Works matching Leber's hereditary optic atrophy

Results: 365

Terapia genética de injeção intravítrea de rAAV2-ND4 para neuropatia óptica hereditária de Leber: uma revisão sistemática.

Published in:

Revista Brasileira de Oftalmologia, 2023, v. 82, p. 1, doi. 10.37039/1982.8551.20230041

By:

de Oliveira e Silva, Vanessa;
de Siqueira Mendes, Joana Karollyne;
de Barros Filho, Valter Augusto;
de Souza Maximino, Michel;
de Luna Freire Medeiros, Lucas Marinho;
Pereira da Silva Júnior, Antônio Humberto

Publication type:

Article

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.

Published in:

2021

By:

Rabenstein, Andrea;
Catarino, Claudia B.;
Rampeltshammer, Verena;
Schindler, David;
Gallenmüller, Constanze;
Priglinger, Claudia;
Pogarell, Oliver;
Rüther, Tobias;
Klopstock, Thomas

Publication type:

journal article

A case for the use of chemotherapy in hereditary mitochondrial optic neuropathies: Successful administration of cisplatin/etoposide in a male patient with testicular seminoma and Leber's hereditary optic neuropathy.

Published in:

2024

By:

Vrisakis, Jean‐Luc;
Fraser, Clare L.;
Shahnam, Adel;
Nindra, Udit;
Grimison, Peter

Publication type:

Case Study

Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy.

Published in:

Current Eye Research, 2019, v. 44, n. 6, p. 638, doi. 10.1080/02713683.2019.1567792

By:

Asanad, Samuel;
Tian, Jack J.;
Frousiakis, Starleen;
Jiang, Jerry P.;
Kogachi, Kaitlin;
Felix, Christian M.;
Fatemeh, Darvizeh;
Irvine, Anne Gority;
Ter-Zakarian, Anna;
Falavarjani, Khalil Ghasemi;
Barboni, Piero;
Karanjia, Rustum;
Sadun, Alfredo A.

Publication type:

Article

Vzácná příčina slepoty u pacienta s nosní polypózou Leberova hereditární neuropatie zrakového nervu.

Published in:

Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2011, v. 60, n. 3, p. 169

By:

Bruthansová, P.;
Vokurka, J.;
Diblík, P.;
Dočekalová, D.;
Rozsypalová, E.;
Zeman, J.;
Plzák, J.

Publication type:

Article

Medical management of hereditary optic neuropathies.

Published in:

Frontiers in Neurology, 2014, v. 5, p. 1, doi. 10.3389/fneur.2014.00141

By:

La Morgia, Chiara;
Carbonelli, Michele;
Barboni, Piero;
Sadun, Alfredo Arrigo;
Carelli, Valerio;
Milea, Dan;
Dotan, Shlomo

Publication type:

Article

Identification of the characteristic visual field loss patterns in optic neuropathies.

Published in:

2024

By:

Barboni, Piero

Publication type:

Abstract

Herediter Optik Nöropatiler.

Published in:

Current Retina Journal / Güncel Retina Dergisi, 2025, v. 9, n. 1, p. 81, doi. 10.37783/CRJ-0440

By:

BİNGÖL KIZILTUNÇ, Pınar

Publication type:

Article

Demielinizacyjna czy dziedziczna neuropatia nerwu wzrokowego? Porównanie wybranych jednostek chorobowych.

Published in:

Current Neurology / Aktualno?ci Neurologiczne, 2020, v. 20, n. 2, p. 82, doi. 10.15557/AN.2020.0011

By:

Rościszewska-Żukowska, Iwona;
Bartosik-Psujek, Halina

Publication type:

Article

Opa1 and MT-Nd6 mutations induce early mitochondrial changes in the retina and prelaminar optic nerve of hereditary optic neuropathy mouse models.

Published in:

Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae404

By:

Bureau, Jacques;
Manero, Florence;
Baris, Olivier;
Bodin, Alexia;
Verny, Christophe;
Chevrollier, Arnaud;
Lenaers, Guy;
Codron, Philippe

Publication type:

Article

Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume.

Published in:

Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01768-1

By:

Bocca, Cinzia;
Kouassi-Nzoughet, Judith;
Chao de la Barca, Juan Manuel;
Bonneau, Dominique;
Verny, Christophe;
Gohier, Philippe;
Orssaud, Christophe;
Reynier, Pascal

Publication type:

Article

Treatment paradigms for mitochondrial optic neuropathies.

