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Items: 1 to 50 of 131

1.

Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration.

Vagni P, Perlini LE, Chenais NAL, Marchetti T, Parrini M, Contestabile A, Cancedda L, Ghezzi D.

Front Neurosci. 2019 Sep 10;13:945. doi: 10.3389/fnins.2019.00945. eCollection 2019.

2.

Spatially selective activation of the visual cortex via intraneural stimulation of the optic nerve.

Gaillet V, Cutrone A, Artoni F, Vagni P, Mega Pratiwi A, Romero SA, Lipucci Di Paola D, Micera S, Ghezzi D.

Nat Biomed Eng. 2019 Aug 19. doi: 10.1038/s41551-019-0446-8. [Epub ahead of print]

PMID:
31427779
3.

Geomicrobiology of a seawater-influenced active sulfuric acid cave.

D'Angeli IM, Ghezzi D, Leuko S, Firrincieli A, Parise M, Fiorucci A, Vigna B, Addesso R, Baldantoni D, Carbone C, Miller AZ, Jurado V, Saiz-Jimenez C, De Waele J, Cappelletti M.

PLoS One. 2019 Aug 8;14(8):e0220706. doi: 10.1371/journal.pone.0220706. eCollection 2019.

4.
5.

Epileptic phenotypes in children with early-onset mitochondrial diseases.

Matricardi S, Canafoglia L, Ardissone A, Moroni I, Ragona F, Ghezzi D, Lamantea E, Nardocci N, Franceschetti S, Granata T.

Acta Neurol Scand. 2019 Sep;140(3):184-193. doi: 10.1111/ane.13130. Epub 2019 Jun 6.

PMID:
31102535
6.

New missense variants of NDUFA11 associated with late-onset myopathy.

Peverelli L, Legati A, Lamantea E, Nasca A, Lerario A, Galimberti V, Ghezzi D, Lamperti C.

Muscle Nerve. 2019 Aug;60(2):E11-E14. doi: 10.1002/mus.26511. Epub 2019 May 30. No abstract available.

PMID:
31074871
7.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M.

Hum Mutat. 2019 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18.

PMID:
31045291
8.

DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).

Catania A, Peverelli L, Tabano S, Ghezzi D, Lamperti C.

Neurol Sci. 2019 Sep;40(9):1963-1966. doi: 10.1007/s10072-019-03859-7. Epub 2019 Mar 25. No abstract available.

PMID:
30911858
9.

The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.

Martorano L, Peron M, Laquatra C, Lidron E, Facchinello N, Meneghetti G, Tiso N, Rasola A, Ghezzi D, Argenton F.

Dis Model Mech. 2019 Mar 14;12(3). pii: dmm037226. doi: 10.1242/dmm.037226.

10.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E.

Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.

PMID:
30801875
11.

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Catania A, Legati A, Peverelli L, Nanetti L, Marchet S, Zanetti N, Lamperti C, Ghezzi D.

Am J Med Genet A. 2019 May;179(5):827-831. doi: 10.1002/ajmg.a.61092. Epub 2019 Feb 17.

PMID:
30773800
12.

Conductive elastomer composites for fully polymeric, flexible bioelectronics.

Cuttaz E, Goding J, Vallejo-Giraldo C, Aregueta-Robles U, Lovell N, Ghezzi D, Green RA.

Biomater Sci. 2019 Mar 26;7(4):1372-1385. doi: 10.1039/c8bm01235k.

PMID:
30672514
13.

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration.

Nasca A, Nardecchia F, Commone A, Semeraro M, Legati A, Garavaglia B, Ghezzi D, Leuzzi V.

Front Genet. 2018 Dec 7;9:625. doi: 10.3389/fgene.2018.00625. eCollection 2018.

14.

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.

15.

Microbial diversity and biosignatures of amorphous silica deposits in orthoquartzite caves.

Sauro F, Cappelletti M, Ghezzi D, Columbu A, Hong PY, Zowawi HM, Carbone C, Piccini L, Vergara F, Zannoni D, De Waele J.

