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Items: 1 to 20 of 119

1.

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

Marchet S, Invernizzi F, Blasevich F, Bruno V, Dusi S, Venco P, Fiorillo C, Baranello G, Pallotti F, Lamantea E, Mora M, Tiranti V, Lamperti C.

Mitochondrion. 2019 Apr 12;47:24-29. doi: 10.1016/j.mito.2019.04.002. [Epub ahead of print]

PMID:
30986505
2.

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition.

Levi S, Tiranti V.

Pharmaceuticals (Basel). 2019 Feb 9;12(1). pii: E27. doi: 10.3390/ph12010027. Review.

3.

Inborn errors of coenzyme A metabolism and neurodegeneration.

Di Meo I, Carecchio M, Tiranti V.

J Inherit Metab Dis. 2019 Jan;42(1):49-56. doi: 10.1002/jimd.12026. Review.

PMID:
30740736
4.

Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways.

Podrini C, Rowe I, Pagliarini R, Costa ASH, Chiaravalli M, Di Meo I, Kim H, Distefano G, Tiranti V, Qian F, di Bernardo D, Frezza C, Boletta A.

Commun Biol. 2018 Nov 16;1:194. doi: 10.1038/s42003-018-0200-x. eCollection 2018.

5.

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.

Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini ML, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V.

Neurogenetics. 2018 Aug;19(3):179-187. doi: 10.1007/s10048-018-0552-x. Epub 2018 Jul 3.

PMID:
29971521
6.

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.

Quadalti C, Brunetti D, Lagutina I, Duchi R, Perota A, Lazzari G, Cerutti R, Di Meo I, Johnson M, Bottani E, Crociara P, Corona C, Grifoni S, Tiranti V, Fernandez-Vizarra E, Robinson AJ, Viscomi C, Casalone C, Zeviani M, Galli C.

Biochim Biophys Acta Mol Basis Dis. 2018 Jun;1864(6 Pt A):2131-2142. doi: 10.1016/j.bbadis.2018.03.021. Epub 2018 Mar 28.

7.

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.

Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE.

Mol Genet Metab. 2018 May;124(1):57-63. doi: 10.1016/j.ymgme.2018.02.008. Epub 2018 Feb 14.

PMID:
29526615
8.

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.

9.

Classification and molecular pathogenesis of NBIA syndromes.

Di Meo I, Tiranti V.

Eur J Paediatr Neurol. 2018 Mar;22(2):272-284. doi: 10.1016/j.ejpn.2018.01.008. Epub 2018 Jan 17. Review.

PMID:
29409688
10.

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A.

Hum Mol Genet. 2018 Feb 1;27(3):499-504. doi: 10.1093/hmg/ddx419.

11.

Ethylmalonic Encephalopathy.

Di Meo I, Lamperti C, Tiranti V.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Sep 21.

12.

Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.

Di Meo I, Colombelli C, Srinivasan B, de Villiers M, Hamada J, Jeong SY, Fox R, Woltjer RL, Tepper PG, Lahaye LL, Rizzetto E, Harrs CH, de Boer T, van der Zwaag M, Jenko B, Čusak A, Pahor J, Kosec G, Grzeschik NA, Hayflick SJ, Tiranti V, Sibon OCM.

Sci Rep. 2017 Sep 12;7(1):11260. doi: 10.1038/s41598-017-11564-8.

13.

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A, Vitale A, Garavaglia B, Iuso A, Bagella CF, Pappatà S, Barone P, Prokisch H, Romito L, Tiranti V.

Neurogenetics. 2017 Jul;18(3):175-178. doi: 10.1007/s10048-017-0518-4. Epub 2017 Jun 29.

PMID:
28664294
14.

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H.

Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.

15.

Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization.

Girolimetti G, Guerra F, Iommarini L, Kurelac I, Vergara D, Maffia M, Vidone M, Amato LB, Leone G, Dusi S, Tiranti V, Perrone AM, Bucci C, Porcelli AM, Gasparre G.

Hum Mol Genet. 2017 Aug 1;26(15):2961-2974. doi: 10.1093/hmg/ddx186.

PMID:
28486623
16.

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.

Aoun M, Corsetto PA, Nugue G, Montorfano G, Ciusani E, Crouzier D, Hogarth P, Gregory A, Hayflick S, Zorzi G, Rizzo AM, Tiranti V.

Mol Genet Metab. 2017 Jun;121(2):180-189. doi: 10.1016/j.ymgme.2017.04.006. Epub 2017 Apr 18.

PMID:
28456385
17.

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.

Vidoni S, Harbour ME, Guerrero-Castillo S, Signes A, Ding S, Fearnley IM, Taylor RW, Tiranti V, Arnold S, Fernandez-Vizarra E, Zeviani M.

Cell Rep. 2017 Feb 14;18(7):1727-1738. doi: 10.1016/j.celrep.2017.01.044.

18.

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM.

EMBO Mol Med. 2017 Jan;9(1):96-111. doi: 10.15252/emmm.201606356.

19.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ.

Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3.

20.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T.

Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

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