-
5
-
-
0025834561
-
A clinical and genetic study of familial Parkinson's disease
-
Maraganore DM, Harding AE, Marsden CD (1991) A clinical and genetic study of familial Parkinson's disease. Mov Disord 6:205-211
-
(1991)
Mov Disord
, vol.6
, pp. 205-211
-
-
Maraganore, D.M.1
Harding, A.E.2
Marsden, C.D.3
-
6
-
-
0028331444
-
A clinical genetic study of Parkinson's disease: Evidence for dominant transmission
-
Lazzarini AM, Myers RH, Zimmerman TR Jr, Mark MH, Golbe LI, Sage JI, Johnson WG, Duvoisin RC (1994) A clinical genetic study of Parkinson's disease: evidence for dominant transmission. Neurology 44:499-506
-
(1994)
Neurology
, vol.44
, pp. 499-506
-
-
Lazzarini, A.M.1
Myers, R.H.2
Zimmerman Jr., T.R.3
Mark, M.H.4
Golbe, L.I.5
Sage, J.I.6
Johnson, W.G.7
Duvoisin, R.C.8
-
7
-
-
0028060492
-
Increased risk of Parkinson's disease in parents and siblings of patients
-
Payami H, Larsen K, Bernard S, Nutt J (1994) Increased risk of Parkinson's disease in parents and siblings of patients. Ann Neurol 36:659-661
-
(1994)
Ann Neurol
, vol.36
, pp. 659-661
-
-
Payami, H.1
Larsen, K.2
Bernard, S.3
Nutt, J.4
-
8
-
-
0029559666
-
Familial Parkinson's disease: A clinical genetic analysis
-
Bonifati V, Fabrizio E, Vanacore N, De Mari M, Meco G (1995) Familial Parkinson's disease: a clinical genetic analysis. Can J Neurol Sci 22:272-279
-
(1995)
Can J Neurol Sci
, vol.22
, pp. 272-279
-
-
Bonifati, V.1
Fabrizio, E.2
Vanacore, N.3
De Mari, M.4
Meco, G.5
-
9
-
-
0030031344
-
Environmental and genetic risk factors in Parkinson's disease: A case-control study in southern Italy
-
DeMichele G, Filla A, Volpe G, De Marco V, Gogliettino A, Ambrosio G, Marconi R, Castellano AE, Campanella G (1996) Environmental and genetic risk factors in Parkinson's disease: a case-control study in southern Italy. Mov Disord 11:17-23
-
(1996)
Mov Disord
, vol.11
, pp. 17-23
-
-
DeMichele, G.1
Filla, A.2
Volpe, G.3
De Marco, V.4
Gogliettino, A.5
Ambrosio, G.6
Marconi, R.7
Castellano, A.E.8
Campanella, G.9
-
10
-
-
0031471890
-
Genetic aspects of parkinsonism
-
Wood N (1997) Genetic aspects of parkinsonism. Baillieres Clin Neurol 6:37-53
-
(1997)
Baillieres Clin Neurol
, vol.6
, pp. 37-53
-
-
Wood, N.1
-
12
-
-
0025244959
-
The genetics of Parkinson's disease: A reconsideration
-
Golbe LI (1990) The genetics of Parkinson's disease: a reconsideration. Neurology 40[Suppl]:7-14
-
(1990)
Neurology
, vol.40
, Issue.SUPPL.
