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Items: 1 to 20 of 3515

1.
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study
C. Nogueira, C. Pereira, L. Silva, Mateus Laranjeira, A. Lopes, R. Neiva, E. Rodrigues, T. Campos, E. Martins, A. Bandeira, M. Coelho, M. Magalhães, J. Damásio, A. Gaspar, P Janeiro, A. Levy Gomes, A. C. Ferreira, S. Jacinto, J. P. Vieira, L. Diogo, H. Santos, C. Mendonça, L. Vilarinho
Front Cell Dev Biol. 2024; 12: 1331351. Published online 2024 Feb 23. doi: 10.3389/fcell.2024.1331351
PMCID:
PMC10920333
AbstractArticlePDF–2.0M
2.
Perceived association of mood and symptom severity in adults with mitochondrial diseases
Catherine Kelly, Alex Junker, Kris Englestad, Michio Hirano, Caroline Trumpff, Martin Picard
Version 1. medRxiv. Preprint. 2024 Feb 4. doi: 10.1101/2024.02.02.24302076
PMCID:
PMC10862998
AbstractArticlePDF–1.3M
3.
Mitochondrial diseases and mtDNA editing
Min Song, Lingqun Ye, Yongjin Yan, Xuechun Li, Xinglong Han, Shijun Hu, Miao Yu
Genes Dis. 2024 May; 11(3): 101057. Published online 2023 Aug 9. doi: 10.1016/j.gendis.2023.06.026
PMCID:
PMC10825299
AbstractArticlePDF–813K
4.
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
Ismail Gouiza, Meriem Hechmi, Abir Zioudi, Hamza Dallali, Nadia Kheriji, Majida Charif, Morgane Le Mao, Said Galai, Lilia Kraoua, Ilhem Ben Youssef-Turki, Ichraf Kraoua, Guy Lenaers, Rym Kefi
Front Genet. 2023; 14: 1259826. Published online 2024 Jan 12. doi: 10.3389/fgene.2023.1259826
PMCID:
PMC10811255
AbstractArticlePDF–2.2M
5.
Animal Models of Mitochondrial Diseases Associated with Nuclear Gene Mutations
O. A. Averina, S. A. Kuznetsova, O. A. Permyakov, P. V. Sergiev
Acta Naturae. 2023 Oct-Dec; 15(4): 4–22. doi: 10.32607/actanaturae.25442
PMCID:
PMC10790356
AbstractArticlePDF–321K
6.
Endocrine features of primary mitochondrial diseases
Lindsay Romo, Nina B. Gold, Melissa A. Walker
Curr Opin Endocrinol Diabetes Obes. 2024 Feb; 31(1): 34–42. Published online 2023 Dec 4. doi: 10.1097/MED.0000000000000848
PMCID:
PMC10734788
AbstractArticlePDF–1.1M
7.
Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?
Federica Conti, Serena Di Martino, Filippo Drago, Claudio Bucolo, Vincenzo Micale, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso, Piervito Lopriore
Int J Mol Sci. 2023 Dec; 24(23): 16746. Published online 2023 Nov 25. doi: 10.3390/ijms242316746
PMCID:
PMC10706469
AbstractArticlePDF–1.0M
8.
MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
Shuangshuang Huang, Zhaoyu Wu, Tong Wang, Rui Yu, Zhijian Song, Hao Wang
Hum Genomics. 2023; 17: 108. Published online 2023 Nov 27. doi: 10.1186/s40246-023-00557-6
PMCID:
PMC10683248
AbstractArticlePDF–4.2M
9.
The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases
Richard Baskerville, Nykle Krijgsveld, Patrick Esser, Glen Jeffery, Joanna Poulton
J Lasers Med Sci. 2023; 14: e41. Published online 2023 Oct 10. doi: 10.34172/jlms.2023.41
PMCID:
PMC10658120
AbstractArticlePDF–303K
10.
Clinical Approaches for Mitochondrial Diseases
Seongho Hong, Sanghun Kim, Kyoungmi Kim, Hyunji Lee
Cells. 2023 Oct; 12(20): 2494. Published online 2023 Oct 20. doi: 10.3390/cells12202494
PMCID:
PMC10605124
AbstractArticlePDF–1.9M
11.
Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation
Hiroaki Miyahara, Chisato Tamai, Masanori Inoue, Kazuhito Sekiguchi, Daisuke Tahara, Nao Tahara, Kazuhiro Takeda, Shusei Arafuka, Hideyuki Moriyoshi, Ryuichi Koizumi, Akio Akagi, Yuichi Riku, Jun Sone, Mari Yoshida, Kenji Ihara, Yasushi Iwasaki
Brain Pathol. 2023 Nov; 33(6): e13199. Published online 2023 Aug 3. doi: 10.1111/bpa.13199
PMCID:
PMC10580013
AbstractArticlePDF–4.1M
12.
Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases
Gabriella Cadoni, Guido Primiano, Pasqualina M. Picciotti, Rosalinda Calandrelli, Jacopo Galli, Serenella Servidei, Guido Conti
J Pers Med. 2023 Sep; 13(9): 1329. Published online 2023 Aug 29. doi: 10.3390/jpm13091329
PMCID:
PMC10532611
AbstractArticlePDF–254K
13.
MYC—an emerging player in mitochondrial diseases
Janne Purhonen, Juha Klefström, Jukka Kallijärvi
Front Cell Dev Biol. 2023; 11: 1257651. Published online 2023 Sep 4. doi: 10.3389/fcell.2023.1257651
PMCID:
PMC10507175
AbstractArticlePDF–1.4M
14.
Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases
Ena Tomoda, Asuteka Nagao, Yuki Shirai, Kana Asano, Takeo Suzuki, Brendan J Battersby, Tsutomu Suzuki
Nucleic Acids Res. 2023 Aug 11; 51(14): 7563–7579. Published online 2023 Mar 17. doi: 10.1093/nar/gkad139
PMCID:
PMC10415153
AbstractArticlePDF–1.9M
15.
Mitochondria and the eye—manifestations of mitochondrial diseases and their management
Benson S. Chen, Joshua P. Harvey, Michael J. Gilhooley, Neringa Jurkute, Patrick Yu-Wai-Man
Eye (Lond) 2023 Aug; 37(12): 2416–2425. Published online 2023 Apr 25. doi: 10.1038/s41433-023-02523-x
PMCID:
PMC10397317
AbstractArticlePDF–2.0M
16.
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae
Martina Magistrati, Alexandru Ionut Gilea, Maria Carla Gerra, Enrico Baruffini, Cristina Dallabona
Int J Mol Sci. 2023 Jul; 24(13): 10696. Published online 2023 Jun 27. doi: 10.3390/ijms241310696
PMCID:
PMC10341415
AbstractArticlePDF–1.1M
17.
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Dilek Gunes, Seda Gunes, Ayca Dilruba Aslanger, Gokcen Unverengil, Birsen Karaman, Seher Basaran, Mubeccel Demirkol, Gulden Fatma Gokcay, Zehra Oya Uyguner
Front Genet. 2023; 14: 1191159. Published online 2023 Jun 12. doi: 10.3389/fgene.2023.1191159
PMCID:
PMC10292751
AbstractArticlePDF–1.2M
18.
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes
Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli
Int J Mol Sci. 2023 May; 24(10): 9108. Published online 2023 May 22. doi: 10.3390/ijms24109108
PMCID:
PMC10218839
AbstractArticlePDF–2.9M
19.
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method
Ferdinando Barretta, Fabiana Uomo, Filomena Caldora, Rossella Mocerino, Daniela Adamo, Francesco Testa, Francesca Simonelli, Olga Scudiero, Nadia Tinto, Giulia Frisso, Cristina Mazzaccara
Genes (Basel) 2023 May; 14(5): 1087. Published online 2023 May 15. doi: 10.3390/genes14051087
PMCID:
PMC10217848
AbstractArticlePDF–2.1M
20.
Why Don’t More Mitochondrial Diseases Exhibit Cardiomyopathy?
Nina Singh, Mindong Ren, Colin K. L. Phoon
J Cardiovasc Dev Dis. 2023 Apr; 10(4): 154. Published online 2023 Apr 1. doi: 10.3390/jcdd10040154
PMCID:
PMC10144188
AbstractArticlePDF–628K

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