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Items: 1 to 20 of 121

1.
Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox
Vykuntaraju K Gowda, Arun Y. Bylappa, Uddhav Kinhal, Varunvenkat M. Srinivasan, Dhananjaya K. Vamyanmane
Ann Indian Acad Neurol. 2023 Nov-Dec; 26(6): 977–979. Published online 2023 Aug 11. doi: 10.4103/aian.aian_339_23
PMCID:
PMC10789425
ArticlePDF–1.3M
2.
5-Aminolevulinic acid bypasses mitochondrial complex I deficiency and corrects physiological dysfunctions in Drosophila
Naoko Nozawa, Marie Noguchi, Kanako Shinno, Taro Saito, Akiko Asada, Takuya Ishii, Kiwamu Takahashi, Masahiro Ishizuka, Kanae Ando
Hum Mol Genet. 2023 Aug 15; 32(16): 2611–2622. Published online 2023 Jun 26. doi: 10.1093/hmg/ddad092
PMCID:
PMC10407699
ArticlePDF–1.8M
3.
Yeast NDI1 reconfigures neuronal metabolism and prevents the unfolded protein response in mitochondrial complex I deficiency
Lucy Granat, Debbra Y. Knorr, Daniel C. Ranson, Emma L. Hamer, Ram Prosad Chakrabarty, Francesca Mattedi, Laura Fort-Aznar, Frank Hirth, Sean T. Sweeney, Alessio Vagnoni, Navdeep S. Chandel, Joseph M. Bateman
PLoS Genet. 2023 Jul; 19(7): e1010793. Published online 2023 Jul 3. doi: 10.1371/journal.pgen.1010793
PMCID:
PMC10348588
ArticlePDF–3.5M
4.
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency
Charlotte Dubucs, Jacqueline Aziza, Agnès Sartor, François Heitz, Annick Sevely, Damien Sternberg, Claude Jardel, Tiscar Cavallé-Garrido, Steffen Albrecht, Chantal Bernard, Isabelle De Bie, Nicolas Chassaing
Mol Syndromol. 2023 Apr; 14(2): 101–108. Published online 2022 Oct 21. doi: 10.1159/000526022
PMCID:
PMC10091013
ArticlePDF–1.0M
5.
Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report
Lina Men, Jinxing Feng, Weimin Huang, Mingguo Xu, Xiaoli Zhao, Ruixin Sun, Jianfang Xu, Liming Cao
Medicine (Baltimore) 2022 Aug 26; 101(34): e30303. Published online 2022 Aug 26. doi: 10.1097/MD.0000000000030303
PMCID:
PMC9410648
ArticlePDF–1.2M
6.
Noninvasive Ophthalmic Imaging Measures Retinal Degeneration and Vision Deficits in Ndufs4−/− Mouse Model of Mitochondrial Complex I Deficiency
Maria I. Avrutsky, Jacqueline M. Lawson, Jade E. Smart, Claire W. Chen, Carol M. Troy
Transl Vis Sci Technol. 2022 Aug; 11(8): 5. Published online 2022 Aug 3. doi: 10.1167/tvst.11.8.5
PMCID:
PMC9360534
ArticlePDF–8.2M
7.
Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome
Yangfang Li, Yu Zhang, Gengpan Jiang, Yan Wang, Canlin He, Xiaofen Zhao, Ling Liu, Li Li
Medicine (Baltimore) 2022 Jul 8; 101(27): e29239. Published online 2022 Jul 8. doi: 10.1097/MD.0000000000029239
PMCID:
PMC9259100
ArticlePDF–1.5M
8.
Adipose Mitochondrial Complex I Deficiency Modulates Inflammation and Glucose Homeostasis in a Sex-Dependent Manner
Kyung-Mi Choi, Karen K Ryan, John C Yoon
Endocrinology. 2022 Apr; 163(4): bqac018. Published online 2022 Feb 16. doi: 10.1210/endocr/bqac018
PMCID:
PMC8900697
Article
9.
Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association
Rohan R. Mahale, Jyothi Gautam, Gautam Arunachal, Sandhya Alappati, Nibu Varghese, Jennifer Kovoor, Pooja Mailankody, Hansashree Padmanabha, Mathuranath Pavagada
J Pediatr Neurosci. 2021 Apr-Jun; 16(2): 153–155. Published online 2021 Jul 12. doi: 10.4103/jpn.JPN_96_20
PMCID:
PMC8706591
Article
10.
Mitochondrial Complex I Deficiency among Egyptian Pediatric Patients with Steroid-Resistant Nephrotic Syndrome
Doaa M. Abdou, AbdelAal Mohamed, Mohamed Abdulhay, Sara El Khateeb
Int J Nephrol. 2021; 2021: 6645373. Published online 2021 May 18. doi: 10.1155/2021/6645373
PMCID:
PMC8154280
ArticlePDF–376K
11.
Age‐associated mitochondrial complex I deficiency is linked to increased stem cell proliferation rates in the mouse colon
Craig Stamp, Julia C. Whitehall, Anna L. M. Smith, David Houghton, Carla Bradshaw, Elizabeth A. Stoll, Alasdair P. Blain, Doug M. Turnbull, Laura C. Greaves
Aging Cell. 2021 Mar; 20(3): e13321. Published online 2021 Feb 24. doi: 10.1111/acel.13321
PMCID:
PMC7963326
ArticlePDF–1.1M
12.