Published in:

Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8043

By:

La Morgia, Chiara

Publication type:

Article

Functional MRI study in a case of Charles Bonnet syndrome related to LHON.

Published in:

2019

By:

Vacchiano, V.;
Tonon, C.;
Mitolo, M.;
Evangelisti, S.;
Carbonelli, M.;
Liguori, R.;
Lodi, R.;
Carelli, V.;
La Morgia, C.

Publication type:

journal article

Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy.

Published in:

Documenta Ophthalmologica, 2024, v. 148, n. 3, p. 133, doi. 10.1007/s10633-024-09968-9

By:

Barboni, Mirella T. S.;
Sustar Habjan, Maja;
Petrovic Pajic, Sanja;
Hawlina, Marko

Publication type:

Article

Bilateral vision loss due to Leber’s hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse.

Published in:

2018

By:

Maass, Johanna;
Matthé, Egbert

Publication type:

Case Study

Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with acute Leber's hereditary optic neuropathy.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 1, p. 261, doi. 10.1007/s00417-023-06205-y

By:

Borrelli, Enrico;
Cascavilla, Maria Lucia;
Lari, Giorgio;
De Negri, Anna Maria;
Battista, Marco;
Galzignato, Alice;
Coutinho, Catarina;
Berni, Alessandro;
Barresi, Costanza;
Ricciotti, Guido;
Bandello, Francesco;
Barboni, Piero

Publication type:

Article

Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2020, v. 258, n. 10, p. 2283, doi. 10.1007/s00417-020-04757-x

By:

Ahn, Ye Jin;
Park, Yooyeon;
Shin, Sun Young;
Chae, Hyojin;
Kim, Myungshin;
Park, Shin Hae

Publication type:

Article

Peripapillary and macular morpho-vascular changes in patients with genetic or clinical diagnosis of autosomal dominant optic atrophy: a case-control study.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 5, p. 1019, doi. 10.1007/s00417-019-04267-5

By:

Martins, Amélia;
Rodrigues, Tiago M.;
Soares, Mário;
Dolan, Michael-John;
Murta, Joaquim N.;
Silva, Rufino;
Marques, João P.

Publication type:

Article

Before an abducens palsy can be attributed to a congenital vitamin-B12 deficiency, alternative causes must be ruled out.

Published in:

Child's Nervous System, 2023, v. 39, n. 9, p. 2269, doi. 10.1007/s00381-023-06079-9

By:

Finsterer, Josef

Publication type:

Article

Maternally Inherited Diabetes and Deafness (MIDD) – Atypical Clinical Diabetes Features Leading to the Diagnosis.

Published in:

JCEM Case Reports, 2023, v. 1, n. 3, p. 1, doi. 10.1210/jcemcr/luad047

By:

Kyriakidou, Anna;
Hadjivassiliou, Marilena;
Papapostolou, Anastasia;
Picolos, Michalis K

Publication type:

Article

Mitochondrial DNA copy number is not associated with fatigue status in Primary Sjögren's Syndrome.

Published in:

Fatigue: Biomedicine, Health & Behavior, 2018, v. 6, n. 3, p. 123, doi. 10.1080/21641846.2018.1486799

By:

De Menezes, Eliane C. Soares;
Brown, Audrey E.;
Bowman, Simon J.;
Mirza, Kamran;
Newton, Julia L.;
Wan-Fai Ng;
Elson, Joanna L.

Publication type:

Article

Widespread Reductions of Spontaneous Neurophysiological Activity in Leber's Disease—An Application of EEG Source Current Density Reconstruction.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 9, p. 622, doi. 10.3390/brainsci10090622

By:

Jonak, Kamil

Publication type:

Article

Factors Influencing Central Nervous System Abnormalities in m.11778G>A Carriers.

Published in:

2020

By:

Finsterer, Josef

Publication type:

Letter

Mitochondrial genome-wide association study of migraine - the HUNT Study.

