-
1
-
-
34047109743
-
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
-
Scheper G.C., van der Klok T., van Andel R.J., van Berkel C.G., Sissler M., Smet J., Muravina T.I., Serkov S.V., Uziel G., Bugiani M., Schiffmann R., Krageloh-Mann I., Smeitink J.A., Florentz C., van Coster R., Pronk J.C., and van der Knaap M.S. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat. Genet. 39 (2007) 534-539
-
(2007)
Nat. Genet.
, vol.39
, pp. 534-539
-
-
Scheper, G.C.1
van der Klok, T.2
van Andel, R.J.3
van Berkel, C.G.4
Sissler, M.5
Smet, J.6
Muravina, T.I.7
Serkov, S.V.8
Uziel, G.9
Bugiani, M.10
Schiffmann, R.11
Krageloh-Mann, I.12
Smeitink, J.A.13
Florentz, C.14
van Coster, R.15
Pronk, J.C.16
van der Knaap, M.S.17
-
2
-
-
19444380425
-
Nuclear genes and mitochondrial translation: a new class of genetic disease
-
Jacobs H.T., and Turnbull D.M. Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet. 21 (2005) 312-314
-
(2005)
Trends Genet.
, vol.21
, pp. 312-314
-
-
Jacobs, H.T.1
Turnbull, D.M.2
-
3
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor R.W., and Turnbull D.M. Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 6 (2005) 389-402
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
4
-
-
9144268494
-
Defective mitochondrial translation due to a ribosomal protein (MRPS16) mutation
-
Miller C., Saada A., Shaul N., Shabtai N., Ben-Shalom E., Shaag A., Hershkovitz E., and Elpeleg O. Defective mitochondrial translation due to a ribosomal protein (MRPS16) mutation. Ann. Neurol. 56 (2004) 734-738
-
(2004)
Ann. Neurol.
, vol.56
, pp. 734-738
-
-
Miller, C.1
Saada, A.2
Shaul, N.3
Shabtai, N.4
Ben-Shalom, E.5
Shaag, A.6
Hershkovitz, E.7
Elpeleg, O.8
-
5
-
-
37249071299
-
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation
-
Saada A., Shaag A., Arnon S., Dolfin T., Miller C., Fuchs-Telem D., Lombes A., and Elpeleg O. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J. Med. Genet. 44 (2007) 784-786
-
(2007)
J. Med. Genet.
, vol.44
, pp. 784-786
-
-
Saada, A.1
Shaag, A.2
Arnon, S.3
Dolfin, T.4
Miller, C.5
Fuchs-Telem, D.6
Lombes, A.7
Elpeleg, O.8
-
6
-
-
35348983348
-
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
-
Edvardson S., Shaag A., Kolesnikova O., Gomori J.M., Tarassov I., Einbinder T., Saada A., and Elpeleg O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am. J. Hum. Genet. 81 (2007) 857-862
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 857-862
-
-
Edvardson, S.1
Shaag, A.2
Kolesnikova, O.3
Gomori, J.M.4
Tarassov, I.5
Einbinder, T.6
Saada, A.7
Elpeleg, O.8
-
7
-
-
33751085653
-
Distinct clinical phenotype associated with a mutation in the mitochondrial translation elongation factor EFTs
-
Smeitink J.A., Elpeleg O., Antonicka H., Diepstra H., Saada A., Smits P., Sasarman F., Vriend G., Jacob-Hirsch J., Shaag A., Rechavi G., Welling B., Horst J., Rodenburg R.J., van den Heuvel B., and Shoubridge E.A. Distinct clinical phenotype associated with a mutation in the mitochondrial translation elongation factor EFTs. Am. J. Hum. Genet. 79 (2006) 869-877
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 869-877
-
-
Smeitink, J.A.1
Elpeleg, O.2
Antonicka, H.3
Diepstra, H.4
Saada, A.5
Smits, P.6
Sasarman, F.7
Vriend, G.8
Jacob-Hirsch, J.9
Shaag, A.10
Rechavi, G.11
Welling, B.12
Horst, J.13
Rodenburg, R.J.14
van den Heuvel, B.15
