Works matching Mitochondrial diseases

Results: 5000

Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.

Published in:

2016

By:

Engelstad, Kristin;
Sklerov, Miriam;
Kriger, Joshua;
Sanford, Alexandra;
Grier, Johnston;
Ash, Daniel;
Egli, Dieter;
DiMauro, Salvatore;
Thompson, John L.P.;
Sauer, Mark V.;
Hirano, Michio

Publication type:

journal article

GFM1基因突变致儿童线粒体病一例并文献复习.

Published in:

Journal of International Reproductive Health/Family Planning, 2022, v. 41, n. 3, p. 199, doi. 10.12280/gjszjk.20210554

By:

戴小娟;
郑丽玲;
陈柔;
杨小云

Publication type:

Article

Utilización de las técnicas de reproducción asistida en la prevención de enfermedades mitocondriales.

Published in:

Universidad Médica Pinareña, 2021, v. 17, n. 2, p. 1

By:

de Jesús López-Catá, Felipe;
Sabourín-Divé, José;
Aguilar-Iraola, Idenia Juana

Publication type:

Article

A case-comparison study of pregnant women with mitochondrial disease - what to expect?

Published in:

2019

By:

Feeney, CL;
Lim, AZ;
Fagan, E;
Blain, A;
Bright, A;
Maddison, J;
Devine, H;
Stewart, J;
Taylor, RW;
Gorman, GS;
Turnbull, DM;
Nesbitt, V;
McFarland, R;
Feeney, C L;
Lim, A Z;
Taylor, R W;
Gorman, G S;
Turnbull, D M

Publication type:

journal article

Mitochondrial disease in New Zealand: a nationwide prevalence study.

Published in:

Internal Medicine Journal, 2024, v. 54, n. 3, p. 388, doi. 10.1111/imj.16211

By:

Missen, Sarah;
Wilson, Callum;
Potter, Howard;
Vincent, Andrea L.;
Murphy, Rinki;
Roxburgh, Richard;
Rodrigues, Miriam;
Poke, Gemma;
Robertson, Stephen P.;
Thorburn, David R.;
Glamuzina, Emma

Publication type:

Article

Choroby mitochondrialne, postęp w badaniu i leczeniu.

Published in:

Advances in Biochemistry / Postepy Biochemii, 2018, v. 64, n. 4, p. 300

By:

Tońska, Katarzyna;
Rusecka, Joanna;
Bartnik, Ewa

Publication type:

Article

Retinopati ile Birklikte Olan Mitokondriyal Hastalıklar.

Published in:

Current Retina Journal / Güncel Retina Dergisi, 2021, v. 5, n. 3, p. 256

By:

GÜLTEKİN IRGAT, Saadet

Publication type:

Article

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Published in:

Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 655, doi. 10.3390/biom10040655

By:

Palmieri, Ferdinando;
Scarcia, Pasquale;
Monné, Magnus

Publication type:

Article

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063

By:

Ticci, Chiara;
Orsucci, Daniele;
Ardissone, Anna;
Bello, Luca;
Bertini, Enrico;
Bonato, Irene;
Bruno, Claudio;
Carelli, Valerio;
Diodato, Daria;
Doccini, Stefano;
Donati, Maria Alice;
Dosi, Claudia;
Filosto, Massimiliano;
Fiorillo, Chiara;
La Morgia, Chiara;
Lamperti, Costanza;
Marchet, Silvia;
Martinelli, Diego;
Minetti, Carlo;
Moggio, Maurizio

Publication type:

Article

Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease.