Sci Rep. 2018 Dec 4;8(1):17569. doi: 10.1038/s41598-018-35532-y.

16.

A microfabricated nerve-on-a-chip platform for rapid assessment of neural conduction in explanted peripheral nerve fibers.

Gribi S, du Bois de Dunilac S, Ghezzi D, Lacour SP.

Nat Commun. 2018 Oct 23;9(1):4403. doi: 10.1038/s41467-018-06895-7.

17.

Development and Characterization of PEDOT:PSS/Alginate Soft Microelectrodes for Application in Neuroprosthetics.

Ferlauto L, D'Angelo AN, Vagni P, Airaghi Leccardi MJI, Mor FM, Cuttaz EA, Heuschkel MO, Stoppini L, Ghezzi D.

Front Neurosci. 2018 Sep 19;12:648. doi: 10.3389/fnins.2018.00648. eCollection 2018.

18.

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.

Magri S, Fracasso V, Plumari M, Alfei E, Ghezzi D, Gellera C, Rusmini P, Poletti A, Di Bella D, Elia AE, Pantaleoni C, Taroni F.

Hum Mutat. 2018 Dec;39(12):2060-2071. doi: 10.1002/humu.23658. Epub 2018 Oct 10.

19.

Multilayer 3D electrodes for neural implants.

Airaghi Leccardi MJI, Vagni P, Ghezzi D.

J Neural Eng. 2019 Apr;16(2):026013. doi: 10.1088/1741-2552/aae191. Epub 2018 Sep 14.

PMID:
30215607
20.

Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.

Reyes A, Melchionda L, Burlina A, Robinson AJ, Ghezzi D, Zeviani M.

EMBO Mol Med. 2018 Oct;10(10). pii: e8698. doi: 10.15252/emmm.201708698.

21.

Human diseases associated with defects in assembly of OXPHOS complexes.

Ghezzi D, Zeviani M.

Essays Biochem. 2018 Jul 20;62(3):271-286. doi: 10.1042/EBC20170099. Print 2018 Jul 20. Review.

22.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

23.

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
24.

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Invernizzi F, Zorzi G, Legati A, Coppola G, D'Adamo P, Nardocci N, Garavaglia B, Ghezzi D.

Eur J Med Genet. 2018 Oct;61(10):581-584. doi: 10.1016/j.ejmg.2018.03.011. Epub 2018 Apr 3.

PMID:
29621620
25.

Upper stimulation threshold for retinal ganglion cell activation.

Meng K, Fellner A, Rattay F, Ghezzi D, Meffin H, Ibbotson MR, Kameneva T.

J Neural Eng. 2018 Aug;15(4):046012. doi: 10.1088/1741-2552/aabb7d. Epub 2018 Apr 4.

PMID:
29616983
26.

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D.

Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Review.

27.

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.

28.

Design and validation of a foldable and photovoltaic wide-field epiretinal prosthesis.

Ferlauto L, Airaghi Leccardi MJI, Chenais NAL, Gilliéron SCA, Vagni P, Bevilacqua M, Wolfensberger TJ, Sivula K, Ghezzi D.

Nat Commun. 2018 Mar 8;9(1):992. doi: 10.1038/s41467-018-03386-7.

29.

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Toldo I, Nosadini M, Boscardin C, Talenti G, Manara R, Lamantea E, Legati A, Ghezzi D, Perilongo G, Sartori S.

Metab Brain Dis. 2018 Jun;33(3):805-812. doi: 10.1007/s11011-017-0181-3. Epub 2018 Jan 23. Review.

PMID:
29359243
30.

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.

Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.

31.

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.

32.

Aerobic exercise and a BDNF-mimetic therapy rescue learning and memory in a mouse model of Down syndrome.

Parrini M, Ghezzi D, Deidda G, Medrihan L, Castroflorio E, Alberti M, Baldelli P, Cancedda L, Contestabile A.

