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Items: 1 to 50 of 174

1.

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Berti CC, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schöls L, Shalev S, Khayat M, Mahajnah M, Spiegel R.

J Inherit Metab Dis. 2018 Dec 27. doi: 10.1002/jimd.12022. [Epub ahead of print]

PMID:
30689204
2.

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.

Signes A, Cerutti R, Dickson AS, Benincá C, Hinchy EC, Ghezzi D, Carrozzo R, Bertini E, Murphy MP, Nathan JA, Viscomi C, Fernandez-Vizarra E, Zeviani M.

EMBO Mol Med. 2019 Jan;11(1). pii: e9582. doi: 10.15252/emmm.201809582.

3.

Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy.

Luigetti M, Primiano G, Bisogni G, Cuccagna C, Carrozzo R, Obici L, Bernardo D, Sancricca C, Servidei S.

Amyloid. 2018 Dec;25(4):261-262. doi: 10.1080/13506129.2018.1506919. Epub 2018 Sep 7. No abstract available.

PMID:
30193540
4.

The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.

Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, Dionisi-Vici C.

Clin Chim Acta. 2018 Nov;486:387-394. doi: 10.1016/j.cca.2018.08.039. Epub 2018 Aug 25.

PMID:
30153451
5.

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.

Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R.

Hum Mol Genet. 2018 Oct 15;27(20):3650. doi: 10.1093/hmg/ddy273. No abstract available.

PMID:
30113620
6.

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M.

Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29.

PMID:
29959261
7.

ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins.

Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R.

Hum Mol Genet. 2018 May 14. doi: 10.1093/hmg/ddy183. [Epub ahead of print]

PMID:
29767723
8.

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.

Semeraro M, Boenzi S, Carrozzo R, Diodato D, Martinelli D, Olivieri G, Antonetti G, Sacchetti E, Catesini G, Rizzo C, Dionisi-Vici C.

Clin Chim Acta. 2018 Jun;481:156-160. doi: 10.1016/j.cca.2018.03.002. Epub 2018 Mar 10.

PMID:
29534959
9.

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AM, Moroni I, Bertini E, Robinson A, Carrozzo R, Zeviani M, Ghezzi D.

J Hum Genet. 2018 May;63(5):563-568. doi: 10.1038/s10038-018-0423-1. Epub 2018 Mar 12.

10.

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Castiglioni C, Fattori F, Udd B, de Los Angeles Avaria M, Suarez B, D'Amico A, Malandrini A, Carrozzo R, Verrigni D, Bertini E, Tasca G.

Eur J Hum Genet. 2018 Mar;26(3):367-373. doi: 10.1038/s41431-017-0003-4. Epub 2018 Jan 22.

PMID:
29358615
11.

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Piano Mortari E, Folgiero V, Marcellini V, Romania P, Bellacchio E, D'Alicandro V, Bocci C, Carrozzo R, Martinelli D, Petrini S, Axiotis E, Farroni C, Locatelli F, Schara U, Pilz DT, Jungbluth H, Dionisi-Vici C, Carsetti R.

Autophagy. 2018;14(1):22-37. doi: 10.1080/15548627.2017.1389356. Epub 2018 Jan 2.

12.

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.

Petrillo S, Piermarini E, Pastore A, Vasco G, Schirinzi T, Carrozzo R, Bertini E, Piemonte F.

Int J Mol Sci. 2017 Oct 18;18(10). pii: E2173. doi: 10.3390/ijms18102173.

13.

The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.

Pezzini F, Bianchi M, Benfatto S, Griggio F, Doccini S, Carrozzo R, Dapkunas A, Delledonne M, Santorelli FM, Lalowski MM, Simonati A.

Front Mol Neurosci. 2017 Aug 22;10:266. doi: 10.3389/fnmol.2017.00266. eCollection 2017.

14.

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E.

Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22.

PMID:
28760337
15.

Identification of a Genetic Variation in ERAP1 Aminopeptidase that Prevents Human Cytomegalovirus miR-UL112-5p-Mediated Immunoevasion.

Romania P, Cifaldi L, Pignoloni B, Starc N, D'Alicandro V, Melaiu O, Li Pira G, Giorda E, Carrozzo R, Bergvall M, Bergström T, Alfredsson L, Olsson T, Kockum I, Seppälä I, Lehtimäki T, Hurme MA, Hengel H, Santoni A, Cerboni C, Locatelli F, D'Amato M, Fruci D.

Cell Rep. 2017 Jul 25;20(4):846-853. doi: 10.1016/j.celrep.2017.06.084.

16.

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Haidar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB.

