135 related articles for article (PubMed ID: 11782991)
21. A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness.
Bannwarth S; Abbassi M; Valéro R; Fragaki K; Dubois N; Vialettes B; Paquis-Flucklinger V
Diabetes Care; 2011 Dec; 34(12):2591-3. PubMed ID: 21994425
[TBL] [Abstract][Full Text] [Related]
22. Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.
Remes AM; Majamaa K; Herva R; Hassinen IE
Neurology; 1993 May; 43(5):1015-20. PubMed ID: 8492919
[TBL] [Abstract][Full Text] [Related]
23. Novel mitochondrial DNA length variants and genetic instability in a family with diabetes and deafness.
Janssen GM; Neu A; 't Hart LM; van de Sande CM; Antonie Maassen J
Exp Clin Endocrinol Diabetes; 2006 Apr; 114(4):168-74. PubMed ID: 16705548
[TBL] [Abstract][Full Text] [Related]
24. A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness.
Chen FL; Liu Y; Song XY; Hu HY; Xu HB; Zhang XM; Shi JH; Hu J; Shen Y; Lu B; Wang XC; Hu RM
Mutat Res; 2006 Dec; 602(1-2):26-33. PubMed ID: 16949108
[TBL] [Abstract][Full Text] [Related]
25. A patient with diabetes mellitus, cardiomyopathy, and a mitochondrial gene mutation: confirmation of a gene mutation in cardiac muscle.
Kitaoka H; Kameoka K; Suzuki Y; Sasaki E; Majima M; Takada K; Katagiri H; Oka Y; Ohsawa N
Diabetes Res Clin Pract; 1995 Jun; 28(3):207-12. PubMed ID: 8529500
[TBL] [Abstract][Full Text] [Related]
26. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
Thajeb P; Lee HC; Pang CY; Jeng CM; Huang SF; Wei YH
Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan; 63(1):71-6. PubMed ID: 10645055
[TBL] [Abstract][Full Text] [Related]
27. Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.
Hayashi J; Ohta S; Kagawa Y; Takai D; Miyabayashi S; Tada K; Fukushima H; Inui K; Okada S; Goto Y
J Biol Chem; 1994 Jul; 269(29):19060-6. PubMed ID: 7518448
[TBL] [Abstract][Full Text] [Related]
28. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
Silvestri G; Santorelli FM; Shanske S; Whitley CB; Schimmenti LA; Smith SA; DiMauro S
Hum Mutat; 1994; 3(1):37-43. PubMed ID: 7906985
[TBL] [Abstract][Full Text] [Related]
29. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
Vialettes BH; Paquis-Flucklinger V; Pelissier JF; Bendahan D; Narbonne H; Silvestre-Aillaud P; Montfort MF; Righini-Chossegros M; Pouget J; Cozzone PJ; Desnuelle C
Diabetes Care; 1997 Nov; 20(11):1731-7. PubMed ID: 9353617
[TBL] [Abstract][Full Text] [Related]
30. A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions.
Mezghani N; Mnif M; Mkaouar-Rebai E; Kallel N; Charfi N; Abid M; Fakhfakh F
Biochem Biophys Res Commun; 2013 Feb; 431(4):670-4. PubMed ID: 23357420
[TBL] [Abstract][Full Text] [Related]
31. The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
Tabebi M; Safi W; Felhi R; Alila Fersi O; Keskes L; Abid M; Mnif M; Fakhfakh F
Mol Genet Genomic Med; 2020 Jul; 8(7):e1292. PubMed ID: 32394641
[TBL] [Abstract][Full Text] [Related]
32. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy.
Campos Y; Gámez J; García A; Andreu AL; Rubio JC; Martín MA; del Hoyo P; Navarro C; Cervera C; Garesse R; Arenas J
Neuromuscul Disord; 2001 Jul; 11(5):477-80. PubMed ID: 11404120
[TBL] [Abstract][Full Text] [Related]
33. Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
Götz A; Isohanni P; Liljeström B; Rummukainen J; Nikolajev K; Herrgård E; Marjavaara S; Suomalainen A
Pediatr Res; 2012 Jul; 72(1):90-4. PubMed ID: 22453297
[TBL] [Abstract][Full Text] [Related]
34. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).
Zeviani M; Gellera C; Antozzi C; Rimoldi M; Morandi L; Villani F; Tiranti V; DiDonato S
Lancet; 1991 Jul; 338(8760):143-7. PubMed ID: 1677065
[TBL] [Abstract][Full Text] [Related]
35. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.
Pereira C; Nogueira C; Barbot C; Tessa A; Soares C; Fattori F; Guimarães A; Santorelli FM; Vilarinho L
Biochem Biophys Res Commun; 2007 Mar; 354(4):937-41. PubMed ID: 17266923
[TBL] [Abstract][Full Text] [Related]
36. Mitochondrial 3243 BP mutation: a case report.
Rigoli L; Caruso RA; Zuccarello D; Rigoli M; Barberi I
Diabetes Nutr Metab; 2001 Dec; 14(6):343-8. PubMed ID: 11853367
[TBL] [Abstract][Full Text] [Related]
37. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.
Tiranti V; Corona P; Greco M; Taanman JW; Carrara F; Lamantea E; Nijtmans L; Uziel G; Zeviani M
Hum Mol Genet; 2000 Nov; 9(18):2733-42. PubMed ID: 11063732
[TBL] [Abstract][Full Text] [Related]
38. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
Fu K; Hartlen R; Johns T; Genge A; Karpati G; Shoubridge EA
Hum Mol Genet; 1996 Nov; 5(11):1835-40. PubMed ID: 8923013
[TBL] [Abstract][Full Text] [Related]
39. [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].
Stratilová L; Zeman J; Hansíková H; Houstĕk J; Hermanská J; Dudková Z; Konrádová V; Hůlková H; Elleder M
Cas Lek Cesk; 1998 Jul; 137(14):430-3. PubMed ID: 9748738
[TBL] [Abstract][Full Text] [Related]
40. Mitochondrial myopathy associated with a novel mutation in mtDNA.
Pancrudo J; Shanske S; Coku J; Lu J; Mardach R; Akman O; Krishna S; Bonilla E; DiMauro S
Neuromuscul Disord; 2007 Aug; 17(8):651-4. PubMed ID: 17588757
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]