Published in:

Journal of Sleep Research, 2024, v. 33, n. 6, p. 1, doi. 10.1111/jsr.14153

By:

Breuss, Alexander;
Strasser, Marco;
Nuoffer, Jean‐Marc;
Klein, Andrea;
Perret‐Hoigné, Eveline;
Felder, Christine;
Stauffer, Ruth;
Wolf, Peter;
Riener, Robert;
Gautschi, Matthias

Publication type:

Article

Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 3, p. 896, doi. 10.1093/brain/awae277

By:

Smeitink, Jan;
Es, Just van;
Bosman, Brigitte;
Janssen, Mirian C H;
Klopstock, Thomas;
Gorman, Grainne;
Vissing, John;
Ruiterkamp, Gerrit;
Edgar, Chris J;
Abbink, Evertine J;
Maanen, Rob van;
Pogoryelova, Oksana;
Stendel, Claudia;
Bischoff, Almut;
Karin, Ivan;
Munshi, Mahtab;
Kümmel, Anne;
Burgert, Lydia;
Verhaak, Christianne;
Renkema, Herma

Publication type:

Article

Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 1, p. 39, doi. 10.1093/brain/awae308

By:

Pizzamiglio, Chiara;
Stefanetti, Renae J;
McFarland, Robert;
Thomas, Naomi;
Ransley, George;
Hugerth, Matilda;
Grönberg, Alvar;
Serrano, Sonia Simon;
Elmér, Eskil;
Hanna, Michael G;
Hansson, Magnus J;
Gorman, Gráinne S;
Pitceathly, Robert D S

Publication type:

Article

线粒体DNA 8344A＞G突变导致线粒体遗传病的研究进展和防治策略.

Published in:

Journal of International Reproductive Health/Family Planning, 2023, v. 42, n. 6, p. 471, doi. 10.12280/gjszjk.20230358

By:

沈凌超;
王鑫;
纪冬梅

Publication type:

Article

生殖遗传技术预防线粒体遗传病的研究进展.

Published in:

Journal of International Reproductive Health/Family Planning, 2020, v. 39, n. 2, p. 153

By:

纪冬梅;
曹云霞

Publication type:

Article

Open-label pilot study using hydroxytyrosol as dietary supplements in patients with mitochondrial diseases.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03795-0

By:

Wong, Tsz Sum;
Man, Emily;
Wong, Ian Chi Kei;
Li, Shirley Xue;
Zhi, Hui;
Yeung, Ka Man Carmen;
Yip, Ka Yee;
Kwong, Anna Ka Yee;
Belaramani, Kiran Moti;
Wong, Suet Na;
Kwok, Anne Mei Kwun;
Mak, Miu;
Chan, Toby Chun Hei;
Lau, Pui Yee;
Kan, Yee Ling Elaine;
Wong, Kwok Chun;
Poon, Freddie;
Kwok, Vansie;
Li, Chun Yin Dick;
Lau, Paul

Publication type:

Article

Family misfortune caused by hereditary bias: a reflection on mitochondrial disease diagnosis in a family.

Published in:

2025

By:

Meng, Yan;
Wan, Lin;
Yang, Xi-Ying;
Han, Fang;
Zhang, Meng-Na;
He, Wen;
Shi, Xiu-Yu;
Yang, Guang;
Zou, Li-Ping;
Hu, Lin-Yan

Publication type:

Case Study

Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 3, p. 609, doi. 10.1007/s10815-022-02401-7

By:

Tang, Maoxing;
Boel, Annekatrien;
Castelluccio, Noemi;
Cardona Barberán, Arantxa;
Christodoulaki, Antonia;
Bekaert, Bieke;
Popovic, Mina;
Vanden Meerschaut, Frauke;
De Sutter, Petra;
Menten, Björn;
Symoens, Sofie;
Vanlander, Arnaud V.;
Stoop, Dominic;
Coucke, Paul J.;
Heindryckx, Björn

Publication type:

Article

Glutathione as a Redox Biomarker in Mitochondrial Disease--Implications for Therapy.

Published in:

Journal of Clinical Medicine, 2017, v. 6, n. 5, p. 50, doi. 10.3390/jcm6050050

By:

Enns, Gregory M.;
Cowan, Tina M.

Publication type:

Article

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 333, doi. 10.1002/acn3.532

By:

Pickett, Sarah J.;
Grady, John P.;
Ng, Yi Shiau;
Gorman, Gráinne S.;
Schaefer, Andrew M.;
Wilson, Ian J.;
Cordell, Heather J.;
Turnbull, Doug M.;
Taylor, Robert W.;
McFarland, Robert

Publication type:

Article

The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases.