Published in:

2020

By:

Børte, Sigrid;
Zwart, John-Anker;
Skogholt, Anne Heidi;
Gabrielsen, Maiken Elvestad;
Thomas, Laurent F;
Fritsche, Lars G;
Surakka, Ida;
Nielsen, Jonas B;
Zhou, Wei;
Wolford, Brooke N;
Vigeland, Magnus D;
Hagen, Knut;
Kristoffersen, Espen Saxhaug;
Nyholt, Dale R;
Chasman, Daniel I;
Brumpton, Ben M;
Willer, Cristen J;
Winsvold, Bendik S

Publication type:

journal article

Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.864445

By:

Riquin, Elise;
Barth, Magalie;
Le Nerzé, Thomas;
Pasquini, Natwin;
Prouteau, Clement;
Colin, Estelle;
Amati Bonneau, Patrizia;
Procaccio, Vincent;
Van Bogaert, Patrick;
Duverger, Philippe;
Bonneau, Dominique;
Roy, Arnaud

Publication type:

Article

Assessment of the Idebenone Effect on LHON Eyes Requires High-quality Studies.

Published in:

Current Eye Research, 2020, v. 45, n. 11, p. 1451, doi. 10.1080/02713683.2020.1748660

By:

Finsterer, Josef

Publication type:

Article

Anticancer effect of a pyrrole‐imidazole polyamide‐triphenylphosphonium conjugate selectively targeting a common mitochondrial DNA cancer risk variant in cervical cancer cells.

Published in:

International Journal of Cancer, 2023, v. 152, n. 5, p. 962, doi. 10.1002/ijc.34319

By:

Yao, Jihang;
Takenaga, Keizo;
Koshikawa, Nobuko;
Kida, Yuki;
Lin, Jason;
Watanabe, Takayoshi;
Maru, Yoshiaki;
Hippo, Yoshitaka;
Yamamoto, Seigi;
Zhu, Yuyan;
Nagase, Hiroki

Publication type:

Article

Leigh syndrome: a case report with a mitochondrial DNA mutation.

Published in:

Revista Paulista de Pediatria, 2019, v. 37, n. 1, p. 136

By:

Bandeira, Anabela Oliveira

Publication type:

Article

Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy.

Published in:

Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 1, p. 37, doi. 10.1016/j.ejmhg.2012.08.002

By:

Al-Ettribi, Ghada M. M.;
Effat, Laila K.;
El-Bassyouni, Hala T.;
Zaki, Maha S.;
Shanab, Gamila;
Karim, Amr M.

Publication type:

Article

Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.

Published in:

Frontiers in Neuroscience, 2019, p. 1, doi. 10.3389/fnins.2019.00894

By:

González-Casacuberta, Ingrid;
Juárez-Flores, Diana Luz;
Morén, Constanza;
Garrabou, Gloria

Publication type:

Article

Correlation of Average Retinal Nerve Fiber Layer Thickness Using OCT with The Perimetric Staging in Primary Open Angle Glaucoma.

Published in:

Egyptian Journal of Hospital Medicine, 2018, v. 71, n. 3, p. 2770, doi. 10.12816/0045842

By:

Hosny Hassan Mohammad;
Abd Elghany Ibrahim Abd Elghany;
Ibrahim Mohamed Ibrahim El Karmout

Publication type:

Article

A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity.

Published in:

Journal of Neuroscience, 2019, v. 39, n. 29, p. 5816, doi. 10.1523/jneurosci.2541-18.2019

By:

Mengqiao Cui;
Rong Ying;
Xue Jiang;
Gang Li;
Xuanjun Zhang;
Jun Zheng;
Kin Yip Tam;
Bin Liang;
Anbing Shi;
Göbel, Verena;
Hongjie Zhang

Publication type:

Article

Authors' response.

Published in:

Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 430, doi. 10.4103/0971-5916.305172

By:

Danda, S;
Thomas, B;
Paramshivam, G;
Thomas, Raji;
Mathew, John;
Danda, D

Publication type:

Article

Unmasking fibromyalgia as a mitochondrial disorder requires search for more than a single variant or single mtDNA deletions.

Published in:

Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 429, doi. 10.4103/ijmr.IJMR_1039_19

By:

Finsterer, Josef

Publication type:

Article

Textbook of microbiology: An integrated and clinical case based approach.

Published in:

Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 437, doi. 10.4103/ijmr.IJMR_1337_19

By:

Jain, Amita

Publication type:

Article

Obituary.

Published in:

Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 434, doi. 10.4103/ijmr.IJMR_4320_20

By:

Kant, Lalit

Publication type:

Article

Mitochondrial DNA in osteoarthritis disease.

Published in:

2020

By:

Blanco, Francisco J.;
Rego-Pérez, Ignacio

Publication type:

Editorial

Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber's hereditary optic neuropathy.

