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Results: 1 to 20 of 103

1.

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F.

Mol Genet Metab. 2014 Jun 30. pii: S1096-7192(14)00203-0. doi: 10.1016/j.ymgme.2014.06.004. [Epub ahead of print]

PMID:
25037980
[PubMed - as supplied by publisher]
2.

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S.

Am J Med Genet A. 2013 Sep;161A(9):2334-8. doi: 10.1002/ajmg.a.36065. Epub 2013 Aug 5.

PMID:
23918765
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J.

Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001.

PMID:
20598274
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M.

J Med Genet. 2007 Mar;44(3):173-80. Epub 2006 Oct 20.

PMID:
17056637
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J.

Orphanet J Rare Dis. 2013 Dec 17;8:193. doi: 10.1186/1750-1172-8-193.

PMID:
24344687
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M.

BMJ Case Rep. 2009;2009. pii: bcr05.2009.1889. doi: 10.1136/bcr.05.2009.1889. Epub 2009 Jun 9.

PMID:
21686963
[PubMed]
Free PMC Article
7.

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.

Sasarman F, Nishimura T, Thiffault I, Shoubridge EA.

Hum Mutat. 2012 Aug;33(8):1201-6. doi: 10.1002/humu.22098. Epub 2012 May 7.

PMID:
22504945
[PubMed - indexed for MEDLINE]
8.

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.

Zeharia A, Fischel-Ghodsian N, Casas K, Bykhocskaya Y, Tamari H, Lev D, Mimouni M, Lerman-Sagie T.

J Child Neurol. 2005 May;20(5):449-52.

PMID:
15971356
[PubMed - indexed for MEDLINE]
9.

Mitochondrial Disorders Overview.

Chinnery PF.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2000 Jun 08 [updated 2014 Aug 14].

PMID:
20301403
[PubMed]
Books & Documents
10.

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.

Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N.

J Hum Genet. 2014 Apr;59(4):229-32. doi: 10.1038/jhg.2013.143. Epub 2014 Jan 16.

PMID:
24430573
[PubMed - in process]
11.

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.

Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N.

J Biol Chem. 2005 May 20;280(20):19823-8. Epub 2005 Mar 16.

PMID:
15772074
[PubMed - indexed for MEDLINE]
Free Article
12.

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A.

Neurology. 2013 Nov 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23.

PMID:
24153443
[PubMed - indexed for MEDLINE]
13.

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N.

Am J Hum Genet. 2004 Jun;74(6):1303-8. Epub 2004 Apr 22.

PMID:
15108122
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM.

Biochim Biophys Acta. 2014 Jan;1842(1):56-64. doi: 10.1016/j.bbadis.2013.10.008. Epub 2013 Oct 24.

PMID:
24161539
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The expanding clinical spectrum of mitochondrial diseases.

De Vivo DC.

Brain Dev. 1993 Jan-Feb;15(1):1-22. Review.

PMID:
8338207
[PubMed - indexed for MEDLINE]
16.

Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N.

Mol Genet Metab. 2007 Jun;91(2):148-56. Epub 2007 Mar 19.

PMID:
17374500
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome.

Inbal A, Avissar N, Shaklai M, Kuritzky A, Schejter A, Ben-David E, Shanske S, Garty BZ.

Am J Med Genet. 1995 Jan 30;55(3):372-8.

PMID:
7726239
[PubMed - indexed for MEDLINE]
18.

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Dhamija R, Graham JM Jr, Smaoui N, Thorland E, Kirmani S.

Eur J Med Genet. 2014 Mar;57(4):181-4. doi: 10.1016/j.ejmg.2014.02.009. Epub 2014 Feb 27.

PMID:
24583203
[PubMed - in process]
19.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.

Emmanuele V, Sotiriou E, Rios PG, Ganesh J, Ichord R, Foley AR, Akman HO, Dimauro S.

J Child Neurol. 2013 Feb;28(2):236-42. doi: 10.1177/0883073812445787. Epub 2012 May 25.

PMID:
22638077
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.

Kara B, Arıkan M, Maraş H, Abacı N, Cakıris A, Ustek D.

Mol Genet Metab. 2012 Nov;107(3):389-93. doi: 10.1016/j.ymgme.2012.06.013. Epub 2012 Jul 10.

PMID:
22819295
[PubMed - indexed for MEDLINE]

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