PMC Articles for MedGen (Select 413170) - PMC

Links from MedGen

Items: 1 to 20 of 458

<< First< Prev

Page of 23

Select item 109325961.

Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21

A Paripović, A Maver, N Stajić, J Putnik, S Ostojić, B Alimpić, N Ilić, A Sarajlija

Balkan J Med Genet. 2023 Dec; 26(2): 59–64. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0016

PMCID:: PMC10932596

Article PDF–499K

Select item 109081872.

Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report

Chandrashekhar A. Kubal, Plamen Mihaylov, Riley Snook, Daiki Soma, Omer Saeed, Zachary Rokop, Marco Lacerda, Brett H. Graham, Richard S. Mangus

Ann Transplant. 2024; 29: e941881-1–e941881-4. Prepublished online 2024 Feb 6. Published online 2024 Feb 27. doi: 10.12659/AOT.941881

PMCID:: PMC10908187

Article PDF–2.6M

Select item 109069533.

Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes

Grayson Beecher, Ralitza H Gavrilova, Jay Mandrekar, Elie Naddaf

Brain Commun. 2024; 6(2): fcae041. Published online 2024 Feb 14. doi: 10.1093/braincomms/fcae041

PMCID:: PMC10906953

Article PDF–1.4M

Select item 108609114.

Gastrointestinal Complications of Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome Managed By Parenteral Nutrition

Simona Horná, Martin Jozef Péč, Juraj Krivuš, Renáta Michalová, Štefan Sivák, Peter Galajda, Marián Mokáň

Eur J Case Rep Intern Med. 2024; 11(2): 004268. Published online 2024 Jan 22. doi: 10.12890/2024_004268

PMCID:: PMC10860911

Article PDF–471K

Select item 107970345.

Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review

Ziyang Feng, Rui Lai, Jia Wei, Xuan Liu, Xueqin Chen, Yangsicheng Liu, Wenxin Qin, Xiude Qin, Fanxin Kong

Front Neurol. 2023; 14: 1268053. Published online 2024 Jan 5. doi: 10.3389/fneur.2023.1268053

PMCID:: PMC10797034

Article PDF–1.1M

Select item 107676046.

The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions

Yang Zhao, Yue Hou, Xutong Zhao, Tongling Liufu, Meng Yu, Wei Zhang, Zhiying Xie, Victor Wei Zhang, Yun Yuan, Zhaoxia Wang

Mol Genet Genomic Med. 2024 Jan; 12(1): e2328. Published online 2023 Nov 28. doi: 10.1002/mgg3.2328

PMCID:: PMC10767604

Article PDF–1.3M

Select item 107665517.

Subacute‐onset cataract in a 29‐year‐old man with mitochondrial encephalomyopathy: A case report

Lu Chen, Yueyang Zhong, Jingjie Xu, Qiuli Fu, Ke Yao

Clin Case Rep. 2024 Jan; 12(1): e8417. Published online 2024 Jan 4. doi: 10.1002/ccr3.8417

PMCID:: PMC10766551

Article PDF–1.8M

Select item 107530098.

The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study

Benjamin C. Cox, Jennifer Y. Pearson, Jay Mandrekar, Ralitza H. Gavrilova

Front Neurol. 2023; 14: 1298569. Published online 2023 Dec 14. doi: 10.3389/fneur.2023.1298569

PMCID:: PMC10753009

Article PDF–1.3M

Select item 107529839.

Case report: A case of primary angiitis of the central nervous system: misdiagnosed for 3.5 years

Lixia Qin, Miao He, Wei Lu

Front Neurol. 2023; 14: 1337410. Published online 2023 Dec 14. doi: 10.3389/fneur.2023.1337410

PMCID:: PMC10752983

Article PDF–972K

Select item 1074299410.

MELAS-Derived Neurons Functionally Improve by Mitochondrial Transfer from Highly Purified Mesenchymal Stem Cells (REC)

Lu Liu, Jiahao Yang, Yoshinori Otani, Takahiro Shiga, Akihiro Yamaguchi, Yasuaki Oda, Miho Hattori, Tsukimi Goto, Shuichi Ishibashi, Yuki Kawashima-Sonoyama, Takaya Ishihara, Yumi Matsuzaki, Wado Akamatsu, Masashi Fujitani, Takeshi Taketani

Int J Mol Sci. 2023 Dec; 24(24): 17186. Published online 2023 Dec 6. doi: 10.3390/ijms242417186

PMCID:: PMC10742994

Article PDF–9.5M

Select item 1069509011.

Long-Term Safety of Systemic Ozone Therapy in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Daniele Romanello, Sara Rotunno, Mauro Martinelli

Cureus. 2023 Nov; 15(11): e48261. Published online 2023 Nov 4. doi: 10.7759/cureus.48261

PMCID:: PMC10695090

Article PDF–81K

Select item 1068383512.

Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism

Makayla S. Lancaster, Byungwook Kim, Emma H. Doud, Mason D. Tate, Ahmad D. Sharify, Hongyu Gao, Duojiao Chen, Ed Simpson, Patrick Gillespie, Xiaona Chu, Marcus J. Miller, Yue Wang, Yunlong Liu, Amber L. Mosley, Jungsu Kim, Brett H. Graham

Cell Rep. Author manuscript; available in PMC 2023 Nov 28.

Published in final edited form as: Cell Rep. 2023 Oct 31; 42(10): 113241. Published online 2023 Oct 17. doi: 10.1016/j.celrep.2023.113241

PMCID:: PMC10683835

Article PDF–2.3M

Select item 1068152213.

Prolonged misdiagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: A case report

Yun Wang, Weimin Zhang, Xuandong Jiang

Medicine (Baltimore) 2023 Nov 24; 102(47): e36008. Published online 2023 Nov 24. doi: 10.1097/MD.0000000000036008

PMCID:: PMC10681522

Article PDF–666K

Select item 1058083614.

Anesthetic Management of a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome During Extensive Spinal Surgery With Both Motor Evoked Potentials and Somatosensory Evoked Potentials: A Case Report

Mohammad S Salehpoor, Matthew R Paluska, Ricardo Falcon, Marcus A Kuikka, Timothy R Petersen, Codruta N Soneru

Cureus. 2023 Oct; 15(10): e47198. Published online 2023 Oct 17. doi: 10.7759/cureus.47198

PMCID:: PMC10580836

Article PDF–423K

Select item 1056014615.

The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications

Alexis V. Rioux, Nicolas AD. Bergeron, Julie Riopel, Nicolas Marcoux, Catherine Thériault, Peter V. Gould, Alexandre P. Garneau, Paul Isenring

J Mol Med (Berl) 2023; 101(10): 1229–1236. Published online 2023 Aug 16. doi: 10.1007/s00109-023-02356-x

PMCID:: PMC10560146

Article PDF–2.1M

Select item 1054421716.

Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations

Jingdian Zhang, Camilla Koolmeister, Jinming Han, Roberta Filograna, Leo Hanke, Monika Àdori, Daniel J. Sheward, Sina Teifel, Shreekara Gopalakrishna, Qiuya Shao, Yong Liu, Keying Zhu, Robert A. Harris, Gerald McInerney, Ben Murrell, Mike Aoun, Liselotte Bäckdahl, Rikard Holmdahl, Marcin Pekalski, Anna Wedell, Martin Engvall, Anna Wredenberg, Gunilla B. Karlsson Hedestam, Xaquin Castro Dopico, Joanna Rorbach

JCI Insight. 2023 Sep 8; 8(17): e167656. Published online 2023 Sep 8. doi: 10.1172/jci.insight.167656