138 related articles for article (PubMed ID: 19705478)
61. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Hellebrekers DMEI; Blakely EL; Hendrickx ATM; Hardy SA; Hopton S; Falkous G; de Coo IFM; Smeets HJM; van der Beek NME; Taylor RW
Neuromuscul Disord; 2019 Sep; 29(9):693-697. PubMed ID: 31488384
[TBL] [Abstract][Full Text] [Related]
62. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
Wanrooij S; Luoma P; van Goethem G; van Broeckhoven C; Suomalainen A; Spelbrink JN
Nucleic Acids Res; 2004; 32(10):3053-64. PubMed ID: 15181170
[TBL] [Abstract][Full Text] [Related]
63. A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples.
De Coo IF; Gussinklo T; Arts PJ; Van Oost BA; Smeets HJ
J Neurol Sci; 1997 Jul; 149(1):37-40. PubMed ID: 9168163
[TBL] [Abstract][Full Text] [Related]
64. Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia.
Holmlund T; Farge G; Pande V; Korhonen J; Nilsson L; Falkenberg M
Biochim Biophys Acta; 2009 Feb; 1792(2):132-9. PubMed ID: 19084593
[TBL] [Abstract][Full Text] [Related]
65. Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism.
Melberg A; Lundberg PO; Henriksson KG; Olsson Y; Stålberg E
Muscle Nerve; 1996 Jun; 19(6):751-7. PubMed ID: 8609926
[TBL] [Abstract][Full Text] [Related]
66. Diagnosis of mitochondrial myopathies.
Milone M; Wong LJ
Mol Genet Metab; 2013; 110(1-2):35-41. PubMed ID: 23911206
[TBL] [Abstract][Full Text] [Related]
67. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Filosto M; Mancuso M; Nishigaki Y; Pancrudo J; Harati Y; Gooch C; Mankodi A; Bayne L; Bonilla E; Shanske S; Hirano M; DiMauro S
Arch Neurol; 2003 Sep; 60(9):1279-84. PubMed ID: 12975295
[TBL] [Abstract][Full Text] [Related]
68. External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.
Hansrote S; Croul S; Selak M; Kalman B; Schwartzman RJ
J Neurol Sci; 2002 May; 197(1-2):63-7. PubMed ID: 11997068
[TBL] [Abstract][Full Text] [Related]
69. Contrasting histochemical features of various mitochondrial syndromes.
Collins S; Byrne E; Dennett X
Acta Neurol Scand; 1995 Apr; 91(4):287-93. PubMed ID: 7625156
[TBL] [Abstract][Full Text] [Related]
70. [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
Mukai M; Sugaya K; Matsubara S; Cai H; Yabe I; Sasaki H; Nakano I
Rinsho Shinkeigaku; 2014; 54(5):417-22. PubMed ID: 24943079
[TBL] [Abstract][Full Text] [Related]
71. A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms.
Kasamo K; Nakamura M; Daimou Y; Sano A
Neurosci Res; 2020 Aug; 157():58-63. PubMed ID: 31348995
[TBL] [Abstract][Full Text] [Related]
72. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Luoma P; Melberg A; Rinne JO; Kaukonen JA; Nupponen NN; Chalmers RM; Oldfors A; Rautakorpi I; Peltonen L; Majamaa K; Somer H; Suomalainen A
Lancet; 2004 Sep 4-10; 364(9437):875-82. PubMed ID: 15351195
[TBL] [Abstract][Full Text] [Related]
73. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
Van Goethem G; Löfgren A; Dermaut B; Ceuterick C; Martin JJ; Van Broeckhoven C
Hum Mutat; 2003 Aug; 22(2):175-6. PubMed ID: 12872260
[No Abstract] [Full Text] [Related]
74. [Deletions of the mitochondrial DNA associated to chronic progressive external ophthalmoplegia with ragged-red fibers in 2 Brazilian patients].
Carod-Artal FJ; López-Gallardo E; Solano A; Dahmani Y; Ruiz-Pesini E; Montoya J
Med Clin (Barc); 2006 Apr; 126(12):457-60. PubMed ID: 16620733
[TBL] [Abstract][Full Text] [Related]
75. Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
Park MH; Woo HM; Hong YB; Park JH; Yoon BR; Park JM; Yoo JH; Koo H; Chae JH; Chung KW; Choi BO; Koo SK
Neurogenetics; 2014 Aug; 15(3):171-82. PubMed ID: 24816431
[TBL] [Abstract][Full Text] [Related]
76. Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy.
Nakagawa M; Kaminishi Y; Isashiki Y; Yamada H; Higuchi I; Uchida Y; Osame M
Acta Neurol Scand; 1995 Jul; 92(1):102-8. PubMed ID: 7572054
[TBL] [Abstract][Full Text] [Related]
77. Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy.
Jeppesen TD; Schwartz M; Olsen DB; Vissing J
Ann Neurol; 2003 Jul; 54(1):86-92. PubMed ID: 12838523
[TBL] [Abstract][Full Text] [Related]
78. Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.
Cardaioli E; Da Pozzo P; Malfatti E; Gallus GN; Rubegni A; Malandrini A; Gaudiano C; Guidi L; Serni G; Berti G; Dotti MT; Federico A
J Neurol Sci; 2008 Sep; 272(1-2):106-9. PubMed ID: 18603265
[TBL] [Abstract][Full Text] [Related]
79. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.
Silvestri G; Servidei S; Rana M; Ricci E; Spinazzola A; Paris E; Tonali P
Biochem Biophys Res Commun; 1996 Mar; 220(3):623-7. PubMed ID: 8607814
[TBL] [Abstract][Full Text] [Related]
80. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.
Carrozzo R; Hirano M; Fromenty B; Casali C; Santorelli FM; Bonilla E; DiMauro S; Schon EA; Miranda AF
Neurology; 1998 Jan; 50(1):99-106. PubMed ID: 9443465
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
