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TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy
Author / Creator:Zhang, Shujie ; Qin, Haisong ; Wang, Qingming ; Wang, Yingfei ; Liu, Yanhui ; Yang, Qi ; Luo, Jingsi ; Qin, Zailong ; Ji, Xiang ; Kan, Lijuan ; Geng, Guoxing ; Huang, Jing ; Wei, Shengkai ; Chen, Qiuli ; Shen, Yiping ; Yuan, Haiming ; Lai, Baoling
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-10, Vol.19 (1), p.376-6, Article 376
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Stem cell‐derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy
Author / Creator:Liu, Kaiming ; Zhou, Zhijian ; Pan, Mengxiong ; Zhang, Lining
Publisher:England: John Wiley & Sons, Inc
Journal title:CNS neuroscience & therapeutics, 2021-07, Vol.27 (7), p.733-742
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Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
Author / Creator:Kalkan Uçar, Sema ; Yazıcı, Havva ; Canda, Ebru ; Er, Esra ; Bulut, Fatma Derya ; Eraslan, Cenk ; Onay, Hüseyin ; Bax, Bridget Elizabeth ; Çoker, Mahmut
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-09, Vol.63 (5), p.484-493
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Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Author / Creator:Spiegel, Ronen ; Saada, Ann ; Flannery, Padraig J ; Burté, Florence ; Soiferman, Devorah ; Khayat, Morad ; Eisner, Verónica ; Vladovski, Eugene ; Taylor, Robert W ; Bindoff, Laurence A ; Shaag, Avraham ; Mandel, Hanna ; Schuler-Furman, Ora ; Shalev, Stavit A ; Elpeleg, Orly ; Yu-Wai-Man, Patrick
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-02, Vol.53 (2), p.127-131
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Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
Author / Creator:Paramasivam, Arumugam ; Meena, Angamuthu K. ; Venkatapathi, Challa ; Pitceathly, Robert D.S. ; Thangaraj, Kumarasamy
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2020-12, Vol.70 (12), p.1962-1965
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Mic60 is essential to maintain mitochondrial integrity and to prevent encephalomyopathy
Author / Creator:Dong, Tingting ; Zhang, Zai‐Qiang ; Sun, Li‐Hong ; Zhang, Weilong ; Zhu, Zhaohui ; Lin, Lin ; Yang, Lin ; Lv, An ; Liu, Chunying ; Li, Qing ; Yang, Rui‐Feng ; Zhang, Xiuru ; Niu, Yamei ; Chen, Hou‐Zao ; Liu, De‐Pei ; Tong, Wei‐Min
Publisher:Switzerland: John Wiley & Sons, Inc
Journal title:Brain pathology (Zurich, Switzerland), 2023-07, Vol.33 (4), p.e13157-n/a
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Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy
Author / Creator:Mencias, Mark ; Levene, Michelle ; Blighe, Kevin ; Bax, Bridget E ; On Behalf Of The Project Group
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-04, Vol.22 (7), p.3681
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Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Author / Creator:Chung, Wendy K ; Martin, Kimberly ; Jalas, Chaim ; Braddock, Stephen R ; Juusola, Jane ; Monaghan, Kristin G ; Warner, Barbara ; Franks, Samuel ; Yudkoff, Marc ; Lulis, Lauren ; Rhodes, Roy H ; Prasad, Vinay ; Torti, Erin ; Cho, Megan T ; Shinawi, Marwan
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-09, Vol.52 (9), p.627-635
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Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications
Author / Creator:D’Angelo, Roberto ; Boschetti, Elisa ; Amore, Giulia ; Costa, Roberta ; Pugliese, Alessia ; Caporali, Leonardo ; Gramegna, Laura Ludovica ; Papa, Valentina ; Vizioli, Luca ; Capristo, Mariantonietta ; Contin, Manuela ; Mohamed, Susan ; Cenacchi, Giovanna ; Lodi, Raffaele ; Morelli, Maria Cristina ; Fasano, Luca ; Pisani, Lara ; Cescon, Matteo ; Tonon, Caterina ; Pinna, Antonio Daniele ; Dotti, Maria Teresa ; Sicurelli, Francesco ; Scarpelli, Mauro ; Filosto, Massimiliano ; Casali, Carlo ; Pironi, Loris ; Carelli, Valerio ; De Giorgio, Roberto ; Rinaldi, Rita
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-12, Vol.267 (12), p.3702-3710
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Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
Author / Creator:Abdulhag, Ulla Najwa ; Soiferman, Devorah ; Schueler-Furman, Ora ; Miller, Chaya ; Shaag, Avraham ; Elpeleg, Orly ; Edvardson, Simon ; Saada, Ann
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.159-164
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Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Author / Creator:González-Vioque, Emiliano ; Torres-Torronteras, Javier ; Andreu, Antoni L ; Martí, Ramon
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2011-03, Vol.7 (3), p.e1002035-e1002035
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Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)- a cross-sectional study
Author / Creator:Stoevesandt, Dietrich ; Schlitt, Axel ; Röntgen, Philipp ; Kraya, Torsten
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.62-7
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S3091 An Unfortunate and Rare Cause of Chronic Nausea and Vomiting: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Author / Creator:Dasu, Neethi R. ; Blair, Brian ; Suga, Herman ; Smith, Colin ; Adkins, Christopher