Published in:

Journal of Lasers in Medical Sciences, 2023, v. 14, p. 1, doi. 10.34172/jlms.2023.41

By:

Baskerville, Richard;
Krijgsveld, Nykle;
Esser, Patrick;
Jeffery, Glen;
Poulton, Joanna

Publication type:

Article

Review: Central nervous system involvement in mitochondrial disease.

Published in:

Neuropathology & Applied Neurobiology, 2017, v. 43, n. 2, p. 102, doi. 10.1111/nan.12333

By:

Lax, N. Z.;
Gorman, G. S.;
Turnbull, D. M.

Publication type:

Article

Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.

Published in:

Neuropathology & Applied Neurobiology, 2016, v. 42, n. 5, p. 477, doi. 10.1111/nan.12282

By:

Chrysostomou, Alexia;
Grady, John P.;
Laude, Alex;
Taylor, Robert W.;
Turnbull, Doug M.;
Lax, Nichola Z.

Publication type:

Article

Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mitochondrial diseases.

Published in:

Neuropathology & Applied Neurobiology, 2003, v. 29, n. 1, p. 52, doi. 10.1046/j.1365-2990.2003.00411.x

By:

Filosto, M.;
Tonin, P.;
Vattemi, G.;
Savio, C.;
Rizzuto, N.;
Tomelleri, G.

Publication type:

Article

Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease.

Published in:

European Journal of Pediatrics, 2021, v. 180, n. 2, p. 425, doi. 10.1007/s00431-020-03804-3

By:

Chae, Hyun-Wook;
Na, Ji-Hoon;
Kwon, Ahreum;
Kim, Ho-Seong;
Lee, Young-Mock

Publication type:

Article

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.

Published in:

Genes, 2024, v. 15, n. 7, p. 894, doi. 10.3390/genes15070894

By:

Watanabe, Masaki;
Sasaki, Nobuya

Publication type:

Article

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Published in:

Genes, 2023, v. 14, n. 5, p. 1087, doi. 10.3390/genes14051087

By:

Barretta, Ferdinando;
Uomo, Fabiana;
Caldora, Filomena;
Mocerino, Rossella;
Adamo, Daniela;
Testa, Francesco;
Simonelli, Francesca;
Scudiero, Olga;
Tinto, Nadia;
Frisso, Giulia;
Mazzaccara, Cristina

Publication type:

Article

Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing.

Published in:

Genes, 2021, v. 12, n. 10, p. 1604, doi. 10.3390/genes12101604

By:

Tang, Jia-Xin;
Pyle, Angela;
Taylor, Robert W.;
Oláhová, Monika

Publication type:

Article

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

Published in:

PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0214250

By:

Kahn-Kirby, Amanda H.;
Amagata, Akiko;
Maeder, Celine I.;
Mei, Janet J.;
Sideris, Steve;
Kosaka, Yuko;
Hinman, Andrew;
Malone, Stephanie A.;
Bruegger, Joel J.;
Wang, Leslie;
Kim, Virna;
Shrader, William D.;
Hoff, Kevin G.;
Latham, Joey C.;
Ashley, Euan A.;
Wheeler, Matthew T.;
Bertini, Enrico;
Carrozzo, Rosalba;
Martinelli, Diego;
Dionisi-Vici, Carlo

Publication type:

Article

Mitochondrial disease patient motivations and barriers to participate in clinical trials.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197513

By:

Zolkipli-Cunningham, Zarazuela;
Xiao, Rui;
Stoddart, Amy;
McCormick, Elizabeth M.;
Holberts, Amy;
Burrill, Natalie;
McCormack, Shana;
Williams, Lauren;
Wang, Xiaoyan;
Thompson, John L. P.;
Falk, Marni J.

Publication type:

Article

¿Cuándo debe sospechar un nefrólogo una enfermedad mitocondrial?

