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Results: 1 to 20 of 107

Similar articles for PubMed (Select 23334599)

1.

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He L, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2013 Feb;72(2):164-75. doi: 10.1097/NEN.0b013e31828129c5.

PMID:
23334599
2.

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.

Da Pozzo P, Cardaioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M, Federico A.

Eur J Hum Genet. 2009 Aug;17(8):1092-6. doi: 10.1038/ejhg.2009.12. Epub 2009 Feb 18.

3.

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 23;354(4):937-41. Epub 2007 Jan 23.

PMID:
17266923
4.

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

Alston CL, Lowe J, Turnbull DM, Maddison P, Taylor RW.

J Neurol Sci. 2010 Nov 15;298(1-2):140-4. doi: 10.1016/j.jns.2010.08.014.

PMID:
20810132
5.

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

Leshinsky-Silver E, Shuvalov R, Inbar S, Cohen S, Lev D, Lerman-Sagie T.

J Child Neurol. 2011 Apr;26(4):476-81. doi: 10.1177/0883073810384615. Epub 2010 Dec 31.

PMID:
21196529
6.

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S.

J Child Neurol. 2007 Jul;22(7):858-62.

PMID:
17715279
7.

A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

Wong LJ, Yim D, Bai RK, Kwon H, Vacek MM, Zane J, Hoppel CL, Kerr DS.

J Med Genet. 2006 Sep;43(9):e46.

8.

Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM, Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS.

Pediatr Neurol. 2009 Jul;41(1):27-33. doi: 10.1016/j.pediatrneurol.2009.02.010.

PMID:
19520270
9.

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V.

Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15.

PMID:
24424123
10.

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

White KD, Ince PG, Lusher M, Lindsey J, Cookson M, Bashir R, Shaw PJ, Bushby KM.

Neurology. 2000 Jul 12;55(1):89-94.

PMID:
10891911
11.

The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.

Wharton SB, McDermott CJ, Grierson AJ, Wood JD, Gelsthorpe C, Ince PG, Shaw PJ.

J Neuropathol Exp Neurol. 2003 Nov;62(11):1166-77.

PMID:
14656074
12.

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

Muglia M, Citrigno L, D'Errico E, Magariello A, Distaso E, Gasparro AA, Scarafino A, Patitucci A, Conforti FL, Mazzei R, Cortese R, Tortelli R, Simone IL.

J Neurol Sci. 2014 Aug 15;343(1-2):218-20. doi: 10.1016/j.jns.2014.05.063. Epub 2014 Jun 5.

PMID:
24939576
13.

Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.

Lax NZ, Hepplewhite PD, Reeve AK, Nesbitt V, McFarland R, Jaros E, Taylor RW, Turnbull DM.

J Neuropathol Exp Neurol. 2012 Feb;71(2):148-61. doi: 10.1097/NEN.0b013e318244477d.

14.

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

Martín MA, Blázquez A, Gutierrez-Solana LG, Fernández-Moreira D, Briones P, Andreu AL, Garesse R, Campos Y, Arenas J.

Arch Neurol. 2005 Apr;62(4):659-61.

PMID:
15824269
15.

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.

Raman A, Lin X, Suri M, Hewitt M, Constantinescu CS, Phillips MF.

J Neurol Sci. 2007 Sep 15;260(1-2):78-82. Epub 2007 May 15.

PMID:
17507029
16.

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

Rudzinski LA, Fletcher RM, Dickson DW, Crook R, Hutton ML, Adamson J, Graff-Radford NR.

Alzheimer Dis Assoc Disord. 2008 Jul-Sep;22(3):299-307. doi: 10.1097/WAD.0b013e3181732399.

17.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.

Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31.

PMID:
24697911
18.

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C.

J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8.

PMID:
24202787
19.

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN.

Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.

20.

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

Meulemans A, Seneca S, Smet J, De Paepe B, Lissens W, Van Coster R, Debeer A, De Meirleir L, Jaeken J.

Eur J Paediatr Neurol. 2007 Jan;11(1):17-20. Epub 2006 Dec 11.

PMID:
17161635
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