Publisher:New York: Wolters Kluwer Health Medical Research, Lippincott Williams & Wilkins
Journal title:The American journal of gastroenterology, 2021-10, Vol.116 (1), p.S1276-S1276
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Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit
Author / Creator:Lancaster, Makayla S ; Graham, Brett H
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-06, Vol.24 (13), p.10725
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Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
Author / Creator:Halter, J ; Schüpbach, W M M ; Casali, C ; Elhasid, R ; Fay, K ; Hammans, S ; Illa, I ; Kappeler, L ; Krähenbühl, S ; Lehmann, T ; Mandel, H ; Marti, R ; Mattle, H ; Orchard, K ; Savage, D ; Sue, C M ; Valcarcel, D ; Gratwohl, A ; Hirano, M
Publisher:London: Nature Publishing Group UK
Journal title:Bone marrow transplantation (Basingstoke), 2011-03, Vol.46 (3), p.330-337
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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
Author / Creator:Alenezi, Ahmad F ; Almelahi, Mariam A ; Fekih-Romdhana, Feten ; Jahrami, Haitham A
Publisher:London: BioMed Central Ltd
Journal title:Journal of medical case reports, 2022-10, Vol.16 (1), p.1-361, Article 361
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Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
Author / Creator:Jackson, Christopher Benjamin ; Nuoffer, Jean-Marc ; Hahn, Dagmar ; Prokisch, Holger ; Haberberger, Birgit ; Gautschi, Matthias ; Häberli, Annemarie ; Gallati, Sabina ; Schaller, André
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-03, Vol.51 (3), p.170-175
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A rare cause of anejaculation: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome: case report
Author / Creator:Unal, Selman
Publisher:England
Journal title:International journal of impotence research, 2023-12
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L-arginine and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS): a systematic review
Author / Creator:Stefanetti, Renae ; Ng, Yi Shiau ; Errington, Linda ; Dlay, Jaspreet ; Turnbull, Doug ; McFarland, Robert ; Gorman, Grainne
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2022-06, Vol.93 (6), p.A97-A97
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An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy
Author / Creator:Kareem, Shabana ; Mathai, Reemy Sara
Publisher:India: Wolters Kluwer - Medknow
Journal title:Archives of Medicine and Health Sciences, 2024-05, Vol.12 (2), p.269-271
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Showing 1 to 20 of 1,289 results

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TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy

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Stem cell‐derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy

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Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

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Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

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Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

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Mic60 is essential to maintain mitochondrial integrity and to prevent encephalomyopathy

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Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy

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Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

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Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

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Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

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Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

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Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)- a cross-sectional study

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S3091 An Unfortunate and Rare Cause of Chronic Nausea and Vomiting: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

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Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit

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Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

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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

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Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

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A rare cause of anejaculation: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome: case report

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L-arginine and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS): a systematic review

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An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy

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