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch, Manuel Schiff
Orphanet J Rare Dis. 2019; 14: 236. Published online 2019 Oct 29. doi: 10.1186/s13023-019-1185-3
PMCID:
PMC6821020
ArticlePDF–1.8M
13.
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency
Sofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, Luis Gutiérrez-Solana, Liesbeth Wintjes, Antonia Kappen, Lambert van den Heuvel, Rosaura Leis, Richard Rodenburg, María Luz Couce
J Clin Med. 2019 Aug; 8(8): 1262. Published online 2019 Aug 20. doi: 10.3390/jcm8081262
PMCID:
PMC6723710
ArticlePDF–1.0M
14.
A novel de novo STXBP1 mutation causes mitochondrial complex I deficiency and late onset juvenile onset parkinsonism
MJ Keogh, D Daud, A Pyle, H Steele, J Duff, H Griffin, S Taggart, AP Basu, R Taylor, R Horvath, V Ramesh, PF Chinnery
Neurogenetics. Author manuscript; available in PMC 2019 Jul 1.
Published in final edited form as: Neurogenetics. 2015 Jan 1; 16(1): 65–67. Published online 2014 Nov 25. doi: 10.1007/s10048-014-0431-z
PMCID:
PMC6600868
ArticlePDF–596K
15.
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array
Sarah Foriel, G. Herma Renkema, Yvonne Lasarzewski, Job Berkhout, Richard J. Rodenburg, Jan A. M. Smeitink, Julien Beyrath, Annette Schenck
Front Genet. 2019; 10: 245. Published online 2019 Mar 27. doi: 10.3389/fgene.2019.00245
PMCID:
PMC6445954
ArticlePDF–1.1M
16.
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency
Anshika Srivastava, Kinshuk Raj Srivastava, Malavika Hebbar, Chelna Galada, Rajagopal Kadavigrere, Fengyun Su, Xuhong Cao, Arul M. Chinnaiyan, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas
Eur J Hum Genet. 2018 Nov; 26(11): 1582–1587. Published online 2018 Jul 5. doi: 10.1038/s41431-018-0209-0
PMCID:
PMC6189076
ArticlePDF–1.2M
17.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Charlotte L. Alston, Juliana Heidler, Marris G. Dibley, Laura S. Kremer, Lucie S. Taylor, Carl Fratter, Courtney E. French, Ruth I.C. Glasgow, René G. Feichtinger, Isabelle Delon, Alistair T. Pagnamenta, Helen Dolling, Hugh Lemonde, Neil Aiton, Alf Bjørnstad, Lisa Henneke, Jutta Gärtner, Holger Thiele, Katerina Tauchmannova, Gerardine Quaghebeur, Josef Houstek, Wolfgang Sperl, F. Lucy Raymond, Holger Prokisch, Johannes A. Mayr, Robert McFarland, Joanna Poulton, Michael T. Ryan, Ilka Wittig, Marco Henneke, Robert W. Taylor
Am J Hum Genet. 2018 Oct 4; 103(4): 592–601. Published online 2018 Sep 20. doi: 10.1016/j.ajhg.2018.08.013
PMCID:
PMC6174280
ArticlePDF–1.4M
18.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy
Dorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, René G. Feichtinger, Eliška Koňařiková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gusic, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia B. Wortmann, Wolfgang Sperl, Agnès Rötig, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A. Mayr
Am J Hum Genet. 2018 Mar 1; 102(3): 460–467. Published online 2018 Feb 8. doi: 10.1016/j.ajhg.2018.01.008
PMCID:
PMC5985356
ArticlePDF–1.5M
19.
Mitochondrial Complex I Deficiency in Schizophrenia and Bipolar Disorder and Medication Influence
Brandi L. Rollins, Ling Morgan, Brooke E. Hjelm, Adolfo Sequeira, Alan F. Schatzberg, Jack D. Barchas, Francis S. Lee, Rick M. Myers, Stanley J. Watson, Huda Akil, Steven G. Potkin, William E. Bunney, Marquis P. Vawter
Mol Neuropsychiatry. 2018 Feb; 3(3): 157–169. Published online 2017 Nov 30. doi: 10.1159/000484348
PMCID:
PMC5836256
ArticlePDF–497K
20.
Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency
Takashi K. Ito, Chenhao Lu, Jacob Khan, Quy Nguyen, Heather Z. Huang, Dayae Kim, James J. Phillips, Jo Tan, Yenna Lee, Tuyet Nguyen, Samy Khessib, Natalie Lim, Surapat Mekvanich, Joshua Oh, Victor V. Pineda, Weirong Wang, Alessandro Bitto, Jonathan Y. An, John F. Morton, Mitsutoshi Setou, Warren C. Ladiges, Matt Kaeberlein
Front Genet. 2017; 8: 221. Published online 2017 Dec 22. doi: 10.3389/fgene.2017.00221
Corrects:
Front Genet. 2017; 8: 113.
PMCID:
PMC5744015
CorrectionPDF–132K

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