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Items: 1 to 20 of 101

1.

Myoclonus in mitochondrial disorders.

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G.

Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7.

PMID:
24510442
2.

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1.

PMID:
23635963
3.

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T.

J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19.

PMID:
26995359
4.

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.

Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS.

Neuromuscul Disord. 2014 Jun;24(6):533-6. doi: 10.1016/j.nmd.2014.03.011. Epub 2014 Apr 1.

5.

Myoclonus epilepsy in mitochondrial disorders.

Lamperti C, Zeviani M.

Epileptic Disord. 2016 Sep 1;18(S2):94-102. Review.

PMID:
27618766
6.

Management of epilepsy in MERRF syndrome.

Finsterer J, Zarrouk-Mahjoub S.

Seizure. 2017 Aug;50:166-170. doi: 10.1016/j.seizure.2017.06.010. Epub 2017 Jun 24. Review.

PMID:
28686997
7.

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, DiDonato S.

Am J Hum Genet. 1991 Feb;48(2):203-11.

8.

MERRF.

DiMauro S, Hirano M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Jun 3 [updated 2015 Jan 29].

9.

Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.

Peng Y, Crumley R, Ringman JM.

Mov Disord. 2003 Jun;18(6):716-8.

PMID:
12784281
10.

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
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
12.

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

Lorenzoni PJ, Scola RH, Kay CS, Silvado CE, Werneck LC.

Arq Neuropsiquiatr. 2014 Oct;72(10):803-11. Review.

13.

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S.

Eur J Hum Genet. 1993;1(1):80-7. Erratum in: Eur J Hum Genet 1993;1(2):124.

PMID:
8069654
14.

Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNA(Lys)(8344) (MERRF) mutation.

Thompson PD, Hammans SR, Harding AE.

J Neurol. 1994 Mar;241(5):335-40.

PMID:
8006688
15.

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
16.

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.

Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, Meyer E, Tyler JL, Diksic M, Arnold D, et al.

Brain. 1989 Oct;112 ( Pt 5):1231-60. Review.

PMID:
2508988
17.

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

Larsson NG, Tulinius MH, Holme E, Oldfors A, Andersen O, Wahlström J, Aasly J.

Am J Hum Genet. 1992 Dec;51(6):1201-12.

18.

Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibers.

Challa S, Kanikannan MA, Murthy JM, Bhoompally VR, Surath M.

Neurol India. 2004 Sep;52(3):353-8.

19.

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.

Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY.

Brain Dev. 2013 Jun;35(6):582-5. doi: 10.1016/j.braindev.2012.08.006. Epub 2012 Sep 13.

PMID:
22981260
20.

Mitochondrial disease and epilepsy.

Rahman S.

Dev Med Child Neurol. 2012 May;54(5):397-406. doi: 10.1111/j.1469-8749.2011.04214.x. Epub 2012 Jan 28. Review.

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