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Items: 1 to 20 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.

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

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, Lagr├Ęze 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

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