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Results: 1 to 20 of 103

1.

Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected myoclonic epilepsy and ragged red fibers (MERRF).

Yorns WR Jr, Valencia I, Jayaraman A, Sheth S, Legido A, Goldenthal MJ.

J Child Neurol. 2012 Mar;27(3):398-401. doi: 10.1177/0883073811420870. Epub 2011 Nov 22.

PMID:
22114216
[PubMed - indexed for MEDLINE]
2.

Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report.

Sitburana O, Witoonpanich R, Phudhichareonrat S, Lertrit P, Supavilai R.

J Med Assoc Thai. 2001 Jul;84(7):1051-5.

PMID:
11759966
[PubMed - indexed for MEDLINE]
3.

MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).

Hahn A, Schänzer A, Neubauer BA, Gizewski E, Ahting U, Rolinski B.

Neuropediatrics. 2011 Aug;42(4):148-51. doi: 10.1055/s-0031-1283167. Epub 2011 Jul 15.

PMID:
21766266
[PubMed - indexed for MEDLINE]
4.

Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology.

Du W, Li W, Chen G, Cao H, Tang H, Tang X, Jin Q, Sun Z, Zhao H, Zhou W, He S, Lv Y, Zhao J, Zhang X.

Biosens Bioelectron. 2009 Apr 15;24(8):2371-6. doi: 10.1016/j.bios.2008.12.008. Epub 2008 Dec 9.

PMID:
19155171
[PubMed - indexed for MEDLINE]
6.

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.

Fang W, Huang CC, Chu NS, Lee CC, Chen RS, Pang CY, Shih KD, Wei YH.

Muscle Nerve. 1994 Jan;17(1):52-7.

PMID:
8264702
[PubMed - indexed for MEDLINE]
7.

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW.

Arch Neurol. 2009 Mar;66(3):399-402. doi: 10.1001/archneurol.2008.576.

PMID:
19273760
[PubMed - indexed for MEDLINE]
8.

Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome.

Remes AM, Kärppä M, Moilanen JS, Rusanen H, Hassinen IE, Majamaa K, Uimonen S, Sorri M, Salmela PI, Karvonen SL, Karvonen SL.

J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1158-9. No abstract available.

PMID:
12876264
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Fibrous dysplasia in a child with mitochondrial A8344G mutation.

Chen ST, Fan PC, Hwu WL, Wu MH.

J Child Neurol. 2008 Dec;23(12):1447-50. doi: 10.1177/0883073808318541. Epub 2008 Sep 4.

PMID:
18772492
[PubMed - indexed for MEDLINE]
10.

Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease.

Suomalainen A, Kollmann P, Octave JN, Söderlund H, Syvänen AC.

Eur J Hum Genet. 1993;1(1):88-95.

PMID:
8069655
[PubMed - indexed for MEDLINE]
11.

Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.

Orcesi S, Gorni K, Termine C, Uggetti C, Veggiotti P, Carrara F, Zeviani M, Berardinelli A, Lanzi G.

J Child Neurol. 2006 Jan;21(1):79-82.

PMID:
16551460
[PubMed - indexed for MEDLINE]
12.

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J.

Muscle Nerve. 1996 Feb;19(2):187-90.

PMID:
8559168
[PubMed - indexed for MEDLINE]
13.

Genetic analysis of one family with myoclonic epilepsy and ragged-red fibers (MERRF)

Campos Y, Esteban J, Cabello A, Arenas J.

Muscle Nerve. 1994 Oct;17(10):1229-31. No abstract available.

PMID:
7935536
[PubMed - indexed for MEDLINE]
14.

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

Campos Y, Garcia-Silva T, Barrionuevo CR, Cabello A, Muley R, Arenas J.

Pediatr Neurol. 1995 Jul;13(1):69-72.

PMID:
7575854
[PubMed - indexed for MEDLINE]
15.

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE.

Brain. 1993 Jun;116 ( Pt 3):617-32.

PMID:
8513395
[PubMed - indexed for MEDLINE]
16.

The 3243 MELAS mutation in a pedigree with MERRF.

Folgerø T, Torbergsen T, Oian P.

Eur Neurol. 1995;35(3):168-71.

PMID:
7628497
[PubMed - indexed for MEDLINE]
17.

Patient homozygous for a recessive POLG mutation presents with features of MERRF.

Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C.

Neurology. 2003 Dec 23;61(12):1811-3.

PMID:
14694057
[PubMed - indexed for MEDLINE]
18.

MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.

Mancuso M, Petrozzi L, Filosto M, Nesti C, Rocchi A, Choub A, Pistolesi S, Massetani R, Fontanini G, Siciliano G.

Biochem Biophys Res Commun. 2007 Mar 23;354(4):1058-60. Epub 2007 Jan 26.

PMID:
17275787
[PubMed - indexed for MEDLINE]
19.

A diagnostic tattoo.

Whittaker RG, Turnbull DM.

Clin Genet. 2009 Jan;75(1):37-8. doi: 10.1111/j.1399-0004.2008.01103.x.

PMID:
19128396
[PubMed - indexed for MEDLINE]
20.

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S.

Arch Neurol. 2005 Mar;62(3):473-6.

PMID:
15767514
[PubMed - indexed for MEDLINE]

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