Works matching DE "LEBER'S hereditary optic atrophy"

Results: 338

Predicting optic atrophy in patients with anterior uveitis by computed tomography-based assessment of optic nerve diameter.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2023, n. 3, p. 38

By:

Venger, L. V.;
Kovtun, O. V.;
Savko, V. V.

Publication type:

Article

Early signs of primary compressive optic atrophy evidenced by OCT in patients with basal brain tumors.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2020, n. 1, p. 35, doi. 10.31288/oftalmolzh202013539

By:

Iegorova, K. S.;
Znamenska, M. A.;
Guk, M. O.;
Mumliev, A. O.

Publication type:

Article

Study of etiologic factors for optic atrophy.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2019, n. 2, p. 44, doi. 10.31288/oftalmolzh201924449

By:

Vasyuta, V. A.;
Pedachenko, Yu. E.

Publication type:

Article

Mitoguardin2 Is Associated With Hyperandrogenism and Regulates Steroidogenesis in Human Ovarian Granulosa Cells.

Published in:

Journal of the Endocrine Society, 2023, v. 7, n. 5, p. 1, doi. 10.1210/jendso/bvad034

By:

Yan, Ming-Qi;
Wang, Yong;
Wang, Zhao;
Liu, Xiao-Hong;
Yang, Yu-Meng;
Duan, Xiu-Yun;
Sun, Hui;
Liu, Xiao-Man

Publication type:

Article

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 1, p. 68, doi. 10.3390/jcm8010068

By:

Jou, Cristina;
Ortigoza-Escobar, Juan D.;
O'Callaghan, Maria M.;
Nascimento, Andres;
Darling, Alejandra;
Pias-Peleteiro, Leticia;
Perez-Dueñas, Belén;
Pineda, Mercedes;
Codina, Anna;
Arjona, César;
Armstrong, Judith;
Palau, Francesc;
Ribes, Antonia;
Gort, Laura;
Tort, Frederic;
Navas, Placido;
Ruiz-Pesini, Eduardo;
Emperador, Sonia;
Lopez-Gallardo, Ester;
Bayona-Bafaluy, Pilar

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

Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNA<sup>Thr</sup> Gene.

Published in:

Journal of Diabetes Research, 2020, p. 1, doi. 10.1155/2020/2057187

By:

Li, Ke;
Wu, Lijun;
Liu, Jianjiang;
Lin, Wei;
Qi, Qiang;
Zhao, Tianlan

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

The non-syndromic clinical spectrums of mtDNA 3243A>G mutation.

Published in:

Neurosciences, 2021, v. 26, n. 2, p. 128, doi. 10.17712/nsj.2021.2.20200145

By:

Xiya Shen;
Du, Ailian

Publication type:

Article

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1292320

By:

Major, Toby Charles;
Arany, Eszter Sara;
Schon, Katherine;
Simo, Magdolna;
Karcagi, Veronika;
van den Ameele, Jelle;
Patrick Yu Wai Man;
Chinnery, Patrick F.;
Olimpio, Catarina;
Horvath, Rita

Publication type:

Article

Editorial: Biomarkers in the diagnosis, prognosis, and prediction of autoimmune and hereditary optic neuropathies.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1304227

By:

Chuan-bin Sun;
Xiaolai Zhou;
Hong Jiang;
Huanfen Zhou

Publication type:

Article

Editorial: Biomarkers in the diagnosis, prognosis, and prediction of autoimmune and hereditary optic neuropathies.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1304227

By:

Chuan-bin Sun;
Xiaolai Zhou;
Hong Jiang;
Huanfen Zhou

Publication type:

Article

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1239725

By:

Mahungu, Amokelani C.;
Steyn, Elizabeth;
Floudiotis, Niki;
Wilson, Lindsay A.;
Vandrovcova, Jana;
Reilly, Mary M.;
Record, Christopher J.;
Benatar, Michael;
Gang Wu;
Raga, Sharika;
Wilmshurst, Jo M.;
Naidu, Kireshnee;
Hanna, Michael;
Nel, Melissa;
Heckmann, Jeannine M.

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

OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia.

Published in:

European Neurology, 2012, v. 68, n. 2, p. 108, doi. 10.1159/000339310

By:

Ayrignac, X.;
Liauzun, C.;
Lenaers, G.;
Renard, D.;
Amati-Bonneau, P.;
de Sèze, J.;
Dollfus, H.;
Hamel, C.;
Bonneau, D.;
Labauge, P.

Publication type:

Article

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Published in:

BMC Research Notes, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13104-018-4025-y

By:

Bianco, Angelica;
Valletti, Alessio;
Longo, Giovanna;
Bisceglia, Luigi;
Montoya, Julio;
Emperador, Sonia;
Guerriero, Silvana;
Petruzzella, Vittoria

Publication type:

Article

A Select Subset of Electron Transport Chain Genes Associated with Optic Atrophy Link Mitochondria to Axon Regeneration in Caenorhabditis elegans.

