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Items: 1 to 50 of 81

1.

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.

PMID:
31191217
2.

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.

3.

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 Feb 26. pii: S0161-6420(18)33301-3. doi: 10.1016/j.ophtha.2019.02.018. [Epub ahead of print]

4.

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.

5.

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.

6.

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
7.

The search for Parkinson disease biomarkers: Retinal thinning as a correlate of dopamine loss.

Adams JL, La Morgia C.

Neurology. 2018 Sep 11;91(11):493-494. doi: 10.1212/WNL.0000000000006148. Epub 2018 Aug 15. No abstract available.

PMID:
30111551
8.

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
9.

Idiopathic Intracranial Hypertension Without Papilledema (IIHWOP) in Chronic Refractory Headache.

Favoni V, Pierangeli G, Toni F, Cirillo L, La Morgia C, Abu-Rumeileh S, Messia M, Agati R, Cortelli P, Cevoli S.

Front Neurol. 2018 Jun 26;9:503. doi: 10.3389/fneur.2018.00503. eCollection 2018.

10.

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
11.

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.

12.

Patterns of Retinal Ganglion Cell Damage in Neurodegenerative Disorders: Parvocellular vs Magnocellular Degeneration in Optical Coherence Tomography Studies.

La Morgia C, Di Vito L, Carelli V, Carbonelli M.

Front Neurol. 2017 Dec 22;8:710. doi: 10.3389/fneur.2017.00710. eCollection 2017. Review.

13.

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Caporali L, Bello L, Tagliavini F, La Morgia C, Maresca A, Di Vito L, Liguori R, Valentino ML, Cecchin D, Pegoraro E, Carelli V.

Brain. 2018 Jan 1;141(1):e3. doi: 10.1093/brain/awx301. No abstract available.

PMID:
29228108
14.

Is the Epworth Sleepiness Scale a useful tool for screening excessive daytime sleepiness in commercial drivers?

Baiardi S, La Morgia C, Sciamanna L, Gerosa A, Cirignotta F, Mondini S.

Accid Anal Prev. 2018 Jan;110:187-189. doi: 10.1016/j.aap.2017.10.008. Epub 2017 Nov 1.

PMID:
29074223
15.

The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy.

Karanjia R, Berezovsky A, Sacai PY, Cavascan NN, Liu HY, Nazarali S, Moraes-Filho MN, Anderson K, Tran JS, Watanabe SE, Moraes MN, Sadun F, DeNegri AM, Barboni P, do Val Ferreira Ramos C, La Morgia C, Carelli V, Belfort R Jr, Coupland SG, Salomao SR, Sadun AA.

Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO300-BIO306. doi: 10.1167/iovs.17-21773.

PMID:
29049835
16.

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P.

J Neuroophthalmol. 2017 Dec;37(4):371-381. doi: 10.1097/WNO.0000000000000570.

PMID:
28991104
17.

Optic neuropathies: the tip of the neurodegeneration iceberg.

Carelli V, La Morgia C, Ross-Cisneros FN, Sadun AA.

Hum Mol Genet. 2017 Oct 1;26(R2):R139-R150. doi: 10.1093/hmg/ddx273. Review.

18.

Incomplete penetrance in mitochondrial optic neuropathies.

Caporali L, Maresca A, Capristo M, Del Dotto V, Tagliavini F, Valentino ML, La Morgia C, Carelli V.

Mitochondrion. 2017 Sep;36:130-137. doi: 10.1016/j.mito.2017.07.004. Epub 2017 Jul 14. Review.

PMID:
28716668
19.

Retinal Ganglion Cells and Circadian Rhythms in Alzheimer's Disease, Parkinson's Disease, and Beyond.

La Morgia C, Ross-Cisneros FN, Sadun AA, Carelli V.

Front Neurol. 2017 May 4;8:162. doi: 10.3389/fneur.2017.00162. eCollection 2017. Review.

20.

Melanopsin-expressing retinal ganglion cells are resistant to cell injury, but not always.

Georg B, Ghelli A, Giordano C, Ross-Cisneros FN, Sadun AA, Carelli V, Hannibal J, La Morgia C.

Mitochondrion. 2017 Sep;36:77-84. doi: 10.1016/j.mito.2017.04.003. Epub 2017 Apr 12. Review.

PMID:
28412540
21.

A 15-year epileptogenic period after perinatal brain injury.

Pisani F, Pavlidis E, Facini C, La Morgia C, Fusco C, Cantalupo G.

Funct Neurol. 2017 Jan/Mar;32(1):49-53.

22.

Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy.

Balducci N, Ciardella A, Gattegna R, Zhou Q, Cascavilla ML, La Morgia C, Savini G, Parisi V, Bandello F, Carelli V, Barboni P.

Mitochondrion. 2017 Sep;36:60-65. doi: 10.1016/j.mito.2017.03.002. Epub 2017 Mar 10.

PMID:
28286264
23.

Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease.