Shoubridge, E.A.16
-
8
-
-
33846006253
-
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
-
Valente L., Tiranti V., Marsano R.M., Malfatti E., Fernandez-Vizarra E., Donnini C., Mereghetti P., De Gioia L., Burlina A., Castellan C., Comi G.P., Savasta S., Ferrero I., and Zeviani M. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am. J. Hum. Genet. 80 (2007) 44-58
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 44-58
-
-
Valente, L.1
Tiranti, V.2
Marsano, R.M.3
Malfatti, E.4
Fernandez-Vizarra, E.5
Donnini, C.6
Mereghetti, P.7
De Gioia, L.8
Burlina, A.9
Castellan, C.10
Comi, G.P.11
Savasta, S.12
Ferrero, I.13
Zeviani, M.14
-
9
-
-
20044392682
-
Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene
-
't Hart L.M., Hansen T., Rietveld I., Dekker J.M., Nijpels G., Janssen G.M., Arp P.A., Uitterlinden A.G., Jorgensen T., Borch-Johnsen K., Pols H.A., Pedersen O., van Duijn C.M., Heine R.J., and Maassen J.A. Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene. Diabetes 54 (2005) 1892-1895
-
(2005)
Diabetes
, vol.54
, pp. 1892-1895
-
-
't Hart, L.M.1
Hansen, T.2
Rietveld, I.3
Dekker, J.M.4
Nijpels, G.5
Janssen, G.M.6
Arp, P.A.7
Uitterlinden, A.G.8
Jorgensen, T.9
Borch-Johnsen, K.10
Pols, H.A.11
Pedersen, O.12
van Duijn, C.M.13
Heine, R.J.14
Maassen, J.A.15
-
10
-
-
8344259033
-
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
-
Coenen M.J., Antonicka H., Ugalde C., Sasarman F., Rossi R., Heister J.G., Newbold R.F., Trijbels F.J., van den Heuvel L.P., Shoubridge E.A., and Smeitink J.A. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351 (2004) 2080-2086
-
(2004)
N. Engl. J. Med.
, vol.351
, pp. 2080-2086
-
-
Coenen, M.J.1
Antonicka, H.2
Ugalde, C.3
Sasarman, F.4
Rossi, R.5
Heister, J.G.6
Newbold, R.F.7
Trijbels, F.J.8
van den Heuvel, L.P.9
Shoubridge, E.A.10
Smeitink, J.A.11
-
11
-
-
33744752749
-
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1
-
Antonicka H., Sasarman F., Kennaway N.G., and Shoubridge E.A. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum. Mol. Genet. 5 (2006) 1835-1846
-
(2006)
Hum. Mol. Genet.
, vol.5
, pp. 1835-1846
-
-
Antonicka, H.1
Sasarman, F.2
Kennaway, N.G.3
Shoubridge, E.A.4
-
12
-
-
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., and Vissing J. Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. Arch. Neurol. 63 (2006) 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
-
13
-
-
0031958231
-
Mitochondrial genetics and hearing loss: the missing link between genotype and phenotype
-
Fischel-Ghodsian N. Mitochondrial genetics and hearing loss: the missing link between genotype and phenotype. Proc. Soc. Exp. Biol. Med. 218 (1998) 1-6
-
(1998)
Proc. Soc. Exp. Biol. Med.
, vol.218
, pp. 1-6
-
-
Fischel-Ghodsian, N.1
-
14
-
-
0033808703
-
Homoplasmic mitochondrial diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders
-
Fischel-Ghodsian N. Homoplasmic mitochondrial diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders. Mol. Genet. Metab. 71 (2000) 93-99
-
(2000)
Mol. Genet. Metab.
, vol.71
, pp. 93-99
-
-
Fischel-Ghodsian, N.1
-
15
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Öztas S., Qiu W.Q., Arnos K.S., Cortopassi G.A., Jaber L., Rotter J.I., Shohat M., and Fischel-Ghodsian N. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4 (1993) 289-294
-
(1993)
Nat. Genet.