, pp. 7-14
-
-
Golbe, L.I.1
-
13
-
-
0028127866
-
Autosomal dominant Lewy body parkinsonism in a four-generation family
-
Waters CH, Miller CA (1994) Autosomal dominant Lewy body parkinsonism in a four-generation family. Ann Neurol 35:59-64
-
(1994)
Ann Neurol
, vol.35
, pp. 59-64
-
-
Waters, C.H.1
Miller, C.A.2
-
14
-
-
0028124654
-
Genetic linkage studies in autosomal dominant parkinsonism: Evaluation of seven candidate genes
-
Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO (1994) Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol 36:387-396
-
(1994)
Ann Neurol
, vol.36
, pp. 387-396
-
-
Gasser, T.1
Wszolek, Z.K.2
Trofatter, J.3
Ozelius, L.4
Uitti, R.J.5
Lee, C.S.6
Gusella, J.7
Pfeiffer, R.F.8
Calne, D.B.9
Breakefield, X.O.10
-
15
-
-
10544234193
-
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23
-
Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, Duvoisin RC (1996) Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 274:1197-1199
-
(1996)
Science
, vol.274
, pp. 1197-1199
-
-
Polymeropoulos, M.H.1
Higgins, J.J.2
Golbe, L.I.3
Johnson, W.G.4
Ide, S.E.5
Di Iorio, G.6
Sanges, G.7
Stenroos, E.S.8
Pho, L.T.9
Schaffer, A.A.10
Lazzarini, A.M.11
Nussbaum, R.L.12
Duvoisin, R.C.13
-
16
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276:2045-2047
-
(1997)
Science
, vol.276
, pp. 2045-2047
-
-
Polymeropoulos, M.H.1
Lavedan, C.2
Leroy, E.3
Ide, S.E.4
Dehejia, A.5
Dutra, A.6
Pike, B.7
Root, H.8
Rubenstein, J.9
Boyer, R.10
Stenroos, E.S.11
Chandrasekharappa, S.12
Athanassiadou, A.13
Papapetropoulos, T.14
Johnson, W.G.15
Lazzarini, A.M.16
Duvoisin, R.C.17
Di Iorio, G.18
Golbe, L.I.19
Nussbaum, R.L.20
more..
-
17
-
-
0031951197
-
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
-
Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD (1998) A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 18:262-265
-
(1998)
Nat Genet
, vol.18
, pp. 262-265
-
-
Gasser, T.1
Müller-Myhsok, B.2
Wszolek, Z.K.3
Oehlmann, R.4
Calne, D.B.5
Bonifati, V.6
Bereznai, B.7
Fabrizio, E.8
Vieregge, P.9
Horstmann, R.D.10
-
18
-
-
0031990490
-
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
-
Krüger R, Kuhn W, Müller T, Woitalla D, Graeber MB, Kösel S, Przuntek H, Epplen JT, Schols L, Riess O (1998) Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 18:106-108
-
(1998)
Nat Genet
, vol.18
, pp. 106-108
-
-
Krüger, R.1
Kuhn, W.2
Müller, T.3
Woitalla, D.4
Graeber, M.B.5
Kösel, S.6
Przuntek, H.7
Epplen, J.T.8
Schols, L.9
Riess, O.10
-
19
-
-
16944362288
-
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27
-
Matsumine H, Saito M, Shimoda-Matsubayashi S, Tanaka H, Ishikawa A, Nakagawa Hattori Y, Yokochi M, Kobayashi T, Igarashi S, Takano H, Sanpei K, Koike R, Mori H, Kondo T, Mizutani Y, Schaffer AA, Yamamura Y, Nakamura S, Kuzuhara S, Tsuji S, Mizuno Y (1997) Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 60:588-596
-
(1997)
Am J Hum Genet
, vol.60
, pp. 588-596
-
-
Matsumine, H.1
Saito, M.2
Shimoda-Matsubayashi, S.3
Tanaka, H.4
Ishikawa, A.5
Nakagawa Hattori, Y.6
Yokochi, M.7
Kobayashi, T.8
Igarashi, S.9
Takano, H.10
Sanpei, K.11
Koike, R.12
Mori, H.13
Kondo, T.14
Mizutani, Y.15
Schaffer, A.A.16
Yamamura, Y.17
Nakamura, S.18
Kuzuhara, S.19
Tsuji, S.20
Mizuno, Y.21
more..