Published in:

Frontiers in Human Neuroscience, 2017, p. 1, doi. 10.3389/fnins.2017.00263

By:

Knowlton, Wendy M.;
Hubert, Thomas;
Zilu Wu;
Chisholm, Andrew D.;
Yishi Jin

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

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

Published in:

Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354

By:

Abrams, Alexander J;
Ahmed, Zubair M;
Antonellis, Anthony;
Zimmerman, Holly H;
Abdul-Rahman, Omar A;
Yang, Yaping;
Downes, Susan M;
Fontanesi, Flavia;
Barrientos, Antonio;
Németh, Andrea H;
Hufnagel, Robert B;
Sund, Kristen L;
Wang, Xinjian;
Krueger, Laura A;
Peng, Yanyan;
Prada, Carlos E;
Prows, Cynthia A;
Schorry, Elizabeth K;
Huang, Taosheng;
Rebelo, Adriana

Publication type:

Article

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Published in:

Nature Genetics, 2012, v. 44, n. 9, p. 975, doi. 10.1038/ng.2357

By:

Perrault, Isabelle;
Hanein, Sylvain;
Zanlonghi, Xavier;
Serre, Valérie;
Nicouleau, Michael;
Defoort-Delhemmes, Sabine;
Delphin, Nathalie;
Fares-Taie, Lucas;
Gerber, Sylvie;
Xerri, Olivia;
Edelson, Catherine;
Goldenberg, Alice;
Duncombe, Alice;
Le Meur, Gylène;
Hamel, Christian;
Silva, Eduardo;
Nitschke, Patrick;
Calvas, Patrick;
Munnich, Arnold;
Roche, Olivier

Publication type:

Article

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS.

Published in:

Fetal & Pediatric Pathology, 2018, v. 37, n. 6, p. 404, doi. 10.1080/15513815.2018.1509406

By:

Li, Xin;
Cheng, Qing;
Li, Niu;
Chang, Guoying;
Ding, Yu;
Li, Juan;
Shen, Yiping;
Wang, Jian;
Wang, Xiumin

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

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

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

Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.

Published in:

2019

By:

Kuleva, Marina;
Ben Miled, Selima;
Steffann, Julie;
Rondeau, Sophie;
Ville, Yves;
Munnich, Arnold;
Salomon, Laurent J

Publication type:

Letter

Re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.

Published in:

2019

By:

Finsterer, Josef

Publication type:

Letter

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

Kearns–Sayre syndrome: Two case reports and a review for the primary care physician.

Published in:

2023

By:

Richmond, Chad;
Powell, Leonard;
Brittingham, Zachary D.;
Mancuso, Alison

Publication type:

Case Study

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 diseases mimicking NMOSD.

Published in:

Multiple Sclerosis Journal, 2023, v. 29, n. 7, p. 897, doi. 10.1177/13524585231172944

By:

Juryńczyk, Maciej

Publication type:

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

Commentary: Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations.

Published in:

Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.00973

By:

Finsterer, Josef

Publication type:

Article

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.

Published in:

International Medical Case Reports Journal, 2020, v. 13, p. 41, doi. 10.2147/IMCRJ.S237620

By:

Guerriero, Silvana;
D'Oria, Francesco;
Rossetti, Giacomo;
Favale, Rosa Anna;
Zoccolella, Stefano;
Alessio, Giovanni;
Petruzzella, Vittoria

Publication type:

Article

Profiling the Mitochondrial Proteome of Leber’s Hereditary Optic Neuropathy (LHON) in Thailand: Down-Regulation of Bioenergetics and Mitochondrial Protein Quality Control Pathways in Fibroblasts with the 11778G>A Mutation.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106779

By:

Tun, Aung Win;
Chaiyarit, Sakdithep;
Kaewsutthi, Supannee;
Katanyoo, Wanphen;
Chuenkongkaew, Wanicha;
Kuwano, Masayoshi;
Tomonaga, Takeshi;
Peerapittayamongkol, Chayanon;
Thongboonkerd, Visith;
Lertrit, Patcharee

Publication type:

Article

BICAR: A New Algorithm for Multiresolution Spatiotemporal Data Fusion.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050268

By:

Brown, Kevin S.;
Grafton, Scott T.;
Carlson, Jean M.

Publication type:

Article

Is Mitochondrial tRNA<sup>phe</sup> Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?

Published in:

PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026511

By:

A-Mei Zhang;
Hans-Jürgen Bandelt;
Xiaoyun Jia;
Wen Zhang;
Shiqiang Li;
Dandan Yu;
Dong Wang;
Xin-Ying Zhuang;
Qingjiong Zhang;
Yong-Gang Yao

Publication type:

Article

Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021347

By:

Bergen, Nicole J. Van;
Crowston, Jonathan G.;
Kearns, Lisa S.;
Staffieri, Sandra E.;
Hewitt, Alex W.;
Cohn, Amy C.;
Mackey, David A.;
Trounce, Ian A.

Publication type:

Article

Extra-Visual Functional and Structural Connection Abnormalities in Leber's Hereditary Optic Neuropathy.

Published in:

PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017081

By:

Rocca, Maria A.;
Valsasina, Paola;
Pagani, Elisabetta;
Bianchi-Marzoli, Stefania;
Milesi, Jacopo;
Falini, Andrea;
Comi, Giancarlo;
Filippi, Massimo

Publication type:

Article

Genotipo ir fenotipo sąsajos, sergant paveldima Lėberio optine neuropatija.

Published in:

Neurologijos Seminarai, 2020, v. 24, n. 3, p. 182, doi. 10.29014/ns.2020.25

By:

Matukynaitė, L.;
Liutkevičienė, R.;
Gelžinis, A.;
Žemaitienė, R.

Publication type:

Article

SPOAN syndrome: a novel mutation and new ocular findings; a case report.

Published in:

2021

By:

Bazvand, Fatemeh;
Keramatipour, Mohammad;
Riazi-Esfahani, Hamid;
Mahmoudi, Alireza

Publication type:

journal article

The effect of somatic mutations in mitochondrial DNA on the survival of patients with primary brain tumors.

Published in:

Croatian Medical Journal, 2024, v. 65, n. 2, p. 111, doi. 10.3325/cmj.2024.65.111

By:

Mohd Khair, Siti Zulaikha Nashwa;
Ab Radzak, Siti Muslihah;
Idris, Zamzuri;
Zin, Anani Aila Mat;
Wan Ahmad, Wan Muhamad Amir;
Mohamed Yusoff, Abdul Aziz

Publication type:

Article