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Öztas, S.5
Qiu, W.Q.6
Arnos, K.S.7
Cortopassi, G.A.8
Jaber, L.9
Rotter, J.I.10
Shohat, M.11
Fischel-Ghodsian, N.12
-
16
-
-
1942425120
-
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation
-
Bykhovskaya Y., Mengesha E., Wang D., Yang H., Estivill X., Shohat M., and Fischel-Ghodsian N. Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol. Genet. Metab. 82 (2004) 27-32
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 27-32
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
Yang, H.4
Estivill, X.5
Shohat, M.6
Fischel-Ghodsian, N.7
-
17
-
-
8144221376
-
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3
-
Bykhovskaya Y., Mengesha E., Wang D., Yang H., Estivill X., Shohat M., and Fischel-Ghodsian N. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol. Genet. Metab. 83 (2004) 199-206
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 199-206
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
Yang, H.4
Estivill, X.5
Shohat, M.6
Fischel-Ghodsian, N.7
-
18
-
-
33644879973
-
Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations
-
Yan Q., Bykhovskaya Y., Li R., Mengesha E., Shohat M., Estivill X., Fischel-Ghodsian N., and Guan M.X. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. Biochem. Biophys. Res. Commun. 342 (2006) 1130-1136
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.342
, pp. 1130-1136
-
-
Yan, Q.1
Bykhovskaya, Y.2
Li, R.3
Mengesha, E.4
Shohat, M.5
Estivill, X.6
Fischel-Ghodsian, N.7
Guan, M.X.8
-
19
-
-
33746559647
-
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
-
Guan M.X., Yan Q., Li X., Bykhovskaya Y., Gallo-Teran J., Hajek P., Umeda N., Zhao H., Garrido G., Mengesha E., Suzuki T., del Castillo I., Peters J.L., Li R., Qian Y., Wang X., Ballana E., Shohat M., Lu J., Estivill X., Watanabe K., and Fischel-Ghodsian N. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am. J. Hum. Genet. 79 (2006) 291-302
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 291-302
-
-
Guan, M.X.1
Yan, Q.2
Li, X.3
Bykhovskaya, Y.4
Gallo-Teran, J.5
Hajek, P.6
Umeda, N.7
Zhao, H.8
Garrido, G.9
Mengesha, E.10
Suzuki, T.11
del Castillo, I.12
Peters, J.L.13
Li, R.14
Qian, Y.15
Wang, X.16
Ballana, E.17
Shohat, M.18
Lu, J.19
Estivill, X.20
Watanabe, K.21
Fischel-Ghodsian, N.22
more..
-
20
-
-
0026519547
-
Sensorineural deafness inherited as a tissue specific mitochondrial disorder
-
Jaber L., Shohat M., Bu X., Fischel-Ghodsian N., Yang H.Y., Wang S.J., and Rotter J.I. Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J. Med. Genet. 29 (1992) 86-90
-
(1992)
J. Med. Genet.
, vol.29
, pp. 86-90
-
-
Jaber, L.1
Shohat, M.2
Bu, X.3
Fischel-Ghodsian, N.4
Yang, H.Y.5
Wang, S.J.6
Rotter, J.I.7
-
21
-
-
0344319833
-
Identifying biological themes within lists of genes with EASE
-
Hosack D.A., Dennis Jr. G., Sherman B.T., Lane H.C., and Lempicki R.A. Identifying biological themes within lists of genes with EASE. Genome Biol. 4 (2003) R70
-
(2003)
Genome Biol.
, vol.4
-
-
Hosack, D.A.1
Dennis Jr., G.2
Sherman, B.T.3
Lane, H.C.4
Lempicki, R.A.5
-
22
-
-
8344246114
-
Differential gene expression of blood-derived cell lines in familial combined hyperlipidemia
-
Morello F., de Bruin T.W., Rotter J.I., Pratt R.E., van der Kallen C.J., Hladik G.A., Dzau V.J., Liew C.C., and Chen Y.D. Differential gene expression of blood-derived cell lines in familial combined hyperlipidemia. Arterioscler. Thromb. Vasc. Biol. 24 (2004) 2149-2154
-
(2004)
Arterioscler. Thromb. Vasc. Biol.
