Works matching Leber's hereditary optic atrophy

Results: 376

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

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

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

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

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

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

Published in:

2024

By:

Barboni, Piero

Publication type:

Abstract

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

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

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

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

Mitochondrial dysfunction and drug targets in multiple myeloma.

Published in:

Journal of Cancer Research & Clinical Oncology, 2023, v. 149, n. 10, p. 8007, doi. 10.1007/s00432-023-04672-8

By:

Cui, Yushan;
Wang, Fujue;
Fang, Baijun

Publication type:

Article

Mitochondrial DNA analysis efficiently contributes to the identification of metastatic contralateral breast cancers.

Published in:

Journal of Cancer Research & Clinical Oncology, 2021, v. 147, n. 2, p. 507, doi. 10.1007/s00432-020-03459-5

By:

Girolimetti, Giulia;
Marchio, Lorena;
De Leo, Antonio;
Mangiarelli, Miriam;
Amato, Laura Benedetta;
Zanotti, Simone;
Taffurelli, Mario;
Santini, Donatella;
Gasparre, Giuseppe;
Ceccarelli, Claudio

Publication type:

Article

The Power of MLPA-NGS Coexistence in the Management of Charcot Marie Tooth Patients.

Published in:

Gazi Medical Journal, 2024, v. 35, p. 44

By:

Göktaş, Emine;
Somuncu, Makbule Nihan;
Zamani, Ayşe Gül;
Yıldırım, Mahmut Selman

Publication type:

Article

White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up.

Published in:

Ophthalmologica, 2016, v. 235, n. 1, p. 49, doi. 10.1159/000441089

By:

Jančić, Jasna;
Dejanović, Ivana;
Radovanović, Saša;
Ostojić, Jelena;
Kozić, Duško;
Đurić-Jovičić, Milica;
Samardžić, Janko;
Ćetković, Mila;
Kostić, Vladimir

Publication type:

Article

Circulating cell-free mtDNA as a new biomarker for cancer detection and management.

Published in:

Cancer Biology & Medicine, 2024, v. 21, n. 2, p. 105, doi. 10.20892/j.issn.2095-3941.2023.0280

By:

Fan Peng;
Siyuan Wang;
Zehui Feng;
Kaixiang Zhou;
Huanqin Zhang;
Xu Guo;
Jinliang Xing;
Yang Liu

Publication type:

Article

A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep06936

By:

Liping Zhang;
Wei Shi;
Liming Song;
Xiao Zhang;
Lulu Cheng;
Yanfang Wang;
Xianglian Ge;
Wei Li;
Wei Zhang;
Qingjie Min;
Zi-Bing Jin;
Jia Qu;
Feng Gu

Publication type:

Article

Extracellular Vesicles and Resistance to Anticancer Drugs: A Tumor Skeleton Key for Unhinging Chemotherapies.

Published in:

Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.933675

By:

Pompili, Simona;
Vetuschi, Antonella;
Sferra, Roberta;
Cappariello, Alfredo

Publication type:

Article

4,977‐bp human mitochondrial DNA deletion is associated with asthenozoospermic infertility in Jordan.

Published in:

Andrologia, 2020, v. 52, n. 1, p. N.PAG, doi. 10.1111/and.13379

By:

Al Zoubi, Mazhar S.;
Al‐Batayneh, Khalid;
Alsmadi, Mohammad;
Rashed, Mitri;
Al‐Trad, Bahaa;
Al Khateeb, Wesam;
Aljabali, Alaa;
Otoum, Osama;
Al‐Talib, Mohammad;
Batiha, Osamah

Publication type:

Article

Detecting Optic Atrophy in Multiple Sclerosis Patients Using New Colorimetric Analysis Software: From Idea to Application.

Published in:

2016

By:

Bambo, Maria Pilar;
Garcia-Martin, Elena;
Perez-Olivan, Susana;
Larrosa-Povés, José Manuel;
Polo-Llorens, Vicente;
Gonzalez-De la Rosa, Manuel

Publication type:

journal article

Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells.