Published in:

Biochemistry (00062979), 2016, v. 81, n. 7, p. 748, doi. 10.1134/S0006297916070117

By:

Sheremet, N.;
Nevinitsyna, T.;
Zhorzholadze, N.;
Ronzina, I.;
Itkis, Y.;
Krylova, T.;
Tsygankova, P.;
Malakhova, V.;
Zakharova, E.;
Tokarchuk, A.;
Panteleeva, A.;
Karger, E.;
Lyamzaev, K.;
Avetisov, S.

Publication type:

Article

Mitochondrial DNA mutations and the risk for aminoglycoside-induced deafness.

Published in:

Macedonian Pharmaceutical Bulletin / Makedonsko Farmacevtski Bilten, 2022, v. 68, p. 411, doi. 10.33320/maced.pharm.bull.2022.68.03.198

By:

Shukarova Stefanovska, Emilija;
Davceva Chakar, Marina;
Bozhinovski, Gjorgji

Publication type:

Article

Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 825, doi. 10.1002/acn3.51327

By:

Scott Binder, M.;
Roda, Ricardo H.;
Corse, Andrea M.;
Sidhu, Sunjeet;
Stewart, Sarah;
Barth, Andreas S.

Publication type:

Article

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 247, doi. 10.1002/acn3.51232

By:

Nardecchia, Francesca;
De Giorgi, Agnese;
Palombo, Flavia;
Fiorini, Claudio;
De Negri, Anna M.;
Carelli, Valerio;
Caporali, Leonardo;
Leuzzi, Vincenzo

Publication type:

Article

Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1090, doi. 10.1002/acn3.50797

By:

Hsu, Yun‐Hsin;
Lin, Kon‐Ping;
Guo, Yuh‐Cherng;
Tsai, Yu‐Shuen;
Liao, Yi‐Chu;
Lee, Yi‐Chung

Publication type:

Article

A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 2, p. 401, doi. 10.1002/acn3.701

By:

Feng, Shu‐Yan;
Li, Liu‐Yi;
Feng, Shu‐Man;
Zou, Zhang‐Yu

Publication type:

Article

Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 6, p. 408, doi. 10.1002/acn3.305

By:

Millet, Aurélie M. C.;
Bertholet, Ambre M.;
Daloyau, Marlène;
Reynier, Pascal;
Galinier, Anne;
Devin, Anne;
Wissinguer, Bernd;
Belenguer, Pascale;
Davezac, Noélie

Publication type:

Article

Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors.

Published in:

Frontiers in Oncology, 2020, v. 11, p. N.PAG, doi. 10.3389/fonc.2020.572954

By:

Pérez-Amado, Carlos Jhovani;
Tovar, Hugo;
Gómez-Romero, Laura;
Beltrán-Anaya, Fredy Omar;
Bautista-Piña, Verónica;
Dominguez-Reyes, Carlos;
Villegas-Carlos, Felipe;
Tenorio-Torres, Alberto;
Alfaro-Ruíz, Luis Alberto;
Hidalgo-Miranda, Alfredo;
Jiménez-Morales, Silvia

Publication type:

Article

Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.

Published in:

2023

By:

Alexopoulos, Palaiologos;
Symeonidis, Chrysanthos;
Rotsos, Tryfon

Publication type:

Case Study

Photobiomodulation Using Light-Emitting Diode (LED) for Treatment of Retinal Diseases.

Published in:

Clinical Ophthalmology, 2024, v. 18, p. 215, doi. 10.2147/OPTH.S441962

By:

Siqueira, Rubens Camargo

Publication type:

Article

Leber's hereditary optic neuropathy is multiorgan not mono-organ.

Published in:

Clinical Ophthalmology, 2016, v. 10, p. 2187, doi. 10.2147/OPTH.S120197

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Article

Leber hereditary optic neuropathy: current perspectives.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 1165, doi. 10.2147/OPTH.S62021

By:

Meyerson, Cherise;
Van Stavern, Greg;
McClelland, Collin

Publication type:

Article

Pathogenic Heteroplasmic Somatic Mitochondrial DNA Mutation Confers Platinum-Resistance and Recurrence of High-Grade Serous Ovarian Cancer.

Published in:

Cancer Management & Research, 2020, v. 12, p. 11085, doi. 10.2147/CMAR.S277724

By:

Ni, Jing;
Wang, Yan;
Cheng, Xianzhong;
Teng, Fang;
Wang, Congyang;
Han, Suping;
Chen, Xiaoxiang;
Guo, Wenwen

Publication type:

Article