Giannoccaro MP, La Morgia C, Rizzo G, Carelli V.

Mov Disord. 2017 Mar;32(3):346-363. doi: 10.1002/mds.26966. Epub 2017 Mar 2. Review.

PMID:
28251677
24.

Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series.

Hwang TJ, Karanjia R, Moraes-Filho MN, Gale J, Tran JS, Chu ER, Salomao SR, Berezovsky A, Belfort R Jr, Moraes MN, Sadun F, DeNegri AM, La Morgia C, Barboni P, Ramos CDVF, Chicani CF, Quiros PA, Carelli V, Sadun AA.

Ophthalmology. 2017 Jun;124(6):843-850. doi: 10.1016/j.ophtha.2017.01.002. Epub 2017 Feb 10.

PMID:
28196731
25.

P027. Idiopathic intracranial hypertension without papilledema in refractory chronic daily headache.

Favoni V, Toni F, Cevoli S, Cirillo L, La Morgia C, Giannini G, Terlizzi R, Hrustemovic HP, Messia M, Cortelli P, Pierangeli G.

J Headache Pain. 2015 Dec;16(Suppl 1):A108. doi: 10.1186/1129-2377-16-S1-A108. No abstract available.

26.

Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy.

Borrelli E, Triolo G, Cascavilla ML, La Morgia C, Rizzo G, Savini G, Balducci N, Nucci P, Giglio R, Darvizeh F, Parisi V, Bandello F, Sadun AA, Carelli V, Barboni P.

Sci Rep. 2016 Nov 17;6:37332. doi: 10.1038/srep37332.

27.

A neurodegenerative perspective on mitochondrial optic neuropathies.

Yu-Wai-Man P, Votruba M, Burté F, La Morgia C, Barboni P, Carelli V.

Acta Neuropathol. 2016 Dec;132(6):789-806. Epub 2016 Sep 30. Review.

28.

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Santarelli R, Cama E, Scimemi P, La Morgia C, Caporali L, Valentino ML, Liguori R, Carelli V.

Brain. 2016 Jun;139(Pt 6):e34. doi: 10.1093/brain/aww052. Epub 2016 Mar 25. No abstract available.

PMID:
27016406
29.

Re: Pilat et al.: High-resolution imaging of the optic nerve and retina in optic nerve hypoplasia (Ophthalmology 2015;122:1330-9).

Barboni P, Savini G, Carelli V, Balducci N, La Morgia C, Bandello F, Sadun AA.

Ophthalmology. 2016 Mar;123(3):e19-20. doi: 10.1016/j.ophtha.2015.09.034. No abstract available.

PMID:
26902567
30.

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways.

Giordano L, Deceglie S, d'Adamo P, Valentino ML, La Morgia C, Fracasso F, Roberti M, Cappellari M, Petrosillo G, Ciaravolo S, Parente D, Giordano C, Maresca A, Iommarini L, Del Dotto V, Ghelli AM, Salomao SR, Berezovsky A, Belfort R Jr, Sadun AA, Carelli V, Loguercio Polosa P, Cantatore P.

Cell Death Dis. 2015 Dec 17;6:e2021. doi: 10.1038/cddis.2015.364.

31.

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Carelli V, d'Adamo P, Valentino ML, La Morgia C, Ross-Cisneros FN, Caporali L, Maresca A, Loguercio Polosa P, Barboni P, De Negri A, Sadun F, Karanjia R, Salomao SR, Berezovsky A, Chicani F, Moraes M, Moraes Filho M, Belfort R Jr, Sadun AA.

Brain. 2016 Mar;139(Pt 3):e17. doi: 10.1093/brain/awv339. Epub 2015 Dec 10. No abstract available.

32.

Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy.

Balducci N, Savini G, Cascavilla ML, La Morgia C, Triolo G, Giglio R, Carbonelli M, Parisi V, Sadun AA, Bandello F, Carelli V, Barboni P.

Br J Ophthalmol. 2016 Sep;100(9):1232-7. doi: 10.1136/bjophthalmol-2015-307326. Epub 2015 Nov 27.

PMID:
26614631
33.

Melanopsin retinal ganglion cell loss in Alzheimer disease.

La Morgia C, Ross-Cisneros FN, Koronyo Y, Hannibal J, Gallassi R, Cantalupo G, Sambati L, Pan BX, Tozer KR, Barboni P, Provini F, Avanzini P, Carbonelli M, Pelosi A, Chui H, Liguori R, Baruzzi A, Koronyo-Hamaoui M, Sadun AA, Carelli V.

Ann Neurol. 2016 Jan;79(1):90-109. doi: 10.1002/ana.24548. Epub 2015 Dec 18.

34.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.

Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.

35.

Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.

Carbonelli M, La Morgia C, Savini G, Cascavilla ML, Borrelli E, Chicani F, do V F Ramos C, Salomao SR, Parisi V, Sebag J, Bandello F, Sadun AA, Carelli V, Barboni P.