Published in:

Carcinogenesis, 2020, v. 41, n. 12, p. 1735, doi. 10.1093/carcin/bgaa032

By:

Haumann, Sophie;
Boix, Julia;
Knuever, Jana;
Bieling, Angela;
Sanjurjo, Anton Vila;
Elson, Joanna L;
Blakely, Emma L;
Taylor, Robert W;
Riet, Nicole;
Abken, Hinrich;
Kashkar, Hamid;
Hornig-Do, Hue-Tran;
Wiesner, Rudolf J

Publication type:

Article

Pre-diagnostic leukocyte mitochondrial DNA copy number and colorectal cancer risk.

Published in:

Carcinogenesis, 2019, v. 40, n. 12, p. 1462, doi. 10.1093/carcin/bgz159

By:

Yang, Keming;
Li, Xin;
Forman, Michele R;
Monahan, Patrick O;
Graham, Bret H;
Joshi, Amit;
Song, Mingyang;
Hang, Dong;
Ogino, Shuji;
Giovannucci, Edward L;
Vivo, Immaculata De;
Chan, Andrew T;
Nan, Hongmei

Publication type:

Article

Case Report: Abnormalities of sperm motility and morphology in a patient with Leber hereditary optic neuropathy: Improvement after idebenone therapy.

Published in:

2023

By:

Orssaud, Christophe;
Lange, Virginie Barraud;
Wolf, Jean Philippe;
LeFoll, Nathalie;
Soufir, Jean Claude

Publication type:

Case Study

The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature.

Published in:

2023

By:

Gunawardena, Kawmadi;
Dissanayake, Vajira H. W.;
Chang, Thashi

Publication type:

Case Study

3- 羟基异丁酰辅酶A 水解酶缺乏症一例诊治体会并文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2019, v. 20, n. 8, p. 647, doi. 10.7499/j.issn.1008-8830.2018.08.009

By:

杨海燕;
吴丽文 ;
邓小鹿 ;
尹飞 ;
杨丽芬

Publication type:

Article

Treatment for mitochondrial diseases.

Published in:

Reviews in the Neurosciences, 2021, v. 32, n. 1, p. 35, doi. 10.1515/revneuro-2020-0034

By:

Liufu, Tongling;
Wang, Zhaoxia

Publication type:

Article

Ocular manifestations of liver disease in children: Clinical aspects and implications.

Published in:

Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2020, v. 19, n. 6, p. 608, doi. 10.1016/j.aohep.2019.11.009

By:

Prasad, Durga;
Bhriguvanshi, Arpita

Publication type:

Article

Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.

Published in:

2018

By:

Leruez, Stéphanie;
Verny, Christophe;
Bonneau, Dominique;
Procaccio, Vincent;
Lenaers, Guy;
Amati-Bonneau, Patrizia;
Reynier, Pascal;
Scherer, Clarisse;
Prundean, Adriana;
Orssaud, Christophe;
Zanlonghi, Xavier;
Rougier, Marie-Bénédicte;
Tilikete, Caroline;
Miléa, Dan;
Leruez, Stéphanie;
Rougier, Marie-Bénédicte;
Miléa, Dan

Publication type:

journal article

Optic atrophy secondary to intracranial germinoma.

Published in:

QJM: An International Journal of Medicine, 2020, v. 113, n. 9, p. 676, doi. 10.1093/qjmed/hcaa091

By:

Lee, W -J A;
Lee, P -H;
Liao, I -C

Publication type:

Article

Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort.

Published in:

British Journal of Haematology, 2019, v. 187, n. 4, p. 530, doi. 10.1111/bjh.16100

By:

Fouquet, Cyrielle;
Le Rouzic, Marie‐Amelyne;
Leblanc, Thierry;
Fouyssac, Fanny;
Leverger, Guy;
Hessissen, Laila;
Marlin, Sandrine;
Bourrat, Emmanuelle;
Fahd, Mony;
Raffoux, Emmanuel;
Vannier, Jean‐Pierre;
Jäkel, Nadja;
Knoefler, Ralf;
Triolo, Valerie;
Pasquet, Marlene;
Bayart, Sophie;
Thuret, Isabelle;
Lutz, Patrick;
Vermylen, Christiane;
Touati, Mohamed

Publication type:

Article

A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application.

