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Items: 1 to 20 of 302

1.

Novel mutations in DNA2 associated with myopathy and mtDNA instability.

Ronchi D, Liu C, Caporali L, Piga D, Li H, Tagliavini F, Valentino ML, Ferrò MT, Bini P, Zheng L, Carelli V, Shen B, Comi GP.

Ann Clin Transl Neurol. 2019 Sep 2. doi: 10.1002/acn3.50888. [Epub ahead of print]

2.

Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy.

Santarelli R, La Morgia C, Valentino ML, Barboni P, Monteleone A, Scimemi P, Carelli V.

Front Neurosci. 2019 May 28;13:501. doi: 10.3389/fnins.2019.00501. eCollection 2019.

3.

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness.

La Morgia C, Caporali L, Tagliavini F, Palombo F, Carbonelli M, Liguori R, Barboni P, Carelli V.

Neurol Genet. 2019 Apr 8;5(3):e329. doi: 10.1212/NXG.0000000000000329. eCollection 2019 Jun. No abstract available.

4.

Exploring metabolic reprogramming in melanoma via acquired resistance to the oxidative phosphorylation inhibitor phenformin.

Pistoni M, Tondelli G, Gallo C, Torricelli F, Maresca A, Carelli V, Ciarrocchi A, Dallaglio K.

Melanoma Res. 2019 May 20. doi: 10.1097/CMR.0000000000000624. [Epub ahead of print]

PMID:
31116160
5.

Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber's Hereditary Optic Neuropathy during One Year of Follow-up.

Parisi V, Ziccardi L, Sadun F, De Negri AM, La Morgia C, Barbano L, Carelli V, Barboni P.

Ophthalmology. 2019 Jul;126(7):1033-1044. doi: 10.1016/j.ophtha.2019.02.018. Epub 2019 Feb 26.

6.

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
7.

Melanopsin Retinal Ganglion Cells and Pupil: Clinical Implications for Neuro-Ophthalmology.

La Morgia C, Carelli V, Carbonelli M.

Front Neurol. 2018 Dec 7;9:1047. doi: 10.3389/fneur.2018.01047. eCollection 2018. Review.

8.

Effects of Light Treatment on Sleep, Cognition, Mood, and Behavior in Alzheimer's Disease: A Systematic Review.

Mitolo M, Tonon C, La Morgia C, Testa C, Carelli V, Lodi R.

Dement Geriatr Cogn Disord. 2018;46(5-6):371-384. doi: 10.1159/000494921. Epub 2018 Dec 11.

9.

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models.

Del Dotto V, Fogazza M, Musiani F, Maresca A, Aleo SJ, Caporali L, La Morgia C, Nolli C, Lodi T, Goffrini P, Chan D, Carelli V, Rugolo M, Baruffini E, Zanna C.

Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3496-3514. doi: 10.1016/j.bbadis.2018.08.004. Epub 2018 Aug 4.

PMID:
30293569
10.

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Trifunov S, Pyle A, Valentino ML, Liguori R, Yu-Wai-Man P, Burté F, Duff J, Kleinle S, Diebold I, Rugolo M, Horvath R, Carelli V.

Sci Rep. 2018 Aug 3;8(1):11682. doi: 10.1038/s41598-018-30143-z.

11.

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years.

Carelli V, La Morgia C.

Essays Biochem. 2018 Jul 20;62(3):235-254. doi: 10.1042/EBC20170097. Print 2018 Jul 20. Review.

PMID:
30030360
12.

Corrigendum to: "Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III." [Biochim. Biophys. Acta 2018;1859(3):182-190.].

Tropeano CV, Fiori J, Carelli V, Caporali L, Daldal F, Ghelli AM, Rugolo M.

Biochim Biophys Acta Bioenerg. 2018 Dec;1859(12):1327. doi: 10.1016/j.bbabio.2018.06.010. Epub 2018 Jun 29. No abstract available.

PMID:
29909117
13.

Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria.

Ayeni FA, Biagi E, Rampelli S, Fiori J, Soverini M, Audu HJ, Cristino S, Caporali L, Schnorr SL, Carelli V, Brigidi P, Candela M, Turroni S.

Cell Rep. 2018 Jun 5;23(10):3056-3067. doi: 10.1016/j.celrep.2018.05.018.

14.

Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker.

Balducci N, Cascavilla ML, Ciardella A, La Morgia C, Triolo G, Parisi V, Bandello F, Sadun AA, Carelli V, Barboni P.

Clin Exp Ophthalmol. 2018 Dec;46(9):1055-1062. doi: 10.1111/ceo.13326. Epub 2018 Jun 20.

PMID:
29790285
15.

The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects.

Giorgio V, Schiavone M, Galber C, Carini M, Da Ros T, Petronilli V, Argenton F, Carelli V, Acosta Lopez MJ, Salviati L, Prato M, Bernardi P.

Biochim Biophys Acta Bioenerg. 2018 Sep;1859(9):901-908. doi: 10.1016/j.bbabio.2018.04.006. Epub 2018 Apr 22.

16.

Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations.

Chen Q, Kirk K, Shurubor YI, Zhao D, Arreguin AJ, Shahi I, Valsecchi F, Primiano G, Calder EL, Carelli V, Denton TT, Beal MF, Gross SS, Manfredi G, D'Aurelio M.

Cell Metab. 2018 May 1;27(5):1007-1025.e5. doi: 10.1016/j.cmet.2018.03.002. Epub 2018 Apr 12.

17.

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.

Strobbe D, Caporali L, Iommarini L, Maresca A, Montopoli M, Martinuzzi A, Achilli A, Olivieri A, Torroni A, Carelli V, Ghelli A.

Neurobiol Dis. 2018 Jun;114:129-139. doi: 10.1016/j.nbd.2018.02.010. Epub 2018 Feb 24.

PMID:
29486301
18.

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models.

Iannielli A, Bido S, Folladori L, Segnali A, Cancellieri C, Maresca A, Massimino L, Rubio A, Morabito G, Caporali L, Tagliavini F, Musumeci O, Gregato G, Bezard E, Carelli V, Tiranti V, Broccoli V.

Cell Rep. 2018 Feb 20;22(8):2066-2079. doi: 10.1016/j.celrep.2018.01.089.

19.

OPA1: How much do we know to approach therapy?

Del Dotto V, Fogazza M, Lenaers G, Rugolo M, Carelli V, Zanna C.

Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Review.

PMID:
29454676
20.

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A, Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V.

PLoS Genet. 2018 Feb 14;14(2):e1007210. doi: 10.1371/journal.pgen.1007210. eCollection 2018 Feb.

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