Sci Rep. 2017 Dec 4;7(1):16825. doi: 10.1038/s41598-017-17201-8.

33.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

34.

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D.

J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27.

35.

Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.

McNeill N, Nasca A, Reyes A, Lemoine B, Cantarel B, Vanderver A, Schiffmann R, Ghezzi D.

Neurol Genet. 2017 Jul 14;3(4):e162. doi: 10.1212/NXG.0000000000000162. eCollection 2017 Aug.

36.

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.

37.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D.

Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6.

38.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS.

Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun.

39.

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.

40.

A fully organic retinal prosthesis restores vision in a rat model of degenerative blindness.

Maya-Vetencourt JF, Ghezzi D, Antognazza MR, Colombo E, Mete M, Feyen P, Desii A, Buschiazzo A, Di Paolo M, Di Marco S, Ticconi F, Emionite L, Shmal D, Marini C, Donelli I, Freddi G, Maccarone R, Bisti S, Sambuceti G, Pertile G, Lanzani G, Benfenati F.

Nat Mater. 2017 Jun;16(6):681-689. doi: 10.1038/nmat4874. Epub 2017 Mar 6.

41.

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
42.

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.

Martinez Lyons A, Ardissone A, Reyes A, Robinson AJ, Moroni I, Ghezzi D, Fernandez-Vizarra E, Zeviani M.

J Med Genet. 2016 Dec;53(12):846-849. doi: 10.1136/jmedgenet-2016-104194. Epub 2016 Sep 28.

43.

Diversity of Methane-Oxidizing Bacteria in Soils from "Hot Lands of Medolla" (Italy) Featured by Anomalous High-Temperatures and Biogenic CO2 Emission.

Cappelletti M, Ghezzi D, Zannoni D, Capaccioni B, Fedi S.

Microbes Environ. 2016 Dec 23;31(4):369-377. doi: 10.1264/jsme2.ME16087. Epub 2016 Sep 17.

44.

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M.

Am J Med Genet A. 2016 Nov;170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23.

PMID:
27549011
45.

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Nasca A, Legati A, Baruffini E, Nolli C, Moroni I, Ardissone A, Goffrini P, Ghezzi D.

Hum Mutat. 2016 Sep;37(9):898-903. doi: 10.1002/humu.23033. Epub 2016 Jul 11.

46.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.

47.

Characterization of a Polymer-Based, Fully Organic Prosthesis for Implantation into the Subretinal Space of the Rat.

Antognazza MR, Di Paolo M, Ghezzi D, Mete M, Di Marco S, Maya-Vetencourt JF, Maccarone R, Desii A, Di Fonzo F, Bramini M, Russo A, Laudato L, Donelli I, Cilli M, Freddi G, Pertile G, Lanzani G, Bisti S, Benfenati F.

Adv Healthc Mater. 2016 Sep;5(17):2271-82. doi: 10.1002/adhm.201600318. Epub 2016 May 30.

PMID:
27240295
48.

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Hikmat O, Tzoulis C, Knappskog PM, Johansson S, Boman H, Sztromwasser P, Lien E, Brodtkorb E, Ghezzi D, Bindoff LA.

Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. Epub 2016 Apr 23.

PMID:
27106809
49.

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Legati A, Reyes A, Nasca A, Invernizzi F, Lamantea E, Tiranti V, Garavaglia B, Lamperti C, Ardissone A, Moroni I, Robinson A, Ghezzi D, Zeviani M.

Biochim Biophys Acta. 2016 Aug;1857(8):1326-1335. doi: 10.1016/j.bbabio.2016.02.022. Epub 2016 Mar 8.

50.

Light-evoked hyperpolarization and silencing of neurons by conjugated polymers.

Feyen P, Colombo E, Endeman D, Nova M, Laudato L, Martino N, Antognazza MR, Lanzani G, Benfenati F, Ghezzi D.

Sci Rep. 2016 Mar 4;6:22718. doi: 10.1038/srep22718.

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