-
1
-
-
79953211019
-
Mitochondrial DNA Deletion Syndromes
-
Pagon RA, Bird TC, Dolan CR, Stephens K., Seattle (WA): University of Washington, Seattle
-
DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. In: Pagon RA, Bird TC, Dolan CR, Stephens K. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.
-
GeneReviews [Internet]
-
-
Dimauro, S.1
Hirano, M.2
-
2
-
-
0029032410
-
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
-
Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 1995;242:304-312.
-
(1995)
J Neurol
, vol.242
, pp. 304-312
-
-
Mariotti, C.1
Savarese, N.2
Suomalainen, A.3
Rimoldi, M.4
Comi, G.5
Prelle, A.6
-
3
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-311.
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
Dimauro, S.5
Didonato, S.6
-
4
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, et al. 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
Kyttälä, A.4
Zeviani, M.5
Comi, G.P.6
-
5
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. 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
-
6
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven 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 Goethem, G.1
Dermaut, B.2
Löfgren, A.3
Martin, J.J.4
van Broeckhoven, C.5
-
7
-
-
33646859687
-
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia
-
Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006;78:1026-1034.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 1026-1034
-
-
Longley, M.J.1
Clark, S.2
Yu Wai Man, C.3
Hudson, G.4
Durham, S.E.5
Taylor, R.W.6
-
8
-
-
68249118218
-
A heterozygous truncating mutation in RRM2B causes autosomal- dominant progressive external ophthalmoplegia with multiple mtDNA deletions
-
Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A. A heterozygous truncating mutation in RRM2B causes autosomal- dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet 2009;85:290-295.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 290-295
-
-
Tyynismaa, H.1
Ylikallio, E.2
Patel, M.3
Molnar, M.J.4
Haller, R.G.5
Suomalainen, A.6
-
9
-
-
85059356027
-
Large scale single deletion of mitochondrial DNA in chronic progressive external ophthalmoplegia
-
Koh KN, Park SY, Hwang H, Chae JH, Choi JE, Kim KJ, et al. Large scale single deletion of mitochondrial DNA in chronic progressive external ophthalmoplegia. J Korean Child Neurol Soc 2004;12:43-49.
-
(2004)
J Korean Child Neurol Soc
, vol.12
, pp. 43-49
-
-
Koh, K.N.1
Park, S.Y.2
Hwang, H.3
Chae, J.H.4
Choi, J.E.5
Kim, K.J.6
-
10
-
-
85059355845
-
Molecular diagnosis for mitochondrial DNA aberrations in chronic progressive external ophthalmoplegia
-
Seong MW, Hwang JM, Kim JY, Ko HS, Park SS. Molecular diagnosis for mitochondrial DNA aberrations in chronic progressive external ophthalmoplegia. J Korean Ophthalmol Soc 2005;46:323-329.
-
(2005)
J Korean Ophthalmol Soc
, vol.46
, pp. 323-329
-
-
Seong, M.W.1
Hwang, J.M.2
Kim, J.Y.3
Ko, H.S.4
Park, S.S.5
-
11
-
-
85059356519
-
Kearns- Sayre syndrome with a large deletion in mitochondrial DNA
-
Kim SH, Hwang JH, Chung KW, Kim HJ, Kim JY, Park KD, et al. Kearns- Sayre syndrome with a large deletion in mitochondrial DNA. J Korean Neurol Assoc 2006;24:260-264.
-
(2006)
J Korean Neurol Assoc
, vol.24
, pp. 260-264
-
-
Kim, S.H.1
Hwang, J.H.2
Chung, K.W.3
Kim, H.J.4
Kim, J.Y.5
Park, K.D.6
-
12
-
-
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
-
13
-
-
0031429058
-
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
-
Kleinle S, Wiesmann U, Superti-Furga A, Krähenbühl S, Boltshauser E, Reichen J, et al. Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. Hum Genet 1997;100:643-650.
-
(1997)
Hum Genet
, vol.100
, pp. 643-650
-
-
Kleinle, S.1
Wiesmann, U.2
Superti-Furga, A.3
Krähenbühl, S.4
Boltshauser, E.5
Reichen, J.6
-
14
-
-
77953446523
-
The Human Gene Mutation Database: 2008 update
-
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, et al. The Human Gene Mutation Database: 2008 update. Genome Med 2009;1:13.
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
Thomas, N.S.6
-
15
-
-
0036225534
-
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions
-
Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y. A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. Ann Neurol 2002;51:645-648.
-
(2002)
Ann Neurol
, vol.51
, pp. 645-648
-
-
Komaki, H.1
Fukazawa, T.2
Houzen, H.3
Yoshida, K.4
Nonaka, I.5
Goto, Y.6
-
16
-
-
0037461342
-
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
-
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, et al. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 2003;60:1354-1356.
-
(2003)
Neurology
, vol.60
, pp. 1354-1356
-
-
Agostino, A.1
Valletta, L.2
Chinnery, P.F.3
Ferrari, G.4
Carrara, F.5
Taylor, R.W.6
-
17
-
-
38849192448
-
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
-
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008;131:338-351.
-
(2008)
Brain
, vol.131
, pp. 338-351
-
-
Amati-Bonneau, P.1
Valentino, M.L.2
Reynier, P.3
Gallardo, M.E.4
Bornstein, B.5
Boissière, A.6
-
18
-
-
0024404078
-
A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed
-
Li K, Warner CK, Hodge JA, Minoshima S, Kudoh J, Fukuyama R, et al. A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. J Biol Chem 1989;264:13998-14004.
-
(1989)
J Biol Chem
, vol.264
, pp. 13998-14004
-
-
Li, K.1
Warner, C.K.2
Hodge, J.A.3
Minoshima, S.4
Kudoh, J.5
Fukuyama, R.6
-
19
-
-
33847349331
-
The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function
-
Farge G, Pham XH, Holmlund T, Khorostov I, Falkenberg M. The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function. Nucleic Acids Res 2007;35:902-911.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 902-911
-
-
Farge, G.1
Pham, X.H.2
Holmlund, T.3
Khorostov, I.4
Falkenberg, M.5
-
20
-
-
1542677230
-
TWINKLE Has 5 ́→3 ́ DNA helicase activity and is specifically stimulated by mitochondrial singlestranded DNA-binding protein
-
Korhonen JA, Gaspari M, Falkenberg M. TWINKLE Has 5 ́→3 ́ DNA helicase activity and is specifically stimulated by mitochondrial singlestranded DNA-binding protein. J Biol Chem 2003;278:48627-48632.
-
(2003)
J Biol Chem
, vol.278
, pp. 48627-48632
-
-
Korhonen, J.A.1
Gaspari, M.2
Falkenberg, M.3
-
22
-
-
66849097994
-
Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLErelated dominant disease
-
Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, et al. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLErelated dominant disease. Am J Med Genet A 2009;149A:861-867.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 861-867
-
-
van Hove, J.L.1
Cunningham, V.2
Rice, C.3
Ringel, S.P.4
Zhang, Q.5
Chou, P.C.6
-
23
-
-
55149119156
-
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia
-
Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, et al. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol 2008;255:1384-1391.
-
(2008)
J Neurol
, vol.255
, pp. 1384-1391
-
-
Virgilio, R.1
Ronchi, D.2
Hadjigeorgiou, G.M.3
Bordoni, A.4
Saladino, F.5
Moggio, M.6
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