Published in:

Nefrologia, 2015, v. 35, n. 1, p. 6, doi. 10.3265/Nefrologia.pre2014.Sep.12728

By:

Cavero, Teresa;
Rabasco, Cristina;
Molero, Aida;
Blázquez, Alberto;
Hernández, Eduardo;
Martín, Miguel A.;
Praga, Manuel

Publication type:

Article

The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 141, doi. 10.5114/pedm.2022.116116

By:

Wesół-Kucharska, Dorota;
Rokicki, Dariusz;
Greczan, Milena;
Kaczor, Magdalena;
Czekuć-Kryśkiewicz, Edyta;
Piekutowska-Abramczuk, Dorota;
Halat-Wolska, Paulina;
Ciara, Elżbieta;
Jaworski, Maciej;
Jezela-Stanek, Aleksandra

Publication type:

Article

Abnormal growth in mitochondrial disease.

Published in:

Acta Paediatrica, 2009, v. 98, n. 3, p. 553, doi. 10.1111/j.1651-2227.2008.01148.x

By:

Wolny, S.;
McFarland, R.;
Chinnery, P.;
Cheetham, T.

Publication type:

Article

Blended cognitive behaviour therapy for children and adolescents with mitochondrial disease targeting fatigue (PowerMe): study protocol for a multiple baseline single case experiment.

Published in:

2021

By:

Klein, I. L.;
van de Loo, K. F. E.;
Hoogeboom, T. J.;
Janssen, M. C. H.;
Smeitink, J. A. M.;
van der Veer, E.;
Verhaak, C. M.;
Custers, J. A. E.

Publication type:

journal article

A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008-2015.

Published in:

2018

By:

Cohen, Bruce;
Balcells, Cristy;
Hotchkiss, Brian;
Aggarwal, Kavita;
Karaa, Amel

Publication type:

journal article

TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03907-6

By:

Bangel, Katrin A.;
Lim, Albert Z.;
Blain, Alasdair;
Ng, Yi Shiau;
Winder, Amy;
Bulmer, Joseph;
Gorman, Grainne;
Baker, Mark;
McFarland, Robert

Publication type:

Article

Cascade testing in mitochondrial diseases: a cross-sectional retrospective study.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03850-6

By:

Haque, Sameen;
Crawley, Karen;
Schofield, Deborah;
Shrestha, Rupendra;
Sue, Carolyn M.

Publication type:

Article

The Relevance of Mitochondrial DNA Mutation in Human Diseases and Forensic Sciences: Review Article.

Published in:

Al-Nahrain Journal of Science, 2025, v. 28, n. 1, p. 96, doi. 10.22401/ANJS.28.1.11

By:

Ali, Ruaa Hussein;
Hussein, Farhan Khaleel;
Nasar, Dmoaa Majid;
Salem, Asmaa Abd Al salam

Publication type:

Article

Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease.

Published in:

Journal of the Peripheral Nervous System, 2013, v. 18, n. 1, p. 59, doi. 10.1111/jns5.12009

By:

Whittaker, Roger G.;
Hall, Elizabeth;
Mansoor, Muhammad K.;
Taylor, Robert W.;
Turnbull, Douglass M.

Publication type:

Article

Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease.

Published in:

Cells (2073-4409), 2019, v. 8, n. 1, p. 65, doi. 10.3390/cells8010065

By:

Lin, Dar-Shong;
Huang, Yu-Wen;
Ho, Che-Sheng;
Hung, Pi-Lien;
Hsu, Mei-Hsin;
Wang, Tuan-Jen;
Wu, Tsu-Yen;
Lee, Tsung-Han;
Huang, Zo-Darr;
Chang, Po-Chun;
Chiang, Ming-Fu

Publication type:

Article

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1259826

By:

Gouiza, Ismail;
Hechmi, Meriem;
Zioudi, Abir;
Dallali, Hamza;
Kheriji, Nadia;
Charif, Majida;
Le Mao, Morgane;
Galai, Said;
Kraoua, Lilia;
Youssef-Turki, Ilhem Ben;
Kraoua, Ichraf;
Lenaers, Guy;
Kefi, Rym

