PMC Articles for MedGen (Select 349179) - PMC

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 106815224.

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 106252635.

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi, Fatma Al-Jasmi

Orphanet J Rare Dis. 2023; 18: 344. Published online 2023 Nov 3. doi: 10.1186/s13023-023-02946-5

PMCID:: PMC10625263

Article PDF–1.2M

Select item 105800136.

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

Article PDF–4.1M

Select item 105442177.

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

PMCID:: PMC10544217

Article PDF–1.8M

Select item 104438088.

Multimodal single-cell analysis of nonrandom heteroplasmy distribution in human retinal mitochondrial disease

Nathaniel K. Mullin, Andrew P. Voigt, Miles J. Flamme-Wiese, Xiuying Liu, Megan J. Riker, Katayoun Varzavand, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins

JCI Insight. 2023 Jul 24; 8(14): e165937. Published online 2023 Jul 24. doi: 10.1172/jci.insight.165937

PMCID:: PMC10443808

Article PDF–15M

Select item 104245009.

Protean Phenotypic Features of the A3243G Mitochondrial DNA Mutation

Petra Kaufmann, Kristin Engelstad, Ying Wei, Romana Kulikova, Maryam Oskoui, Vanessa Battista, Dorcas Y. Koenigsberger, Juan M. Pascual, Mary Sano, Michio Hirano, Salvatore DiMauro, Dikoma C. Shungu, Xiangling Mao, Darryl C. De Vivo

Arch Neurol. Author manuscript; available in PMC 2023 Aug 14.

Published in final edited form as: Arch Neurol. 2009 Jan; 66(1): 85–91. doi: 10.1001/archneurol.2008.526

PMCID:: PMC10424500

Article PDF–373K

Select item 1041515310.

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

Article PDF–1.9M

Select item 1027026711.

A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt‐ND variants

Wei Wang, Yuying Zhao, Xuebi Xu, Xiaotian Ma, Yuan Sun, Yan Lin, Ying Zhao, Zhihong Xu, Jiayin Wang, Hong Ren, Bin Wang, Dandan Zhao, Dongdong Wang, Fuchen Liu, Wei Li, Chuanzhu Yan, Kunqian Ji

Ann Clin Transl Neurol. 2023 Jun; 10(6): 1035–1045. Published online 2023 May 23. doi: 10.1002/acn3.51787

PMCID:: PMC10270267

Article PDF–3.3M

Select item 1022634812.

MELAS or Leigh syndrome, that’s the question

Josef Finsterer

Pediatr Endocrinol Diabetes Metab. 2021 Dec; 27(4): 311–312. Published online 2021 Dec 30. doi: 10.5114/pedm.2022.112695

PMCID:: PMC10226348

Article PDF–448K

Select item 1021497513.

Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland

Magdalena Kaczor, Dorota Wesół-Kucharska, Milena Greczan, Karolina Kierus, Łukasz Kałużny, Monika Duś-Żuchowska, Ewa Ehmke vel Emczyńska-Seliga, Elżbieta Ciara, Janusz Książyk, Dariusz Rokicki

Pediatr Endocrinol Diabetes Metab. 2022 Sep; 28(3): 207–212. Published online 2022 May 12. doi: 10.5114/pedm.2022.116115

PMCID:: PMC10214975

Article PDF–544K

Select item 1015890414.

Diffuse posterior leukoencephalopathy in MELAS without stroke-like episodes: A case report

Peng Bai, Yinling Feng, Jin Chen, Hong Chang

Medicine (Baltimore) 2023 May 5; 102(18): e33725. Published online 2023 May 5. doi: 10.1097/MD.0000000000033725

PMCID:: PMC10158904

Article PDF–738K

Select item 1015859815.

Comprehensive Diagnostic Criteria for MELAS Syndrome; a Case Study Involving an Elderly Patient With MT-TWm.5541C>T Mutation

Gang Wu, Yuguang Shen, Feng Zhu, Weiwei Tao, Yuanlin Zhou, Shaofa Ke, Huihua Jiang

Neurologist. 2023 May; 28(3): 190–194. Published online 2022 Sep 17. doi: 10.1097/NRL.0000000000000457

PMCID:: PMC10158598

Article PDF–351K

Select item 1012396516.

Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation

Simone Scarcella, Laura Dell’Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniele Velardo, Claudia Mainetti, Valeria Minorini, Dario Ronchi, Daniela Piga, Giacomo Pietro Comi, Stefania Corti, Megi Meneri

BMC Neurol. 2023; 23: 165. Published online 2023 Apr 24. doi: 10.1186/s12883-023-03198-3

PMCID:: PMC10123965

Article PDF–1.3M

Select item 1010696917.

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi, Hidehito Kondo, Erina Nakahara, Keiko Shimojima Yamamoto, Hitoshi Kanno, Yoshinori Katayama

Am J Case Rep. 2023; 24: e938396-1–e938396-6. Published online 2023 Apr 13. doi: 10.12659/AJCR.938396

PMCID:: PMC10106969

Article PDF–817K

Select item 974574218.

Novel Presentations Associated with a PDHA1 variant – Alternating Hemiplegia in Hemizygote Proband and Guillain Barre Syndrome in Heterozygote Mother

Kuntal Sen, George Grahame, Jirair K. Bedoyan, Andrea L. Gropman

Eur J Paediatr Neurol. Author manuscript; available in PMC 2022 Dec 13.

Published in final edited form as: Eur J Paediatr Neurol. 2021 Mar; 31: 27–30. Published online 2021 Jan 22. doi: 10.1016/j.ejpn.2021.01.006

PMCID:: PMC9745742

Article PDF–125K

Select item 957570519.

Data-independent acquisition-based quantitative proteomic analysis of m.3243A>G MELAS reveals novel potential pathogenesis and therapeutic targets

Xueli Chang, Zhaoxu Yin, Wei Zhang, Jiaying Shi, Chuanqiang Pu, Qiang Shi, Juan Wang, Jing Zhang, Li Yan, Wenqu Yang, Junhong Guo

Medicine (Baltimore) 2022 Oct 14; 101(41): e30938. Published online 2022 Oct 14. doi: 10.1097/MD.0000000000030938

PMCID:: PMC9575705

Article PDF–943K

Select item 954967720.

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report

Ahmad F. Alenezi, Mariam A. Almelahi, Feten Fekih-Romdhana, Haitham A. Jahrami

J Med Case Rep. 2022; 16: 361. Published online 2022 Oct 10. doi: 10.1186/s13256-022-03613-2

PMCID:: PMC9549677

Article PDF–919K

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