bittner, R.E.4
-
28
-
-
0242594752
-
Tyr Gene Associated with Atypical Mitochondrial Cytopathy Presenting with Focal Segmental Glomerulosclerosis
-
Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, et al. (2003) Novel homoplasmic mutation in the mitochondrial tRNA Tyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A 123A: 172-178. (Pubitemid 37429599)
-
(2003)
American Journal of Medical Genetics
, vol.123 A
, Issue.2
, pp. 172-178
-
-
Scaglia, F.1
Vogel, H.2
Hawkins, E.P.3
Vladutiu, G.D.4
Liu, L.-L.5
Wong, L.-J.C.6
-
29
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
-
(2000)
Methods Mol Biol
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
30
-
-
25844458478
-
Hfq-dependent regulation of OmpA synthesis is mediated by an antisense RNA
-
DOI 10.1101/gad.354405
-
Udekwu K, Darfeuille F, Vogel J, Reimegård J, Holmqvist E, et al. (2005) Hfq-dependent regulation of OmpA synthesis is mediated by an antisense RNA. Genes Dev 19: 2355-2366. (Pubitemid 41396912)
-
(2005)
Genes and Development
, vol.19
, Issue.19
, pp. 2355-2366
-
-
Udekwu, K.I.1
Darfeuille, F.2
Vogel, J.3
Reimegard, J.4
Holmqvist, E.5
Wagner, E.G.H.6
-
31
-
-
0037115029
-
Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples
-
DOI 10.1016/S0003-2697(02)00424-4, PII S0003269702004244
-
Wibom R, Hagenfeldt L, von Döbeln U (2002) Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples. Anal Biochem 311: 139-151. (Pubitemid 35469160)
-
(2002)
Analytical Biochemistry
, vol.311
, Issue.2
, pp. 139-151
-
-
Wibom, R.1
Hagenfeldt, L.2
Von Dobeln, U.3
|