Publication type:

Article

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1191159

By:

Gedikbasi, Asuman;
Toksoy, Guven;
Karaca, Meryem;
Gulec, Cagri;
Balci, Mehmet Cihan;
Gunes, Dilek;
Gunes, Seda;
Aslanger, Ayca Dilruba;
Unverengil, Gokcen;
Karaman, Birsen;
Basaran, Seher;
Demirkol, Mubeccel;
Gokcay, Gulden Fatma;
Uyguner, Zehra Oya

Publication type:

Article

Anesthetic considerations of Joubert syndrome in patients with mitochondrial disease - A case report -.

Published in:

Anesthesia & Pain Medicine, 2021, v. 16, n. 2, p. 158, doi. 10.17085/apm.20091

By:

Jeong Yeon Kim;
Koun Jeong;
Ki Seob Han;
Ji Eun Park;
Mun Gyu Kim;
Mi Roung Jun

Publication type:

Article

Molecular research technologies in mitochondrial diseases: The microarray approach.

Published in:

IUBMB Life, 2005, v. 57, n. 12, p. 811, doi. 10.1080/15216540500460269

By:

Crimi, Marco;
O'Hearn, Sean;
Wallace, Douglas;
Comi, Giacomo

Publication type:

Article

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

Published in:

Journal of Central Nervous System Disease, 2020, v. 12, p. 1, doi. 10.1177/1179573520909377

By:

Al Jasmi, Fatma;
Al Zaabi, Nuha;
Al-Thihli, Khalid;
Al Teneiji, Amal M;
Hertecant, Jozef;
El-Hattab, Ayman W

Publication type:

Article

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

Published in:

Journal of Central Nervous System Disease, 2020, p. 1, doi. 10.1177/1179573520909377

By:

Al Jasmi, Fatma;
Al Zaabi, Nuha;
Al-Thihli, Khalid;
Al Teneiji, Amal M;
Hertecant, Jozef;
El-Hattab, Ayman W

Publication type:

Article

Mechanisms of mitochondrial diseases.

Published in:

Annals of Medicine, 2012, v. 44, n. 1, p. 41, doi. 10.3109/07853890.2011.598547

By:

Ylikallio, Emil;
Suomalainen, Anu

Publication type:

Article

Mitochondrial DNA and Disease.

Published in:

Annals of Medicine, 1997, v. 29, n. 3, p. 235, doi. 10.3109/07853899708999341

By:

Suomalainen, Anu

Publication type:

Article

Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100001

By:

Enns, Gregory M.;
Moore, Tereza;
Le, Anthony;
Atkuri, Kondala;
Shah, Monisha K.;
Cusmano-Ozog, Kristina;
Niemi, Anna-Kaisa;
Cowan, Tina M.

Publication type:

Article

Cardiomyopathy in children with mitochondrial disease.

Published in:

European Heart Journal, 2003, v. 24, n. 3, p. 280, doi. 10.1016/S0195-668X(02)00387-1

By:

Holmgren, D;
Wåhlander, H;
Eriksson, B.O;
Oldfors, A;
Holme, E;
Tulinius, M

Publication type:

Article

Extra-ocular muscle MRI in genetically-defined mitochondrial disease.

Published in:

2016

By:

Pitceathly, Robert;
Morrow, Jasper;
Sinclair, Christopher;
Woodward, Cathy;
Sweeney, Mary;
Rahman, Shamima;
Plant, Gordon;
Ali, Nadeem;
Bremner, Fion;
Davagnanam, Indran;
Yousry, Tarek;
Hanna, Michael;
Thornton, John;
Pitceathly, Robert D S;
Morrow, Jasper M;
Sinclair, Christopher D J;
Sweeney, Mary G;
Plant, Gordon T;
Yousry, Tarek A;
Hanna, Michael G

Publication type:

journal article