, vol.24
, pp. 2149-2154
-
-
Morello, F.1
de Bruin, T.W.2
Rotter, J.I.3
Pratt, R.E.4
van der Kallen, C.J.5
Hladik, G.A.6
Dzau, V.J.7
Liew, C.C.8
Chen, Y.D.9
-
23
-
-
33745905328
-
Identification of genes modulated in rheumatoid arthritis using complementary DNA microarray analysis of lymphoblastoid B cell lines from disease-discordant monozygotic twins
-
Haas C.S., Creighton C.J., Pi X., Maine I., Koch A.E., Haines G.K., Ling S., Chinnaiyan A.M., and Holoshitz J. Identification of genes modulated in rheumatoid arthritis using complementary DNA microarray analysis of lymphoblastoid B cell lines from disease-discordant monozygotic twins. Arthritis Rheum. 54 (2006) 2047-2060
-
(2006)
Arthritis Rheum.
, vol.54
, pp. 2047-2060
-
-
Haas, C.S.1
Creighton, C.J.2
Pi, X.3
Maine, I.4
Koch, A.E.5
Haines, G.K.6
Ling, S.7
Chinnaiyan, A.M.8
Holoshitz, J.9
-
24
-
-
0036783355
-
Gene expression phenotype in heterozygous carriers of ataxia telangiectasia
-
Watts J.A., Morley M., Burdick J.T., Fiori J.L., Ewens W.J., Spielman R.S., and Cheung V.G. Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am. J. Hum. Genet. 71 (2002) 791-800
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 791-800
-
-
Watts, J.A.1
Morley, M.2
Burdick, J.T.3
Fiori, J.L.4
Ewens, W.J.5
Spielman, R.S.6
Cheung, V.G.7
-
25
-
-
0038005018
-
DAVID: database for annotation, visualization, and integrated discovery
-
Dennis Jr. G., Sherman B.T., Hosack D.A., Yang J., Gao W., Lane H.C., and Lempicki R.A. DAVID: database for annotation, visualization, and integrated discovery. Genome Biol. 4 (2003) P3
-
(2003)
Genome Biol.
, vol.4
-
-
Dennis Jr., G.1
Sherman, B.T.2
Hosack, D.A.3
Yang, J.4
Gao, W.5
Lane, H.C.6
Lempicki, R.A.7
-
26
-
-
0034069495
-
The gene ontology consortium, gene ontology: tool for the unification of biology
-
Ashburner M., Ball C.A., Blake J.A., Botstein D., Butler H., Cherry J.M., Davis A.P., Dolinski K., Dwight S.S., Eppig J.T., Harris M.A., Hill D.P., Issel-Tarver L., Kasarskis A., Lewis S., Matese J.C., Richardson J.E., Ringwald M., Rubin G.M., and Sherlock G. The gene ontology consortium, gene ontology: tool for the unification of biology. Nature Genet. 25 (2000) 25-29
-
(2000)
Nature Genet.
, vol.25
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Davis, A.P.7
Dolinski, K.8
Dwight, S.S.9
Eppig, J.T.10
Harris, M.A.11
Hill, D.P.12
Issel-Tarver, L.13
Kasarskis, A.14
Lewis, S.15
Matese, J.C.16
Richardson, J.E.17
Ringwald, M.18
Rubin, G.M.19
Sherlock, G.20
more..
-
27
-
-
17744400301
-
N-myc enhances the expression of a large set of genes functioning in ribosome biogenesis and protein synthesis
-
Boon K., Caron H.N., van Asperen R., Valentijn L., Hermus M.C., van Sluis P., Roobeek I., Weis I., Voute P.A., Schwab M., and Versteeg R. N-myc enhances the expression of a large set of genes functioning in ribosome biogenesis and protein synthesis. EMBO J. 20 (2001) 1383-1393
-
(2001)
EMBO J.