PLoS One. 2015 Jun 5;10(6):e0127906. doi: 10.1371/journal.pone.0127906. eCollection 2015.

36.

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A, Zeviani M.

Ann Neurol. 2015 Jul;78(1):21-38. doi: 10.1002/ana.24410. Epub 2015 Jun 10.

37.

A restless abdomen and propriospinal myoclonus like at sleep onset: an unusual overlap syndrome.

Baiardi S, La Morgia C, Mondini S, Cirignotta F.

BMJ Case Rep. 2015 Mar 27;2015. pii: bcr2014206679. doi: 10.1136/bcr-2014-206679.

38.

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies.

Manners DN, Rizzo G, La Morgia C, Tonon C, Testa C, Barboni P, Malucelli E, Valentino ML, Caporali L, Strobbe D, Carelli V, Lodi R.

AJNR Am J Neuroradiol. 2015 Jul;36(7):1259-65. doi: 10.3174/ajnr.A4272. Epub 2015 Mar 19.

39.

Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathy.

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

Graefes Arch Clin Exp Ophthalmol. 2015 Sep;253(9):1591-600. doi: 10.1007/s00417-015-2979-1. Epub 2015 Mar 17.

PMID:
25773998
40.

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

Santarelli R, Rossi R, Scimemi P, Cama E, Valentino ML, La Morgia C, Caporali L, Liguori R, Magnavita V, Monteleone A, Biscaro A, Arslan E, Carelli V.

Brain. 2015 Mar;138(Pt 3):563-76. doi: 10.1093/brain/awu378. Epub 2015 Jan 5.

41.

Genetic Basis of Mitochondrial Optic Neuropathies.

Maresca A, Caporali L, Strobbe D, Zanna C, Malavolta D, La Morgia C, Valentino ML, Carelli V.

Curr Mol Med. 2014;14(8):985-992. doi: 10.2174/1566524014666141010132627.

PMID:
25323873
42.

'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.

43.

Medical management of hereditary optic neuropathies.

La Morgia C, Carbonelli M, Barboni P, Sadun AA, Carelli V.

Front Neurol. 2014 Jul 31;5:141. doi: 10.3389/fneur.2014.00141. eCollection 2014. Review.

44.

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.

Barboni P, Savini G, Cascavilla ML, Caporali L, Milesi J, Borrelli E, La Morgia C, Valentino ML, Triolo G, Lembo A, Carta A, De Negri A, Sadun F, Rizzo G, Parisi V, Pierro L, Bianchi Marzoli S, Zeviani M, Sadun AA, Bandello F, Carelli V.

Am J Ophthalmol. 2014 Sep;158(3):628-36.e3. doi: 10.1016/j.ajo.2014.05.034. Epub 2014 Jun 5.

PMID:
24907432
45.

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

La Morgia C, Caporali L, Gandini F, Olivieri A, Toni F, Nassetti S, Brunetto D, Stipa C, Scaduto C, Parmeggiani A, Tonon C, Lodi R, Torroni A, Carelli V.

BMC Neurol. 2014 May 28;14:116. doi: 10.1186/1471-2377-14-116.

46.

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.

Carossa V, Ghelli A, Tropeano CV, Valentino ML, Iommarini L, Maresca A, Caporali L, La Morgia C, Liguori R, Barboni P, Carbonelli M, Rizzo G, Tonon C, Lodi R, Martinuzzi A, De Nardo V, Rugolo M, Ferretti L, Gandini F, Pala M, Achilli A, Olivieri A, Torroni A, Carelli V.

Hum Mutat. 2014 Aug;35(8):954-8. doi: 10.1002/humu.22596. Epub 2014 Jun 28.

PMID:
24863938
47.

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G.

Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10.

PMID:
24727570
48.

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

Moghadam KK, Pizza F, Tonon C, Lodi R, Carelli V, Poli F, Franceschini C, Barboni P, Seri M, Ferrari S, La Morgia C, Testa C, Cornelio F, Liguori R, Winkelmann J, Lin L, Mignot E, Plazzi G.

Sleep Med. 2014 May;15(5):582-5. doi: 10.1016/j.sleep.2013.09.028. Epub 2014 Feb 12.

PMID:
24709307
49.

Nocturnal melatonin regulation in post-traumatic vegetative state: a possible role for melatonin supplementation?

Guaraldi P, Sancisi E, La Morgia C, Calandra-Buonaura G, Carelli V, Cameli O, Battistini A, Cortelli P, Piperno R.

Chronobiol Int. 2014 Jun;31(5):741-5. doi: 10.3109/07420528.2014.901972. Epub 2014 Mar 28.

PMID:
24679225
50.

Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy.

Ziccardi L, Sadun F, De Negri AM, Barboni P, Savini G, Borrelli E, La Morgia C, Carelli V, Parisi V.

Invest Ophthalmol Vis Sci. 2013 Oct 21;54(10):6893-901. doi: 10.1167/iovs.13-12894.

PMID:
24071953

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