Clin Chim Acta. 2017 Aug;471:95-100. doi: 10.1016/j.cca.2017.05.023. Epub 2017 May 17.

PMID:
28526534
17.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D.

Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1.

18.

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.

Di Nottia M, Montanari A, Verrigni D, Oliva R, Torraco A, Fernandez-Vizarra E, Diodato D, Rizza T, Bianchi M, Catteruccia M, Zeviani M, Dionisi-Vici C, Francisci S, Bertini E, Carrozzo R.

Biochim Biophys Acta Mol Basis Dis. 2017 Apr;1863(4):961-967. doi: 10.1016/j.bbadis.2017.01.022. Epub 2017 Jan 26.

19.

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Lucia Valentino M, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E.

Neurogenetics. 2017 Jan;18(1):69. doi: 10.1007/s10048-016-0501-5. No abstract available.

PMID:
27913898
20.

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

Verrigni D, Diodato D, Di Nottia M, Torraco A, Bellacchio E, Rizza T, Tozzi G, Verardo M, Piemonte F, Tasca G, D'Amico A, Bertini E, Carrozzo R.

Clin Genet. 2017 Jun;91(6):918-923. doi: 10.1111/cge.12931. Epub 2017 Mar 17.

PMID:
27891585
21.

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R.

J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26.

PMID:
27785568
22.

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

Di Nottia M, Masciullo M, Verrigni D, Petrillo S, Modoni A, Rizzo V, Di Giuda D, Rizza T, Niceta M, Torraco A, Bianchi M, Santoro M, Bentivoglio AR, Bertini E, Piemonte F, Carrozzo R, Silvestri G.

Clin Genet. 2017 Jul;92(1):18-25. doi: 10.1111/cge.12841. Epub 2016 Oct 6.

PMID:
27460976
23.

Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells.

Pezzini F, Bettinetti L, Di Leva F, Bianchi M, Zoratti E, Carrozzo R, Santorelli FM, Delledonne M, Lalowski M, Simonati A.

Cell Mol Neurobiol. 2017 May;37(4):665-682. doi: 10.1007/s10571-016-0403-y. Epub 2016 Jul 15.

PMID:
27422411
24.

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R.

Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25.

PMID:
27102574
25.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E.

Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29.

PMID:
26912632
26.

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Maio N, Ghezzi D, Verrigni D, Rizza T, Bertini E, Martinelli D, Zeviani M, Singh A, Carrozzo R, Rouault TA.

Cell Metab. 2016 Feb 9;23(2):292-302. doi: 10.1016/j.cmet.2015.12.005. Epub 2015 Dec 31.

27.

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Valentino ML, Valentino L, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E.

Neurogenetics. 2016 Jan;17(1):65-70. doi: 10.1007/s10048-015-0465-x. Epub 2015 Nov 10. Erratum in: Neurogenetics. 2017 Jan;18(1):69. Carozzo, Rosalba [Corrected to Carrozzo, Rosalba]. Neurogenetics. 2016 Apr;17(2):143. Valentino, Lucia [Corrected to Valentino, M. Lucia].

PMID:
26556812
28.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.

J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.

PMID:
26475597
29.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E.

Eur J Hum Genet. 2016 Mar;24(3):463-6. doi: 10.1038/ejhg.2015.141. Epub 2015 Jul 15.

30.

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

Castiglioni C, Verrigni D, Okuma C, Diaz A, Alvarez K, Rizza T, Carrozzo R, Bertini E, Miranda M.

Eur J Paediatr Neurol. 2015 Sep;19(5):497-503. doi: 10.1016/j.ejpn.2015.04.008. Epub 2015 May 14. Review.

PMID:
26008863
31.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D.

Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023.

32.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H.

Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26.

33.

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.

Carrozzo R, Torraco A, Fiermonte G, Martinelli D, Di Nottia M, Rizza T, Vozza A, Verrigni D, Diodato D, Parisi G, Maiorana A, Rizzo C, Pierri CL, Zucano S, Piemonte F, Bertini E, Dionisi-Vici C.

Mitochondrion. 2014 Sep;18:49-57. doi: 10.1016/j.mito.2014.09.006. Epub 2014 Sep 22.

PMID:
25251739
34.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.

Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28.

35.

'Behr syndrome' with OPA1 compound heterozygote mutations.

Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E.

Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. No abstract available.

36.

A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.

Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, Bertini E, Pastore A, Dionisi-Vici C, Johnson DW.

Clin Chim Acta. 2014 Nov 1;437:93-100. doi: 10.1016/j.cca.2014.07.010. Epub 2014 Jul 16.