, vol.20
, pp. 1383-1393
-
-
Boon, K.1
Caron, H.N.2
van Asperen, R.3
Valentijn, L.4
Hermus, M.C.5
van Sluis, P.6
Roobeek, I.7
Weis, I.8
Voute, P.A.9
Schwab, M.10
Versteeg, R.11
-
28
-
-
0025763419
-
Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc
-
Blackwood E.M., and Eisenman R.N. Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc. Science 251 (1991) 1211-1217
-
(1991)
Science
, vol.251
, pp. 1211-1217
-
-
Blackwood, E.M.1
Eisenman, R.N.2
-
29
-
-
30344440795
-
Molecular research technologies in mitochondrial diseases: the microarray approach
-
Crimi M., O'Hearn S.F., Wallace D.C., and Comi G.P. Molecular research technologies in mitochondrial diseases: the microarray approach. IUBMB Life 57 (2005) 811-818
-
(2005)
IUBMB Life
, vol.57
, pp. 811-818
-
-
Crimi, M.1
O'Hearn, S.F.2
Wallace, D.C.3
Comi, G.P.4
-
30
-
-
20944441533
-
Skeletal muscle gene expression profiling in mitochondrial disorders
-
Crimi M., Bordón A., Menozzi G., Riva L., Fortunato F., Galbiati S., Del Bo R., Pozzoli U., Bresolin N., and Comi G.P. Skeletal muscle gene expression profiling in mitochondrial disorders. FASEB J. 19 (2005) 866-868
-
(2005)
FASEB J.
, vol.19
, pp. 866-868
-
-
Crimi, M.1
Bordón, A.2
Menozzi, G.3
Riva, L.4
Fortunato, F.5
Galbiati, S.6
Del Bo, R.7
Pozzoli, U.8
Bresolin, N.9
Comi, G.P.10
-
31
-
-
0037458031
-
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
-
Mootha V.K., Lepage P., Miller K., Bunkenborg J., Reich M., Hjerrild M., Delmonte T., Villeneuve A., Sladek R., Xu F., Mitchell G.A., Morin C., Mann M., Hudson T.J., Robinson B., Rioux J.D., and Lander E.S. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc. Natl. Acad. Sci. USA 100 (2003) 605-610
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 605-610
-
-
Mootha, V.K.1
Lepage, P.2
Miller, K.3
Bunkenborg, J.4
Reich, M.5
Hjerrild, M.6
Delmonte, T.7
Villeneuve, A.8
Sladek, R.9
Xu, F.10
Mitchell, G.A.11
Morin, C.12
Mann, M.13
Hudson, T.J.14
Robinson, B.15
Rioux, J.D.16
Lander, E.S.17
-
32
-
-
2442691791
-
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
-
Bykhovskaya Y., Casas K., Mengesha E., Inbal A., and Fischel-Ghodsian N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am. J. Hum. Genet. 74 (2004) 1303-1308
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 1303-1308
-
-
Bykhovskaya, Y.1
Casas, K.2
Mengesha, E.3
Inbal, A.4
Fischel-Ghodsian, N.5
-
33
-
-
33847209892
-
Pathways and genes differentially expressed in the motor cortex of patients with sporadic amyotrophic lateral sclerosis
-
Lederer C.W., Torrisi A., Pantelidou M., Santama N., and Cavallaro S. Pathways and genes differentially expressed in the motor cortex of patients with sporadic amyotrophic lateral sclerosis. BMC Genomics 8 (2007) 26
-
(2007)
BMC Genomics
, vol.8
, pp. 26
-
-
Lederer, C.W.1
Torrisi, A.2
Pantelidou, M.3
Santama, N.4
Cavallaro, S.5
-
34
-
-
34249008188
-
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)
-
Bykhovskaya Y., Mengesha E., and Fischel-Ghodsian N. Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA). Mol. Genet. Metab. 91 (2007) 148-156
-
(2007)
Mol. Genet. Metab.
, vol.91
, pp. 148-156
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Fischel-Ghodsian, N.3
-
35
-
-
57749187631
-
Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency
-
Barna M., Pusic A., Zollo O., Costa M., Kondrashov N., Rego E., Rao P.H., and Ruggero D. Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency. Nature 456 (2008) 971-975
-
(2008)
Nature
, vol.456
, pp. 971-975
-
-
Barna, M.1
Pusic, A.2
Zollo, O.3
Costa, M.4
Kondrashov, N.5
Rego, E.6
Rao, P.H.7
Ruggero, D.8
-
36
-
-
0029917720
-
Myc oncogenes: the enigmatic family
-
Ryan K.M., and Birnie G.D. Myc oncogenes: the enigmatic family. Biochem. J. 314 (1996) 713-721
-
(1996)
Biochem. J.
