-
1
-
-
4444306357
-
Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle
-
Allikian M.J., Hack A.A., Mewborn S., Mayer U., McNally E.M. Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle. J. Cell Sci. 2004, 117:3821-3830.
-
(2004)
J. Cell Sci.
, vol.117
, pp. 3821-3830
-
-
Allikian, M.J.1
Hack, A.A.2
Mewborn, S.3
Mayer, U.4
McNally, E.M.5
-
2
-
-
3543029271
-
Mitochondrial diseases
-
DiMauro S. Mitochondrial diseases. Biochim. Biophys. Acta 2004, 1658:80-88.
-
(2004)
Biochim. Biophys. Acta
, vol.1658
, pp. 80-88
-
-
DiMauro, S.1
-
3
-
-
46449116988
-
Mitochondrial DNA mutations may contribute to aging via cell death caused by peptides that induce cytochrome c release
-
Dubec S.J., Aurora R., Zassenhaus H.P. Mitochondrial DNA mutations may contribute to aging via cell death caused by peptides that induce cytochrome c release. Rejuvenation Res. 2008, 11:611-619.
-
(2008)
Rejuvenation Res.
, vol.11
, pp. 611-619
-
-
Dubec, S.J.1
Aurora, R.2
Zassenhaus, H.P.3
-
4
-
-
0029059067
-
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination
-
Enriquez J.A., Chomyn A., Attardi G. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nat. Genet. 1995, 10:47-55.
-
(1995)
Nat. Genet.
, vol.10
, pp. 47-55
-
-
Enriquez, J.A.1
Chomyn, A.2
Attardi, G.3
-
5
-
-
0142151077
-
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression
-
Fanin M., Nascimbeni A.C., Fulizio L., Trevisan C.P., Meznaric-Petrusa M., Angelini C. Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Am. J. Pathol. 2003, 163:1929-1936.
-
(2003)
Am. J. Pathol.
, vol.163
, pp. 1929-1936
-
-
Fanin, M.1
Nascimbeni, A.C.2
Fulizio, L.3
Trevisan, C.P.4
Meznaric-Petrusa, M.5
Angelini, C.6
-
6
-
-
0025630063
-
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies
-
Goto Y., Koga Y., Horai S., Nonaka I. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J. Neurol. Sci. 1990, 100:63-69.
-
(1990)
J. Neurol. Sci.
, vol.100
, pp. 63-69
-
-
Goto, Y.1
Koga, Y.2
Horai, S.3
Nonaka, I.4
-
7
-
-
84858734537
-
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies
-
Hauerslev S., Sveen M.L., Duno M., Angelini C., Vissing J., Krag T.O. Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. BMC Musculoskelet. Disord. 2012, 13:43.
-
(2012)
BMC Musculoskelet. Disord.
, vol.13
, pp. 43
-
-
Hauerslev, S.1
Sveen, M.L.2
Duno, M.3
Angelini, C.4
Vissing, J.5
Krag, T.O.6
-
8
-
-
0030809116
-
Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies
-
Hodges B.L., Hayashi Y.K., Nonaka I., Wang W., Arahata K., Kaufman S.J. Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. J. Cell Sci. 1997, 110:2873-2881.
-
(1997)
J. Cell Sci.
, vol.110
, pp. 2873-2881
-
-
Hodges, B.L.1
Hayashi, Y.K.2
Nonaka, I.3
Wang, W.4
Arahata, K.5
Kaufman, S.J.6
-
9
-
-
0042329580
-
Late onset of stroke-like episode associated with a 3256C->T point mutation of mitochondrial DNA
-
Jeppesen T.D., Schwartz M., Hansen K., Danielsen E.R., Wibrand F., Vissing J. Late onset of stroke-like episode associated with a 3256C->T point mutation of mitochondrial DNA. J. Neurol. Sci. 2003, 214:17-20.
-
(2003)
J. Neurol. Sci.
, vol.214
, pp. 17-20
-
-
Jeppesen, T.D.1
Schwartz, M.2
Hansen, K.3
Danielsen, E.R.4
Wibrand, F.5
Vissing, J.6
-
10
-
-
0038800037
-
Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy
-
Jeppesen T.D., Schwartz M., Olsen D.B., Vissing J. Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy. Ann. Neurol. 2003, 54:86-92.
-
(2003)
Ann. Neurol.
, vol.54
, pp. 86-92
-
-
Jeppesen, T.D.1
Schwartz, M.2
Olsen, D.B.3
Vissing, J.4
-
11
-
-
33845528829
-
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation
-
Jeppesen T.D., Schwartz M., Frederiksen A.L., Wibrand F., Olsen D.B., Vissing J. Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. Arch. Neurol. 2006, 63:1701-1706.
-
(2006)
Arch. Neurol.