-
20
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-608
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
Matsumine, H.4
Yamamura, Y.5
Minoshima, S.6
Yokochi, M.7
Mizuno, Y.8
Shimizu, N.9
-
21
-
-
6844258835
-
Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients
-
Leeuwen FW van, Kleijn DPV de, Hurk HH van den, Neubauer A, Sonnemans MAF, Sluijs JA, Koycu S, Ramdjielal RDJ, Salehi A, Martens GJM, Grosveld FG, Burbach JPH, Hol EM (1998) Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients. Science 279:242-247
-
(1998)
Science
, vol.279
, pp. 242-247
-
-
Van Leeuwen, F.W.1
De Kleijn, D.P.V.2
Van Den Hurk, H.H.3
Neubauer, A.4
Sonnemans, M.A.F.5
Sluijs, J.A.6
Koycu, S.7
Ramdjielal, R.D.J.8
Salehi, A.9
Martens, G.J.M.10
Grosveld, F.G.11
Burbach, J.P.H.12
Hol, E.M.13
-
22
-
-
0024390719
-
Mitochondrial complex I deficiency in Parkinson's disease
-
Schapira AH, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD (1989) Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1:1269
-
(1989)
Lancet
, vol.1
, pp. 1269
-
-
Schapira, A.H.1
Cooper, J.M.2
Dexter, D.3
Jenner, P.4
Clark, J.B.5
Marsden, C.D.6
-
23
-
-
0025254401
-
Mitochondrial complex I deficiency in Parkinson's disease
-
Schapira AH, Cooper JM, Dexter D, Clark JB, Jenner P, Marsden CD (1990) Mitochondrial complex I deficiency in Parkinson's disease. J Neurochem 54:823-827
-
(1990)
J Neurochem
, vol.54
, pp. 823-827
-
-
Schapira, A.H.1
Cooper, J.M.2
Dexter, D.3
Clark, J.B.4
Jenner, P.5
Marsden, C.D.6
-
24
-
-
0024330311
-
Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease
-
Mizuno Y, Ohta S, Tanaka M, Takamiya S, Suzuki K, Sato T, Oya H, Ozawa T, Kagawa Y (1989) Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease. Biochem Biophys Res Commun 163:1450-1455
-
(1989)
Biochem Biophys Res Commun
, vol.163
, pp. 1450-1455
-
-
Mizuno, Y.1
Ohta, S.2
Tanaka, M.3
Takamiya, S.4
Suzuki, K.5
Sato, T.6
Oya, H.7
Ozawa, T.8
Kagawa, Y.9
-
25
-
-
0028316759
-
Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease
-
Janetzky B, Hauck S, Youdim MB, Riederer P, Jellinger K, Pantucek F, Zochling R, Boissl KW, Reichmann H (1994) Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease. Neurosci Lett 169:126-128
-
(1994)
Neurosci Lett
, vol.169
, pp. 126-128
-
-
Janetzky, B.1
Hauck, S.2
Youdim, M.B.3
Riederer, P.4
Jellinger, K.5
Pantucek, F.6
Zochling, R.7
Boissl, K.W.8
Reichmann, H.9
-
26
-
-
0032008669
-
Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease
-
Kösel S, Grasbon-Frodl EM, Mautsch U, Egensperger R, Eitzen U von, Frishman D, Hofmann S, Gerbitz KD, Mehraein P, Graeber MB (1998) Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease. Neurogenetics 1:197-204
-
(1998)
Neurogenetics
, vol.1
, pp. 197-204
-
-
Kösel, S.1
Grasbon-Frodl, E.M.2
Mautsch, U.3
Egensperger, R.4
Von Eitzen, U.5
Frishman, D.6
Hofmann, S.7
Gerbitz, K.D.8
Mehraein, P.9
Graeber, M.B.10
-
27
-
-
0031859395
-
Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease
-
Gu M, Cooper JM, Taanman JW, Schapira AHV (1998) Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann Neurol 44:177-186
-
(1998)
Ann Neurol
, vol.44
, pp. 177-186
-
-
Gu, M.1
Cooper, J.M.2
Taanman, J.W.3
Schapira, A.H.V.4
-
28
-
-
0027200741
-
Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
-
Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, et al. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17:171-184
-
(1993)
Genomics
, vol.17
, pp. 171-184
-
-
Shoffner, J.M.1
Brown, M.D.2
Torroni, 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
-
29
-
-
0029091194
-
A mitochondrial DNA clone is associated with increased risk for Alzheimer disease
-
Hutchin T, Cortopassi G (1995) A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci U S A 92:6892-6895
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 6892-6895
-
-
Hutchin, T.1
Cortopassi, G.2
-
30
-
-
0030811838
-
Association of the mitochondrial tRNA(A4336G) mutation with Alzheimer's and Parkinson's diseases
-
Egensperger R, Kösel S, Schnopp NM, Mehraein P, Graeber MB (1997) Association of the mitochondrial tRNA(A4336G) mutation with Alzheimer's and Parkinson's diseases. Neuropathol Appl Neurobiol 23:315-321
-
(1997)
Neuropathol Appl Neurobiol
, vol.23
, pp. 315-321
-
-
Egensperger, R.1
Kösel, S.2
Schnopp, N.M.3
Mehraein, P.4
Graeber, M.B.5
-
32
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55:181-184
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
33
-
-
0028358132
-