, vol.314
, pp. 713-721
-
-
Ryan, K.M.1
Birnie, G.D.2
-
37
-
-
0030016359
-
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
-
Guan M.X., Fischel-Ghodsian N., and Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 5 (1996) 963-971
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 963-971
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
38
-
-
42149087058
-
Mitochondrial deafness alleles confer misreading of the genetic code
-
Hobbie S.N., Bruell C.M., Akshay S., Kalapala S.K., Shcherbakov D., and Bottger E.C. Mitochondrial deafness alleles confer misreading of the genetic code. Proc. Natl. Acad. Sci. USA 105 (2008) 3244-3249
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 3244-3249
-
-
Hobbie, S.N.1
Bruell, C.M.2
Akshay, S.3
Kalapala, S.K.4
Shcherbakov, D.5
Bottger, E.C.6
-
39
-
-
0031962646
-
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness
-
Sevior K.B., Hatamochi A., Stewart I.A., Bykhovskaya Y., Allen-Powell D.R., Fischel-Ghodsian N., and Maw M.A. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am. J. Med. Genet. 75 (1998) 179-185
-
(1998)
Am. J. Med. Genet.
, vol.75
, pp. 179-185
-
-
Sevior, K.B.1
Hatamochi, A.2
Stewart, I.A.3
Bykhovskaya, Y.4
Allen-Powell, D.R.5
Fischel-Ghodsian, N.6
Maw, M.A.7
-
40
-
-
57149125444
-
Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families
-
Wang X., Lu J., Zhu Y., Yang A., Yang L., Li R., Chen B., Qian Y., Tang X., Wang J., Zhang X., and Guan M.X. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet. Genomics 18 (2008) 1059-1070
-
(2008)
Pharmacogenet. Genomics
, vol.18
, pp. 1059-1070
-
-
Wang, X.1
Lu, J.2
Zhu, Y.3
Yang, A.4
Yang, L.5
Li, R.6
Chen, B.7
Qian, Y.8
Tang, X.9
Wang, J.10
Zhang, X.11
Guan, M.X.12
-
41
-
-
33749463802
-
Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
-
Young W.Y., Zhao L., Qian Y., Li R., Chen J., Yuan H., Dai P., Zhai S., Han D., and Guan M.X. Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss. Am. J. Med. Genet. A. 140 (2006) 2188-2197
-
(2006)
Am. J. Med. Genet. A.
, vol.140
, pp. 2188-2197
-
-
Young, W.Y.1
Zhao, L.2
Qian, Y.3
Li, R.4
Chen, J.5
Yuan, H.6
Dai, P.7
Zhai, S.8
Han, D.9
Guan, M.X.10
-
42
-
-
43049108431
-
Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees
-
Chen B., Sun D., Yang L., Zhang C., Yang A., Zhu Y., Zhao J., Chen Y., Guan M., Wang X., Li R., Tang X., Wang J., Tao Z., Lu J., and Guan M.X. Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees. Am. J. Hum. Genet. A. 146 (2008) 1248-1258
-
(2008)
Am. J. Hum. Genet. A.
, vol.146
, pp. 1248-1258
-
-
Chen, B.1
Sun, D.2
Yang, L.3
Zhang, C.4
Yang, A.5
Zhu, Y.6
Zhao, J.7
Chen, Y.8
Guan, M.9
Wang, X.10
Li, R.11
Tang, X.12
Wang, J.13
Tao, Z.14
Lu, J.15
Guan, M.X.16
-
43
-
-
13544261687
-
Genetic factors in aminoglycoside toxicity
-
Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 6 (2005) 27-36
-
(2005)
Pharmacogenomics
, vol.6
, pp. 27-36
-
-
Fischel-Ghodsian, N.1
-
45
-
-
0030827973
-
Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness
-
Hamasaki K., and Rando R.R. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochem. J. 36 (1997) 12323-12328
-
(1997)
Biochem. J.
, vol.36
, pp. 12323-12328
-
-
Hamasaki, K.1
Rando, R.R.2
-
46
-
-
0033858002
-
Biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
-
Guan M.X., Fischel-Ghodsian N., and Attardi G.A. Biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum. Mol. Genet. 9 (2000) 1787-1793
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1787-1793
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.A.3
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