-
2
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988: 331: 717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
3
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber' hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ, Nikoskelainen EK. Mitochondrial DNA mutation associated with Leber' hereditary optic neuropathy. Science 1988: 242: 1427-1430.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
Elsas, L.J.7
Nikoskelainen, E.K.8
-
4
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
-
Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M, Torroni A. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998: 62: 27-35.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 27-35
-
-
Estivill, X.1
Govea, N.2
Barcelo, E.3
Badenas, C.4
Romero, E.5
Moral, L.6
Scozzri, R.7
D'Urbano, L.8
Zeviani, M.9
Torroni, A.10
-
5
-
-
0028328317
-
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
-
Kadowaki T, Kadowaki H, Mori Y, Tobe K, Sakuta R, Suzuki Y, Tanabe Y, Sakura H, Awata T, Goto Y. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 1994: 330: 962-968.
-
(1994)
N Engl J Med
, vol.330
, pp. 962-968
-
-
Kadowaki, T.1
Kadowaki, H.2
Mori, Y.3
Tobe, K.4
Sakuta, R.5
Suzuki, Y.6
Tanabe, Y.7
Sakura, H.8
Awata, T.9
Goto, Y.10
-
6
-
-
0030872101
-
Maternally inherited diabetes and deafness: Prevalence in a hospital diabetic population
-
Newkirk JE, Taylor RW, Howell N, Bindoff LA, Chinnery PF, Alberti KG, Turnbull DM, Walker M. Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population. Diabet Med 1997: 14: 457-460.
-
(1997)
Diabet Med
, vol.14
, pp. 457-460
-
-
Newkirk, J.E.1
Taylor, R.W.2
Howell, N.3
Bindoff, L.A.4
Chinnery, P.F.5
Alberti, K.G.6
Turnbull, D.M.7
Walker, M.8
-
7
-
-
0027226069
-
Mitochondrial ribosomal rna mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993: 4: 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
Oztas, 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
-
8
-
-
0031004773
-
Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
-
Usami S, Abe S, Kasai M, Shinkawa H, Moeller B, Kenyon JB, Kimberling WJ. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997: 107: 483-490.
-
(1997)
Laryngoscope
, vol.107
, pp. 483-490
-
-
Usami, S.1
Abe, S.2
Kasai, M.3
Shinkawa, H.4
Moeller, B.5
Kenyon, J.B.6
Kimberling, W.J.7
-
9
-
-
0032486097
-
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation
-
Bykhovskaya Y, Shohat M, Ehrenman K, Johnson D, Hamon M, Cantor RM, Aouizerat B, Bu X, Rotter JI, Jaber L, Fischel-Ghodsian N. Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. Am J Med Genet 1998: 77: 421-426.
-
(1998)
Am J Med Genet
, vol.77
, pp. 421-426
-
-
Bykhovskaya, Y.1
Shohat, M.2
Ehrenman, K.3
Johnson, D.4
Hamon, M.5
Cantor, R.M.6
Aouizerat, B.7
Bu, X.8
Rotter, J.I.9
Jaber, L.10
Fischel-Ghodsian, N.11
-
10
-
-
0001004644
-
A mitochondrial DNA mutation associated with maternally inherited deafness and Parkinson's disease
-
Shoffner JM, Brown MD, Huoponen K, Stugard C, Koontz D, Kaufman A, Graham J, Juncos J, Watts RL, Wallace DC. A mitochondrial DNA mutation associated with maternally inherited deafness and Parkinson's disease. Neurology 1999: 46 (Suppl): S31.002.
-
(1999)
Neurology
, vol.46
, pp. S31002
-
-
Shoffner, J.M.1
Brown, M.D.2
Huoponen, K.3
Stugard, C.4
Koontz, D.5
Kaufman, A.6
Graham, J.7
Juncos, J.8
Watts, R.L.9
Wallace, D.C.10
-
11
-
-
0033366515
-
Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
-
Santorelli FM, Tanji K, Manta P, Casali C, Krishna S, Hays AP, Mancini DM, DiMauro S, Hirano M. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 1999: 64: 295-300.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 295-300
-
-
Santorelli, F.M.1
Tanji, K.2
Manta, P.3
Casali, C.4
Krishna, S.5
Hays, A.P.6
Mancini, D.M.7
DiMauro, S.8
Hirano, M.9
-
12
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid FM, Vernham GA, Jacobs HT. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994: 3: 243-247.