Use of neuropathological tissue for molecular genetic studies: Parameters affecting DNA extraction and polymerase chain reaction
-
Berl
-
Kösel S, Graeber MB (1994) Use of neuropathological tissue for molecular genetic studies: parameters affecting DNA extraction and polymerase chain reaction. Acta Neuropathol (Berl) 88:19-25
-
(1994)
Acta Neuropathol
, vol.88
, pp. 19-25
-
-
Kösel, S.1
Graeber, M.B.2
-
34
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, Bruijn MH de, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 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.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
Schreier, P.H.11
Smith, A.J.12
Staden, R.13
Young, I.G.14
-
35
-
-
0031449003
-
Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes
-
Hirano M, Shtilbans A, Mayeux R, Davidson MM, DiMauro S, Knowles JA, Schon EA (1997) Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc Natl Acad Sci U S A 94:14894-14899
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 14894-14899
-
-
Hirano, M.1
Shtilbans, A.2
Mayeux, R.3
Davidson, M.M.4
DiMauro, S.5
Knowles, J.A.6
Schon, E.A.7
-
36
-
-
0031464288
-
Ancient mtDNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations
-
Wallace DC, Stugard C, Murdoch D, Schurr T, Brown MD (1997) Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. Proc Natl Acad Sci U S A 94:14900-14905
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 14900-14905
-
-
Wallace, D.C.1
Stugard, C.2
Murdoch, D.3
Schurr, T.4
Brown, M.D.5
-
37
-
-
0031804156
-
Compilation of tRNA sequences and sequences of tRNA genes
-
Sprinzl M, Horn C, Brown M, Ioudovitch A, Steinberg S (1998) Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acids Res 26:148-153
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 148-153
-
-
Sprinzl, M.1
Horn, C.2
Brown, M.3
Ioudovitch, A.4
Steinberg, S.5
-
38
-
-
0030027214
-
Purification and characterization of mitochondrial ribonuclease P from Aspergillus nidulans
-
Lee YC, Lee BJ, Hwang DS, Kang HS (1996) Purification and characterization of mitochondrial ribonuclease P from Aspergillus nidulans. Eur J Biochem 235:289-296
-
(1996)
Eur J Biochem
, vol.235
, pp. 289-296
-
-
Lee, Y.C.1
Lee, B.J.2
Hwang, D.S.3
Kang, H.S.4
-
39
-
-
0027436686
-
An operational RNA code for amino acids and possible relationship to genetic code
-
Schimmel P, Giege R, Moras D, Yokoyama S (1993) An operational RNA code for amino acids and possible relationship to genetic code. Proc Natl Acad Sci U S A 90:8763-8768
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 8763-8768
-
-
Schimmel, P.1
Giege, R.2
Moras, D.3
Yokoyama, S.4
-
41
-
-
0031952186
-
Initiator-elongator discrimination in vertebrate tRNAs for protein synthesis
-
Drabkin HJ, Estrella M, Rajbhandary UL (1998) Initiator-elongator discrimination in vertebrate tRNAs for protein synthesis. Mol Cell Bioll 18:1459-1466
-
(1998)
Mol Cell Bioll
, vol.18
, pp. 1459-1466
-
-
Drabkin, H.J.1
Estrella, M.2
Rajbhandary, U.L.3
-
42
-
-
0028812785
-
Crystal structure of the ternary complex of Phe-tRNAPhe, EF-Tu, and a GTP analog
-
Nissen P, Kjeldgaard M, Thirup S, Polekhina G, Reshetnikova L, Clark BF, Nyborg J (1995) Crystal structure of the ternary complex of Phe-tRNAPhe, EF-Tu, and a GTP analog. Science 270:1464-1472
-
(1995)
Science
, vol.270
, pp. 1464-1472
-
-
Nissen, P.1
Kjeldgaard, M.2
Thirup, S.3
Polekhina, G.4
Reshetnikova, L.5
Clark, B.F.6
Nyborg, J.7
-
44
-
-
0025854830
-
Mutations in mitochondrial tRNA genes: A frequent cause of neuromuscular diseases
-
Lauber J, Marsac C, Kadenbach B, Seibel P (1991) Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. Nucleic Acids Res 19:1393-1397
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1393-1397
-
-
Lauber, J.1
Marsac, C.2
Kadenbach, B.3
Seibel, P.4
-
45
-
-
0025950638
-
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome
-
Noer AS, Sudoyo H, Lertrit P, Thyagarajan D, Utthanaphol P, Kapsa R, Byrne E, Marzuki S (1991) A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. Am J Hum Genet 49:715-722
-
(1991)
Am J Hum Genet
, vol.49
, pp. 715-722
-
-
Noer, A.S.1
Sudoyo, H.2
Lertrit, P.3
Thyagarajan, D.4
Utthanaphol, P.5
Kapsa, R.6
Byrne, E.7
Marzuki, S.8
-
46
-
-
0026906885
-
UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 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 Vijlder, M.F.5
Struyvenberg, P.A.6
Van De Kamp, J.J.7
Maassen, J.A.8
-
47
-
-
0027145131
-
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA (Leu(UUR)) gene an etiologic hot spot?
