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Select item 111681641.

Clinical drivers of hospitalisation in patients with mitochondrial diseases

Sameen Haque, Karen Crawley, Ryan Davis, Deborah Schofield, Rupendra Shrestha, Carolyn M Sue

BMJ Neurol Open. 2024; 6(1): e000717. Published online 2024 Jun 11. doi: 10.1136/bmjno-2024-000717

PMCID:: PMC11168164

Abstract Article PDF–1.2M

Select item 111636452.

Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis

Thiloka E Ratnaike, Nour Elkhateeb, Angela Lochmüller, Christopher Gilmartin, Katherine Schon, Rita Horváth, Patrick F Chinnery

BMJ Neurol Open. 2024; 6(1): e000650. Published online 2024 Jun 5. doi: 10.1136/bmjno-2024-000650

PMCID:: PMC11163645

Abstract Article PDF–1.7M

Select item 111188923.

Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation

Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, José Manuel Romero Domínguez, Marta Talaverón-Rey, Diana Reche-López, Juan Miguel Suárez-Rivero, Mónica Álvarez-Córdoba, Ana Romero-González, Alejandra López-Cabrera, Marta Castro De Oliveira, Andrés Rodríguez-Sacristan, José Antonio Sánchez-Alcázar

Biomolecules. 2024 May; 14(5): 598. Published online 2024 May 18. doi: 10.3390/biom14050598

PMCID:: PMC11118892

Abstract Article PDF–8.6M

Select item 110727394.

Mitochondrial microRNA (MitomiRs) in cancer and complex mitochondrial diseases: current status and future perspectives

Paresh Kumar Purohit, Neeru Saini

Cell Mol Life Sci. 2021 Feb; 78(4): 1405–1421. Published online 2020 Oct 21. doi: 10.1007/s00018-020-03670-0

PMCID:: PMC11072739

Abstract Article PDF–3.0M

Select item 110423435.

Psychobiological regulation of plasma and saliva GDF15 dynamics in health and mitochondrial diseases

Qiuhan Huang, Caroline Trumpff, Anna S Monzel, Shannon Rausser, Rachel Haahr, Jack Devine, Cynthia C Liu, Catherine Kelly, Elizabeth Thompson, Mangesh Kurade, Jeremy Michelson, Evan D Shaulson, Shufang Li, Kris Engelstad, Kurenai Tanji, Vincenzo Lauriola, Tian Wang, Shuang Wang, Faris M Zuraikat, Marie-Pierre St-Onge, Brett A Kaufman, Richard Sloan, Robert-Paul Juster, Anna L Marsland, Gilles Gouspillou, Michio Hirano, Martin Picard

Version 3. bioRxiv. Preprint. 2024 Apr 21 [revised 2024 Apr 26]. doi: 10.1101/2024.04.19.590241

PMCID:: PMC11042343

Abstract Article PDF–24M

Select item 109203336.

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

Abstract Article PDF–2.0M

Select item 108629987.

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

Abstract Article PDF–1.3M

Select item 108252998.

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

Abstract Article PDF–813K

Select item 108112559.

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

Abstract Article PDF–2.2M

Select item 1079035610.

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

Abstract Article PDF–321K

Select item 1073478811.

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

Abstract Article PDF–1.1M

Select item 1070646912.

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

Abstract Article PDF–1.0M

Select item 1068324813.

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

Abstract Article PDF–4.2M

Select item 1065812014.

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

Abstract Article PDF–303K

Select item 1060512415.

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

Abstract Article PDF–1.9M

Select item 1058001316.

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