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Items: 1 to 20 of 25

1.

Muscle pain in mitochondrial diseases: a picture from the Italian network.

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M.

J Neurol. 2019 Apr;266(4):953-959. doi: 10.1007/s00415-019-09219-x. Epub 2019 Feb 2.

PMID:
30710167
2.

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.

Aretini P, Mazzanti CM, La Ferla M, Franceschi S, Lessi F, De Gregorio V, Nesti C, Valetto A, Bertini V, Toschi B, Battini R, Caligo MA.

BMC Neurol. 2018 Jul 20;18(1):99. doi: 10.1186/s12883-018-1103-7.

3.

Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.

Lemoine S, Panaye M, Rabeyrin M, Errazuriz-Cerda E, Mousson de Camaret B, Petiot P, Juillard L, Guebre-Egziabher F.

Am J Kidney Dis. 2018 May;71(5):754-757. doi: 10.1053/j.ajkd.2017.09.020. Epub 2017 Dec 8.

PMID:
29224958
4.

A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.

Mordel P, Schaeffer S, Dupas Q, Laville MA, Gérard M, Chapon F, Allouche S.

Biochem Biophys Res Commun. 2017 Dec 9;494(1-2):133-137. doi: 10.1016/j.bbrc.2017.10.066. Epub 2017 Oct 18.

PMID:
29054413
5.

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

Kytövuori L, Lipponen J, Rusanen H, Komulainen T, Martikainen MH, Majamaa K.

J Neurol. 2016 Nov;263(11):2188-2195. Epub 2016 Aug 8.

PMID:
27502083
6.

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

Claeys KG, Abicht A, Häusler M, Kleinle S, Wiesmann M, Schulz JB, Horvath R, Weis J.

Muscle Nerve. 2016 Aug;54(2):328-33. doi: 10.1002/mus.25125.

PMID:
27015314
7.

Selective elimination of mitochondrial mutations in the germline by genome editing.

Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, Del Mar O'Callaghan M, Campistol J, Zhao H, Campistol JM, Moraes CT, Izpisua Belmonte JC.

Cell. 2015 Apr 23;161(3):459-469. doi: 10.1016/j.cell.2015.03.051.

8.

Perspectives of drug-based neuroprotection targeting mitochondria.

Procaccio V, Bris C, Chao de la Barca JM, Oca F, Chevrollier A, Amati-Bonneau P, Bonneau D, Reynier P.

Rev Neurol (Paris). 2014 May;170(5):390-400. doi: 10.1016/j.neurol.2014.03.005. Epub 2014 May 1. Review.

PMID:
24792485
9.

A magic bullet to specifically eliminate mutated mitochondrial genomes from patients' cells.

Moraes CT.

EMBO Mol Med. 2014 Apr;6(4):434-5. doi: 10.1002/emmm.201303769. Epub 2014 Mar 12.

10.

Mitochondrial biogenesis: pharmacological approaches.

Valero T.

Curr Pharm Des. 2014;20(35):5507-9.

PMID:
24606795
11.

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations.

Gammage PA, Rorbach J, Vincent AI, Rebar EJ, Minczuk M.

EMBO Mol Med. 2014 Apr;6(4):458-66. doi: 10.1002/emmm.201303672. Epub 2014 Feb 24.

12.

Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.

Blanco-Grau A, Bonaventura-Ibars I, Coll-Cantí J, Melià MJ, Martinez R, Martínez-Gallo M, Andreu AL, Pinós T, García-Arumí E.

Genes Brain Behav. 2013 Nov;12(8):812-20. doi: 10.1111/gbb.12089. Epub 2013 Oct 25.

13.

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen AL.

Gene. 2013 Feb 25;515(2):372-5. doi: 10.1016/j.gene.2012.12.066. Epub 2012 Dec 20.

PMID:
23266623
14.

Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients.

Lebiedzinska M, Karkucinska-Wieckowska A, Wojtala A, Suski JM, Szabadkai G, Wilczynski G, Wlodarczyk J, Diogo CV, Oliveira PJ, Tauber J, Ježek P, Pronicki M, Duszynski J, Pinton P, Wieckowski MR.

Int J Biochem Cell Biol. 2013 Jan;45(1):141-50. doi: 10.1016/j.biocel.2012.07.020. Epub 2012 Jul 31.

PMID:
22885148
15.

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
16.

Posterior leukoencephalopathy in NARP syndrome.

Renard D, Labauge P.

Acta Neurol Belg. 2012 Dec;112(4):417-8. doi: 10.1007/s13760-012-0081-6. Epub 2012 May 12. No abstract available.

PMID:
22581516
17.

Epilepsy in mitochondrial disorders.

Finsterer J, Zarrouk Mahjoub S.

Seizure. 2012 Jun;21(5):316-21. doi: 10.1016/j.seizure.2012.03.003. Epub 2012 Mar 27. Review.

18.

Inherited mitochondrial disorders.

Finsterer J.

Adv Exp Med Biol. 2012;942:187-213. doi: 10.1007/978-94-007-2869-1_8. Review.

PMID:
22399423
19.

Cognitive dysfunction in mitochondrial disorders.

Finsterer J.

Acta Neurol Scand. 2012 Jul;126(1):1-11. doi: 10.1111/j.1600-0404.2012.01649.x. Epub 2012 Feb 15.

PMID:
22335339
20.

A yeast-based assay identifies drugs active against human mitochondrial disorders.

Couplan E, Aiyar RS, Kucharczyk R, Kabala A, Ezkurdia N, Gagneur J, St Onge RP, Salin B, Soubigou F, Le Cann M, Steinmetz LM, di Rago JP, Blondel M.

Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):11989-94. doi: 10.1073/pnas.1101478108. Epub 2011 Jun 29.

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