-
1
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38:1339-1346.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
-
2
-
-
0027190874
-
Clinical features associated with the A-to-G transition at nucleotide 8344 of mtDNA ("MERRF" mutation)
-
Silvestri G, Ciafaloni E, Santorelli FM, et al. Clinical features associated with the A-to-G transition at nucleotide 8344 of mtDNA ("MERRF" mutation). Neurology 1993;43:1200-1206.
-
(1993)
Neurology
, vol.43
, pp. 1200-1206
-
-
Silvestri, G.1
Ciafaloni, E.2
Santorelli, F.M.3
-
3
-
-
0026681490
-
MELAS: Clinical features, biochemistry, and molecular genetics
-
Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992; 31:391-398.
-
(1992)
Ann Neurol
, vol.31
, pp. 391-398
-
-
Ciafaloni, E.1
Ricci, E.2
Shanske, S.3
-
4
-
-
0026906885
-
Mutation in mitochondrial tRNA Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
Van den Ouweland JMW, Lemkes HHP, Ruitenbeek W, et al. Mutation in mitochondrial tRNA Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992;1:386-371.
-
(1992)
Nature Genet
, vol.1
, pp. 386-1371
-
-
Van Den Ouweland, J.M.W.1
Lemkes, H.H.P.2
Ruitenbeek, W.3
-
5
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet 1993;4: 289-294.
-
(1993)
Nature Genet
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
-
6
-
-
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. Human Mutat 1994;3:243-247.
-
(1994)
Human Mutat
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
7
-
-
0026712954
-
Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA
-
Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, Di Mauro S, Schon EA. Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA. J Neurol Sci 1992;111:222-226.
-
(1992)
J Neurol Sci
, vol.111
, pp. 222-226
-
-
Suomalainen, A.1
Ciafaloni, E.2
Koga, Y.3
Peltonen, L.4
Di Mauro, S.5
Schon, E.A.6
-
8
-
-
85035189532
-
Teenage-onset non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairese pedigree
-
Matthijs G, Claes S, Longo-Mbenza B, Cassiman JJ. Teenage-onset non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairese pedigree [abstract]. Am J Hum Genet 1994; 55:A231.
-
(1994)
Am J Hum Genet
, vol.55
-
-
Matthijs, G.1
Claes, S.2
Longo-Mbenza, B.3
Cassiman, J.J.4
-
9
-
-
0001004644
-
A mitochondrial DNA mutation associated with maternally inherited deafness and Parkinson's disease
-
Shoffner JM, Brown MD, Huoponen K, et al. A mitochondrial DNA mutation associated with maternally inherited deafness and Parkinson's disease [abstract]. Neurology 1996;46:A331.
-
(1996)
Neurology
, vol.46
-
-
Shoffner, J.M.1
Brown, M.D.2
Huoponen, K.3
-
10
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's 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
-
11
-
-
0019908820
-
Identification of the paromomycin-resistance mutation in the 15S rRNA gene of yeast mitochondria
-
Li M, Tzagaloff A, Underbrink-Lyon K, Martin NC. Identification of the paromomycin-resistance mutation in the 15S rRNA gene of yeast mitochondria. J Biol Them 1982;257:5921-5928.
-
(1982)
J Biol Them
, vol.257
, pp. 5921-5928
-
-
Li, M.1
Tzagaloff, A.2
Underbrink-Lyon, K.3
Martin, N.C.4
-
12
-
-
0027218979
-
A molecular basis for human hypersensitivity to aminoglycoside antibiotics
-
Hutchin T, Haworth I, Higashi K, et al. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 1993;21:4174-4179.
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 4174-4179
-
-
Hutchin, T.1
Haworth, I.2
Higashi, K.3
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