-
Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA (Leu(UUR)) gene an etiologic hot spot? J Clin Invest 92:2906-2915
-
(1993)
J Clin Invest
, vol.92
, pp. 2906-2915
-
-
Moraes, C.T.1
Ciacci, F.2
Bonilla, E.3
Jansen, C.4
Hirano, M.5
Rao, N.6
Lovelace, R.E.7
Rowland, L.P.8
Schon, E.A.9
DiMauro, S.10
-
48
-
-
0028218473
-
Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy
-
Houshmand M, Larsson NG, Holme E, Oldfors A, Tulinius MH, Andersen O (1994) Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1226:49-55
-
(1994)
Biochim Biophys Acta
, vol.1226
, pp. 49-55
-
-
Houshmand, M.1
Larsson, N.G.2
Holme, E.3
Oldfors, A.4
Tulinius, M.H.5
Andersen, O.6
-
49
-
-
0028304922
-
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
-
Jackson MJ, Bindoff LA, Weber K, Wilson JN, Ince P, Alberti KG, Turnbull DM (1994) Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes Care 17:728-733
-
(1994)
Diabetes Care
, vol.17
, pp. 728-733
-
-
Jackson, M.J.1
Bindoff, L.A.2
Weber, K.3
Wilson, J.N.4
Ince, P.5
Alberti, K.G.6
Turnbull, D.M.7
-
50
-
-
0028070162
-
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene
-
Merante F, Tein I, Benson L, Robinson BH (1994) Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. Am J Hum Genet 55:437-446
-
(1994)
Am J Hum Genet
, vol.55
, pp. 437-446
-
-
Merante, F.1
Tein, I.2
Benson, L.3
Robinson, B.H.4
-
51
-
-
0030449566
-
Mitochondrial DNA polymorphism in substantia nigra
-
Kapsa RM, Jean Francois MJ, Lertrit P, Weng S, Siregar N, Ojaimi J, Donnan G, Masters C, Byrne E (1996) Mitochondrial DNA polymorphism in substantia nigra. J Neurol Sci 144:204-211
-
(1996)
J Neurol Sci
, vol.144
, pp. 204-211
-
-
Kapsa, R.M.1
Jean Francois, M.J.2
Lertrit, P.3
Weng, S.4
Siregar, N.5
Ojaimi, J.6
Donnan, G.7
Masters, C.8
Byrne, E.9
-
52
-
-
0025873789
-
Mitochondrial tRNA(Thr) mutation in fatal infantile respiratory enzyme deficiency
-
Yoon KL, Aprille JR, Ernst SG (1991) Mitochondrial tRNA(Thr) mutation in fatal infantile respiratory enzyme deficiency. Biochem Biophys Res Commun 176:1112-1115
-
(1991)
Biochem Biophys Res Commun
, vol.176
, pp. 1112-1115
-
-
Yoon, K.L.1
Aprille, J.R.2
Ernst, S.G.3
-
53
-
-
0026742501
-
Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy
-
Brown MD, Torroni A, Shoffner JM, Wallace DC (1992) Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy. Am J Hum Genet 51:446-447
-
(1992)
Am J Hum Genet
, vol.51
, pp. 446-447
-
-
Brown, M.D.1
Torroni, A.2
Shoffner, J.M.3
Wallace, D.C.4
-
54
-
-
0029759665
-
Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement
-
Mayr-Wohlfart U, Paulus C, Henneberg A, Rodel G (1996) Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement. Acta Neurol Scand 94:167-171
-
(1996)
Acta Neurol Scand
, vol.94
, pp. 167-171
-
-
Mayr-Wohlfart, U.1
Paulus, C.2
Henneberg, A.3
Rodel, G.4
-
55
-
-
0031584966
-
Mitochondrial tRNA(Gln) and tRNA(Thr) gene variants in Parkinson's disease
-
Mayr-Wohlfart U, Rodel G, Henneberg A (1997) Mitochondrial tRNA(Gln) and tRNA(Thr) gene variants in Parkinson's disease. Eur J Med Res 2:111-113
-
(1997)
Eur J Med Res
, vol.2
, pp. 111-113
-
-
Mayr-Wohlfart, U.1
Rodel, G.2
Henneberg, A.3
-
56
-
-
0030468182
-
Classification of European mtDNAs from an analysis of three European populations
-
Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835-1850
-
(1996)
Genetics
, vol.144
, pp. 1835-1850
-
-
Torroni, A.1
Huoponen, K.2