, vol.63
, pp. 1701-1706
-
-
Jeppesen, T.D.1
Schwartz, M.2
Frederiksen, A.L.3
Wibrand, F.4
Olsen, D.B.5
Vissing, J.6
-
12
-
-
43049121302
-
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
-
Jeppesen T.D., Schwartz M., Colding-Jorgensen E., Krag T., Hauerslev S., Vissing J. Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. Neuromuscul. Disord. 2008, 18:306-309.
-
(2008)
Neuromuscul. Disord.
, vol.18
, pp. 306-309
-
-
Jeppesen, T.D.1
Schwartz, M.2
Colding-Jorgensen, E.3
Krag, T.4
Hauerslev, S.5
Vissing, J.6
-
13
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J., Juselius J.K., Tiranti V., Kyttala A., Zeviani M., Comi G.P., Keranen S., Peltonen L., Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000, 289:782-785.
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
Keranen, S.7
Peltonen, L.8
Suomalainen, A.9
-
14
-
-
0025534162
-
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
-
Kobayashi Y., Momoi M.Y., Tominaga K., Momoi T., Nihei K., Yanagisawa M., Kagawa Y., Ohta S. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem. Biophys. Res. Commun. 1990, 173:816-822.
-
(1990)
Biochem. Biophys. Res. Commun.
, vol.173
, pp. 816-822
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
Momoi, T.4
Nihei, K.5
Yanagisawa, M.6
Kagawa, Y.7
Ohta, S.8
-
15
-
-
84860346033
-
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity
-
Krag T.O., Hauerslev S., Sveen M.L., Schwartz M., Vissing J. Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity. Skelet. Muscle 2011, 1:31.
-
(2011)
Skelet. Muscle
, vol.1
, pp. 31
-
-
Krag, T.O.1
Hauerslev, S.2
Sveen, M.L.3
Schwartz, M.4
Vissing, J.5
-
16
-
-
22344456832
-
Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging
-
Kujoth G.C., Hiona A., Pugh T.D., Someya S., Panzer K., Wohlgemuth S.E., Hofer T., Seo A.Y., Sullivan R., Jobling W.A., Morrow J.D., Van R.H., Sedivy J.M., Yamasoba T., Tanokura M., Weindruch R., Leeuwenburgh C., Prolla T.A. Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 2005, 309:481-484.
-
(2005)
Science
, vol.309
, pp. 481-484
-
-
Kujoth, G.C.1
Hiona, A.2
Pugh, T.D.3
Someya, S.4
Panzer, K.5
Wohlgemuth, S.E.6
Hofer, T.7
Seo, A.Y.8
Sullivan, R.9
Jobling, W.A.10
Morrow, J.D.11
Van, R.H.12
Sedivy, J.M.13
Yamasoba, T.14
Tanokura, M.15
Weindruch, R.16
Leeuwenburgh, C.17
Prolla, T.A.18
-
17
-
-
0029068494
-
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients
-
Laforet P., Lombes A., Eymard B., Danan C., Chevallay M., Rouche A., Frachon P., Fardeau M. Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. Neuromuscul. Disord. 1995, 5:399-413.
-
(1995)
Neuromuscul. Disord.
, vol.5
, pp. 399-413
-
-
Laforet, P.1
Lombes, A.2
Eymard, B.3
Danan, C.4
Chevallay, M.5
Rouche, A.6
Frachon, P.7
Fardeau, M.8
-
18
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
Lamantea E., Tiranti V., Bordoni A., Toscano A., Bono F., Servidei S., Papadimitriou A., Spelbrink H., Silvestri L., Casari G., Comi G.P., Zeviani M. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann. Neurol. 2002, 52:211-219.
-
(2002)
Ann. Neurol.
, vol.52
, pp. 211-219
-
-
Lamantea, E.1
Tiranti, V.2
Bordoni, A.3
Toscano, A.4
Bono, F.5
Servidei, S.6
Papadimitriou, A.7
Spelbrink, H.8
Silvestri, L.9
Casari, G.10
Comi, G.P.11
Zeviani, M.12
-
19
-
-
0030839605
-
Myogenic regulatory factors during regeneration of skeletal muscle in young, adult, and old rats
-
Marsh D.R., Criswell D.S., Carson J.A., Booth F.W. Myogenic regulatory factors during regeneration of skeletal muscle in young, adult, and old rats. J. Appl. Physiol. 1997, 83:1270-1275.
-
(1997)
J. Appl. Physiol.
, vol.83
, pp. 1270-1275
-
-
Marsh, D.R.1
Criswell, D.S.2
Carson, J.A.3
Booth, F.W.4
-
20
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., DiMauro S., Zeviani M., Lombes A., Shanske S., Miranda A.F., Nakase H., Bonilla E., Werneck L.C., Servidei S. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N. Engl. J. Med. 1989, 320:1293-1299.