-
(1994)
Hum Mutat
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
13
-
-
0028847380
-
Mitochondrial mutation associated with nonsyndromic deafness
-
Fischel-Ghodsian N, Prezant TR, Fournier P, Stewart IA, Maw M. Mitochondrial mutation associated with nonsyndromic deafness. Am J Otolaryngol 1995: 16: 403-408.
-
(1995)
Am J Otolaryngol
, vol.16
, pp. 403-408
-
-
Fischel-Ghodsian, N.1
Prezant, T.R.2
Fournier, P.3
Stewart, I.A.4
Maw, M.5
-
14
-
-
0031962646
-
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness
-
Sevior KB, Hatamochi A, Stewart IA, Bykhovskaya Y, Allen-Powell DR, Fischel-Ghodsian N, Maw MA. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 1998: 75: 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
-
15
-
-
0031049863
-
Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation
-
Reid FM, Rovio A, Holt IJ, Jacobs HT. Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation. Hum Mol Genet 1997: 6: 443-449.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 443-449
-
-
Reid, F.M.1
Rovio, A.2
Holt, I.J.3
Jacobs, H.T.4
-
16
-
-
0031682732
-
The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression
-
Guan MX, Enriquez JA, Fischel-Ghodsian N, Puranam RS, Lin CP, Maw MA, Attardi G. The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. Mol Cell Biol 1998: 18: 5868-5879.
-
(1998)
Mol Cell Biol
, vol.18
, pp. 5868-5879
-
-
Guan, M.X.1
Enriquez, J.A.2
Fischel-Ghodsian, N.3
Puranam, R.S.4
Lin, C.P.5
Maw, M.A.6
Attardi, G.7
-
17
-
-
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
-
18
-
-
0032958455
-
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene
-
Verhoeven K, Ensink RJH, Tiranti V, Huygen PLM, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CWRJ, Willems PJ, Van Camp G. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. Eur J Hum Genet 1999: 7: 45-51.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 45-51
-
-
Verhoeven, K.1
Ensink, R.J.H.2
Tiranti, V.3
Huygen, P.L.M.4
Johnson, D.F.5
Schatteman, I.6
Van Laer, L.7
Verstreken, M.8
Van De Heyning, P.9
Fischel-Ghodsian, N.10
Zeviani, M.11
Cremers, C.W.R.J.12
Willems, P.J.13
Van Camp, G.14
-
19
-
-
0031788095
-
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tR-NA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy
-
Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Muller-Hocker J, Jedele KB, Meitinger T, Gerbitz KD. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tR-NA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet 1998: 35: 895-900.
-
(1998)
J Med Genet
, vol.35
, pp. 895-900
-
-
Jaksch, M.1
Hofmann, S.2
Kleinle, S.3
Liechti-Gallati, S.4
Pongratz, D.E.5
Muller-Hocker, J.6
Jedele, K.B.7
Meitinger, T.8
Gerbitz, K.D.9
-
20
-
-
15644370475
-
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene
-
Jaksch M, Klopstock T, Kurlemann G, Dorner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Muller-Hocker J, Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol 1998: 44: 635-640.
-
(1998)
Ann Neurol
, vol.44
, pp. 635-640
-
-
Jaksch, M.1
Klopstock, T.2
Kurlemann, G.3
Dorner, M.4
Hofmann, S.5
Kleinle, S.6
Hegemann, S.7
Weissert, M.8
Muller-Hocker, J.9
Pongratz, D.10
Gerbitz, K.D.11
-
21
-
-
0031784401
-
Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation
-
Schuelke M, Bakker M, Stoltenburg G, Sperner J, von MA. Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation. Ann Neurol 1998: 44: 700-704.
-
(1998)
Ann Neurol
, vol.44
, pp. 700-704
-
-
Schuelke, M.1
Bakker, M.2
Stoltenburg, G.3
Sperner, J.4
Von, M.A.5
-
22
-
-
0032697467
-
Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids
-
Toompuu M, Tiranti V, Zeviani M, Jacobs HT. Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. Hum Mol Genet 1999: 8: 2275-2283.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2275-2283
-
-
Toompuu, M.1
Tiranti, V.2
Zeviani, M.3
Jacobs, H.T.4
-
23
-
-
4243661704
-
Mitochondrial DNA mutations in the tRNASer(UCN) gene causing maternally inherited hearing impairment
-
Hutchin TP, Parker MJ, Young ID, Davis A, Mueller RF. Mitochondrial DNA mutations in the tRNASer(UCN) gene causing maternally inherited hearing impairment. Am J Hum Genet 1999: 65: A275.