Francalacci, P.3
Petrozzi, M.4
Morelli, L.5
Scozzari, R.6
Obinu, D.7
Savontaus, M.L.8
Wallace, D.C.9
-
57
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60:1107-1121
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
Sellitto, D.4
Zeviani, M.5
Carrara, F.6
Carducci, C.7
Leuzzi, V.8
Carelli, V.9
Barboni, P.10
De Negri, A.11
Scozzari, R.12
-
58
-
-
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, et al (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 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
-
59
-
-
0030813676
-
Population genetics and disease susceptibility: Characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease
-
Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6:1835-1846
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1835-1846
-
-
Hofmann, S.1
Jaksch, M.2
Bezold, R.3
Mertens, S.4
Aholt, S.5
Paprotta, A.6
Gerbitz, K.D.7
-
60
-
-
0028876688
-
The genetic contribution to the phenotype
-
Wolf U (1995) The genetic contribution to the phenotype. Hum Genet 95:127-148
-
(1995)
Hum Genet
, vol.95
, pp. 127-148
-
-
Wolf, U.1
-
61
-
-
0028095263
-
MtDNA and the origin of Caucasians. Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region
-
Torroni A, Lott MT, Cabell MF, Chen Y-S, Lavergne L, et al (1994) MtDNA and the origin of Caucasians. Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 55:760-776
-
(1994)
Am J Hum Genet
, vol.55
, pp. 760-776
-
-
Torroni, A.1
Lott, M.T.2
Cabell, M.F.3
Chen, Y.-S.4
Lavergne, L.5
-
62
-
-
0030034587
-
Mutation accumulation in transfer RNAs: Molecular evidence for Muller's ratchet in mitochondrial genomes
-
Lynch M (1996) Mutation accumulation in transfer RNAs: molecular evidence for Muller's ratchet in mitochondrial genomes. Mol Biol Evol 13:209-220
-
(1996)
Mol Biol Evol
, vol.13
, pp. 209-220
-
-
Lynch, M.1
-
63
-
-
0028983874
-
Identity elements of tRNA(Thr) towards Saccharomyces cerevisiae threonyl-tRNA synthetase
-
Nameki N (1995) Identity elements of tRNA(Thr) towards Saccharomyces cerevisiae threonyl-tRNA synthetase. Nucleic Acids Res 23:2831-2836
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 2831-2836
-
-
Nameki, N.1
-
64
-
-
0001968230
-
Primary, secondary, and tertiary structures of tRNAs
-
Soil D, Raj Bhandary UL (eds) ASM Press, Washington DC
-
Dirheimer G, Keith G, Dumas P, Westhof E (1995) Primary, secondary, and tertiary structures of tRNAs. In: Soil D, Raj Bhandary UL (eds) tRNA: structure, biosynthesis and function. ASM Press, Washington DC, pp 93-126
-
(1995)
tRNA: Structure, Biosynthesis and Function
, pp. 93-126
-
-
Dirheimer, G.1
Keith, G.2
Dumas, P.3
Westhof, E.4
-
65
-
-
0019444843
-
tRNA punctuation model of RNA processing in human mitochondria
-
Ojala D, Montoya J, Attardi G (1981) tRNA punctuation model of RNA processing in human mitochondria. Nature 290:470-474
-
(1981)
Nature
, vol.290
, pp. 470-474
-
-
Ojala, D.1
Montoya, J.2
Attardi, G.3
-
66
-
-
0027282274
-
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism
-
Bindoff LA, Howell N, Poulton J, McCullough DA, Morten KJ, Lightowlers RN, Turnbull DM, Weber K (1993) Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism. J Biol Chem 268:19559-19564
-
(1993)
J Biol Chem
, vol.268
, pp. 19559-19564
-
-
Bindoff, L.A.1
Howell, N.2
Poulton, J.3
McCullough, D.A.4
Morten, K.J.5
Lightowlers, R.N.6
Turnbull, D.M.7
Weber, K.8
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