-
(1989)
N. Engl. J. Med.
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
Nakase, H.7
Bonilla, E.8
Werneck, L.C.9
Servidei, S.10
-
21
-
-
36749007778
-
Terminally differentiated muscle cells are defective in base excision DNA repair and hypersensitive to oxygen injury
-
Narciso L., Fortini P., Pajalunga D., Franchitto A., Liu P., Degan P., Frechet M., Demple B., Crescenzi M., Dogliotti E. Terminally differentiated muscle cells are defective in base excision DNA repair and hypersensitive to oxygen injury. Proc. Natl. Acad. Sci. U. S. A. 2007, 104:17010-17015.
-
(2007)
Proc. Natl. Acad. Sci. U. S. A.
, vol.104
, pp. 17010-17015
-
-
Narciso, L.1
Fortini, P.2
Pajalunga, D.3
Franchitto, A.4
Liu, P.5
Degan, P.6
Frechet, M.7
Demple, B.8
Crescenzi, M.9
Dogliotti, E.10
-
22
-
-
0345016025
-
Muscle structural changes in mitochondrial myopathy relate to genotype
-
Olsen D.B., Langkilde A.R., Orngreen M.C., Rostrup E., Schwartz M., Vissing J. Muscle structural changes in mitochondrial myopathy relate to genotype. J. Neurol. 2003, 250:1328-1334.
-
(2003)
J. Neurol.
, vol.250
, pp. 1328-1334
-
-
Olsen, D.B.1
Langkilde, A.R.2
Orngreen, M.C.3
Rostrup, E.4
Schwartz, M.5
Vissing, J.6
-
23
-
-
0019966026
-
Fetal myosin heavy chains in regenerating muscle
-
Sartore S., Gorza L., Schiaffino S. Fetal myosin heavy chains in regenerating muscle. Nature 1982, 298:294-296.
-
(1982)
Nature
, vol.298
, pp. 294-296
-
-
Sartore, S.1
Gorza, L.2
Schiaffino, S.3
-
24
-
-
0037158599
-
Paternal inheritance of mitochondrial DNA
-
Schwartz M., Vissing J. Paternal inheritance of mitochondrial DNA. N. Engl. J. Med. 2002, 347:576-580.
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 576-580
-
-
Schwartz, M.1
Vissing, J.2
-
25
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner J.M., Lott M.T., Lezza A.M., Seibel P., Ballinger S.W., Wallace D.C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990, 61:931-937.
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
26
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink J.N., Li F.Y., Tiranti V., Nikali K., Yuan Q.P., Tariq M., Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G.M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A., Jacobs H.T., Zeviani M., Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat. Genet. 2001, 28:223-231.
-
(2001)
Nat. Genet.
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
Wanrooij, S.7
Garrido, N.8
Comi, G.9
Morandi, L.10
Santoro, L.11
Toscano, A.12
Fabrizi, G.M.13
Somer, H.14
Croxen, R.15
Beeson, D.16
Poulton, J.17
Suomalainen, A.18
Jacobs, H.T.19
Zeviani, M.20
Larsson, C.21
more..
-
27
-
-
29144458899
-
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production
-
Trifunovic A., Hansson A., Wredenberg A., Rovio A.T., Dufour E., Khvorostov I., Spelbrink J.N., Wibom R., Jacobs H.T., Larsson N.G. Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:17993-17998.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 17993-17998
-
-
Trifunovic, A.1
Hansson, A.2
Wredenberg, A.3
Rovio, A.T.4
Dufour, E.5
Khvorostov, I.6
Spelbrink, J.N.7
Wibom, R.8
Jacobs, H.T.9
Larsson, N.G.10
-
28
-
-
29144486726
-
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
-
Tyynismaa H., Mjosund K.P., Wanrooij S., Lappalainen I., Ylikallio E., Jalanko A., Spelbrink J.N., Paetau A., Suomalainen A. Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:17687-17692.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 17687-17692
-
-
Tyynismaa, H.1
Mjosund, K.P.2
Wanrooij, S.3
Lappalainen, I.4
Ylikallio, E.5
Jalanko, A.6
Spelbrink, J.N.7
Paetau, A.8
Suomalainen, A.9
-
29
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van G.G., Dermaut B., Lofgren A., Martin J.J., Van B.C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 2001, 28:211-212.
-
(2001)
Nat. Genet.
, vol.28
, pp. 211-212
-
-
Van, G.G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van, B.C.5
-
30
-
-
0031801084
-
A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance
-
Vissing J., Salamon M.B., Arlien-Soborg P., Norby S., Manta P., DiMauro S., Schmalbruch H. A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance. Neurology 1998, 50:1875-1878.
-
(1998)
Neurology
, vol.50
, pp. 1875-1878
-
-
Vissing, J.1
Salamon, M.B.2
Arlien-Soborg, P.3
Norby, S.4
Manta, P.5
DiMauro, S.6
Schmalbruch, H.7
|