-
(1999)
Am J Hum Genet
, vol.65
, pp. A275
-
-
Hutchin, T.P.1
Parker, M.J.2
Young, I.D.3
Davis, A.4
Mueller, R.F.5
-
24
-
-
0033522788
-
Maternally inherited nonsyndromic hearing loss
-
Friedman RA, Bykhovskaya Y, Sue CM, DiMauro S, Bradley R, Fallis-Cunningham R, Paradies N, Pensak ML, Smith RJ, Groden J, Li XC, Fischel-Ghodsian N. Maternally inherited nonsyndromic hearing loss. Am J Med Genet 1999: 84: 369-372.
-
(1999)
Am J Med Genet
, vol.84
, pp. 369-372
-
-
Friedman, R.A.1
Bykhovskaya, Y.2
Sue, C.M.3
Dimauro, S.4
Bradley, R.5
Fallis-Cunningham, R.6
Paradies, N.7
Pensak, M.L.8
Smith, R.J.9
Groden, J.10
Li, X.C.11
Fischel-Ghodsian, N.12
-
25
-
-
0032976423
-
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tR-NA(Ser(UCN)) gene
-
Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tR-NA(Ser(UCN)) gene. Neurology 1999: 52: 1905-1908.
-
(1999)
Neurology
, vol.52
, pp. 1905-1908
-
-
Sue, C.M.1
Tanji, K.2
Hadjigeorgiou, G.3
Andreu, A.L.4
Nishino, I.5
Krishna, S.6
Bruno, C.7
Hirano, M.8
Shanske, S.9
Bonilla, E.10
Fischel-Ghodsian, N.11
DiMauro, S.12
Friedman, R.13
-
26
-
-
0025666322
-
A mutation in the tR-NA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y, Nonaka I, Horai S. A mutation in the tR-NA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990: 348: 651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
27
-
-
0026906885
-
Mutation in mitochondrial tR-NA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de VM, Struyvenberg PA, van de Kamp JJ, Maassen JA. Mutation in mitochondrial tR-NA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992: 1: 368-371.
-
(1992)
Nat Genet
, vol.1
, pp. 368-371
-
-
Van Den Ouweland, J.M.1
Lemkes, H.H.2
Ruitenbeek, W.3
Sandkuijl, L.A.4
De, V.M.5
Struyvenberg, P.A.6
Van De Kamp, J.J.7
Maassen, J.A.8
-
28
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. 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
-
29
-
-
0027865639
-
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene
-
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1993: 1: 80-87.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 80-87
-
-
Zeviani, M.1
Muntoni, F.2
Savarese, N.3
Serra, G.4
Tiranti, V.5
Carrara, F.6
Mariotti, C.7
DiDonato, S.8
-
30
-
-
0032540091
-
Novel mitochondrial DNA mutation in tRNA(Lys) 8296A(G) associated with diabetes
-
Kameoka K, Isotani H, Tanaka K, Azukari K, Fujimura Y, Shiota Y, Sasaki E, Majima M, Furukawa K, Haginomori S, Kitaoka H, Ohsawa N. Novel mitochondrial DNA mutation in tRNA(Lys) (8296A(G) associated with diabetes. Biochem Biophys Res Commun 1998: 245: 523-527.
-
(1998)
Biochem Biophys Res Commun
, vol.245
, pp. 523-527
-
-
Kameoka, K.1
Isotani, H.2
Tanaka, K.3
Azukari, K.4
Fujimura, Y.5
Shiota, Y.6
Sasaki, E.7
Majima, M.8
Furukawa, K.9
Haginomori, S.10
Kitaoka, H.11
Ohsawa, N.12
-
31
-
-
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
-
32
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, 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
-
33
-
-
0026849690
-
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
-
Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1992: 1: 11-15.
-
(1992)
Nat Genet
, vol.1
, pp. 11-15
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Hedaya, E.V.3
Trounce, I.4
Polak, M.A.5
Koontz, D.A.6
Wallace, D.C.7
|