PMID:
25038260
37.

Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.

Travaglione S, Loizzo S, Rizza T, Del Brocco A, Ballan G, Guidotti M, Vona R, Di Nottia M, Torraco A, Carrozzo R, Fiorentini C, Fabbri A.

FEBS J. 2014 Aug;281(15):3473-88. doi: 10.1111/febs.12874. Epub 2014 Jul 1.

38.

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis.

Carletti B, Piermarini E, Tozzi G, Travaglini L, Torraco A, Pastore A, Sparaco M, Petrillo S, Carrozzo R, Bertini E, Piemonte F.

Int J Mol Sci. 2014 Apr 4;15(4):5789-806. doi: 10.3390/ijms15045789.

39.

Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial.

Torraco A, Carrozzo R, Piemonte F, Pastore A, Tozzi G, Verrigni D, Assenza M, Orecchioni A, D'Egidio A, Marraffa E, Landoni G, Bertini E, Morelli A.

Biochimie. 2014 Jul;102:166-73. doi: 10.1016/j.biochi.2014.03.006. Epub 2014 Mar 19.

PMID:
24657218
40.

Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.

Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C.

Mol Genet Metab. 2014 Mar;111(3):353-359. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8.

PMID:
24485043
41.

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies.

Pastore A, Petrillo S, Tozzi G, Carrozzo R, Martinelli D, Dionisi-Vici C, Di Giovamberardino G, Ceravolo F, Klein MB, Miller G, Enns GM, Bertini E, Piemonte F.

Mol Genet Metab. 2013 Jun;109(2):208-14. doi: 10.1016/j.ymgme.2013.03.011. Epub 2013 Mar 24.

PMID:
23583222
42.

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.

Nogueira C, Barros J, Sá MJ, Azevedo L, Taipa R, Torraco A, Meschini MC, Verrigni D, Nesti C, Rizza T, Teixeira J, Carrozzo R, Pires MM, Vilarinho L, Santorelli FM.

Neurogenetics. 2013 May;14(2):153-60. doi: 10.1007/s10048-013-0361-1. Epub 2013 Mar 28.

PMID:
23532514
43.

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.

Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C.

Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. Erratum in: Brain. 2013 Oct;136(Pt 10):e256.

PMID:
23423674
44.

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.

Ciccolella M, Corti S, Catteruccia M, Petrini S, Tozzi G, Rizza T, Carrozzo R, Nizzardo M, Bordoni A, Ronchi D, D'Amico A, Rizzo C, Comi GP, Bertini E.

J Med Genet. 2013 Feb;50(2):104-7. doi: 10.1136/jmedgenet-2012-101204. Epub 2012 Dec 14.

PMID:
23243084
45.

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Torraco A, Verrigni D, Rizza T, Meschini MC, Vazquez-Memije ME, Martinelli D, Bianchi M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R.

Neurogenetics. 2012 Nov;13(4):375-86. doi: 10.1007/s10048-012-0343-8. Epub 2012 Sep 18.

PMID:
22986587
46.

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Libernini L, Lupis C, Mastrangelo M, Carrozzo R, Santorelli FM, Inghilleri M, Leuzzi V.

Neuropediatrics. 2012 Aug;43(4):201-8. doi: 10.1055/s-0032-1315431. Epub 2012 May 22.

PMID:
22618301
47.

Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.

Petruzzella V, Carrozzo R, Calabrese C, Dell'Aglio R, Trentadue R, Piredda R, Artuso L, Rizza T, Bianchi M, Porcelli AM, Guerriero S, Gasparre G, Attimonelli M.

Hum Mol Genet. 2012 Sep 1;21(17):3753-64. doi: 10.1093/hmg/dds182. Epub 2012 May 15.

PMID:
22589247
48.

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E.

J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8.

PMID:
22569581
49.

Protein glutathionylation in cellular compartments: a constitutive redox signal.

Petrini S, Passarelli C, Pastore A, Tozzi G, Coccetti M, Colucci M, Bianchi M, Carrozzo R, Bertini E, Piemonte F.

Redox Rep. 2012;17(2):63-71. doi: 10.1179/1351000212Y.0000000009.

PMID:
22564349
50.

Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer.

Putignani L, Raffa S, Pescosolido R, Rizza T, Del Chierico F, Leone L, Aimati L, Signore F, Carrozzo R, Callea F, Torrisi MR, Grammatico P.

Mitochondrion. 2012 May;12(3):363-9. doi: 10.1016/j.mito.2012.02.003. Epub 2012 Feb 18.

PMID:
22366096

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