Published in:

Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05213-8

By:

Liang, Dong;
Zhu, Lin;
Zhu, Yuqing;
Huang, Mingtao;
Lin, Ying;
Li, Hang;
Hu, Ping;
Zhang, Jun;
Shen, Bin;
Xu, Zhengfeng

Publication type:

Article

Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer.

Published in:

Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04534-4

By:

Li, Yanni;
Sundquist, Kristina;
Vats, Sakshi;
Hong, Mun-Gwan;
Wang, Xiao;
Chen, Yilun;
Hedelius, Anna;
Saal, Lao H.;
Sundquist, Jan;
Memon, Ashfaque A.

Publication type:

Article

Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer.

Published in:

Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04534-4

By:

Li, Yanni;
Sundquist, Kristina;
Vats, Sakshi;
Hong, Mun-Gwan;
Wang, Xiao;
Chen, Yilun;
Hedelius, Anna;
Saal, Lao H.;
Sundquist, Jan;
Memon, Ashfaque A.

Publication type:

Article

Early diagnostic tools in hereditary amyloidosis related to transthyretin (hATTR) V30M autonomic neuropathy.

Published in:

2019

By:

de Campos, Catarina Falcão;
Conceição, Isabel;
Castro, Isabel de

Publication type:

Letter

A case of late‐onset Leber's hereditary optic neuropathy with elevated serum lactic acid and pyruvic acid levels by cycle ergometer exercise.

Published in:

Neurology & Clinical Neuroscience, 2018, v. 6, n. 6, p. 179, doi. 10.1111/ncn3.12219

By:

Hao, Akihito;
Hideyama, Takuto;
Katsumata, Junko;
Seki, Tomonari;
Tanaka, Masaki;
Yamagami, Akiko;
Shimizu, Jun;
Shiio, Yasushi

Publication type:

Article

Dystonia and Hereditary Motor Sensory Neuropathy 6B Due to SLC25A46 Gene Mutations.

Published in:

Movement Disorders Clinical Practice, 2021, v. 8, n. 3, p. 480, doi. 10.1002/mdc3.13139

By:

Raju, Srinivas;
Medarametla, Soumya;
Boraiah, Nataraju

Publication type:

Article

A Novel Missense OPA1 Mutation in a Patient with Dominant Optic Atrophy and Cervical Dystonia.

Published in:

Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 171, doi. 10.1002/mdc3.12699

By:

Ortega‐Suero, Gloria;
Fernández‐Matarrubia, Marta;
López‐Valdés, Eva;
Arpa, Javier

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

EVALUATION OF MITOCHONDRIAL DNA MUTATIONS IN SIX FAMILIES BY RESEQUENCING ARRAY.

Published in:

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2023, v. 86, n. 1, p. 78, doi. 10.26650/IUITFD.1164334

By:

KOLBAŞI DEMİRCİOĞLU, Guyem;
GÜNTEKİN ERGÜN, Sezen;
GÜCÜYENER, Kıvılcım;
PERÇİN, Ferda E.;
ERGÜN, Mehmet Ali

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

Next-generation sequencing technology in the diagnosis of mitochondrial disorders.

Published in:

Journal of Health Sciences (Qassim University), 2021, v. 15, n. 1, p. 1

By:

Ahmad, Rizwan;
Hasan, Mohammad Yusuf

Publication type:

Article

Senescent Cell Depletion Through Targeting BCL-Family Proteins and Mitochondria.

Published in:

Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.593630

By:

Fan, Ying;
Cheng, Jiaoqi;
Zeng, Huihong;
Shao, Lijian

Publication type:

Article

Integrating Ultra-Weak Photon Emission Analysis in Mitochondrial Research.

Published in:

Frontiers in Physiology, 2020, v. 11, p. 1, doi. 10.3389/fphys.2020.00717

By:

Van Wijk, Roeland;
Van Wijk, Eduard P.A.;
Pang, Jingxiang;
Yang, Meina;
Yan, Yu;
Han, Jinxiang

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