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Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology
Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology
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Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology

Mancuso, M. ; Arnold, M. ; Bersano, A. ; Burlina, A. ; Chabriat, H. ; Debette, S. ; Enzinger, C. ; Federico, A. ; Filla, A. ; Finsterer, J. ; Hunt, D. ; Lesnik Oberstein, S. ; Tournier‐Lasserve, E. ; Markus, H. S.

European journal of neurology, 2020-06, Vol.27 (6), p.909-927 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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Controlled Clinical Trial of Dichloroacetate for Treatment of Congenital Lactic Acidosis in Children
Controlled Clinical Trial of Dichloroacetate for Treatment of Congenital Lactic Acidosis in Children
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Controlled Clinical Trial of Dichloroacetate for Treatment of Congenital Lactic Acidosis in Children

Stacpoole, Peter W ; Kerr, Douglas S ; Barnes, Carie ; Bunch, S. Terri ; Carney, Paul R ; Fennell, Eileen M ; Felitsyn, Natalia M ; Gilmore, Robin L ; Greer, Melvin ; Henderson, George N ; Hutson, Alan D ; Neiberger, Richard E ; O'Brien, Ralph G ; Perkins, Leigh Ann ; Quisling, Ronald G ; Shroads, Albert L ; Shuster, Jonathan J ; Silverstein, Janet H ; Theriaque, Douglas W ; Valenstein, Edward

Pediatrics (Evanston), 2006-05, Vol.117 (5), p.1519-1531 [Periódico revisado por pares]

Elk Grove Village, IL: Am Acad Pediatrics

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3
Altered Dynamic Functional Connectivity in Patients With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke‐Like Episodes (MELAS) at Acute and Chronic Stages: Shared and Specific Brain Connectivity Abnormalities
Altered Dynamic Functional Connectivity in Patients With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke‐Like Episodes (MELAS) at Acute and Chronic Stages: Shared and Specific Brain Connectivity Abnormalities
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Altered Dynamic Functional Connectivity in Patients With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke‐Like Episodes (MELAS) at Acute and Chronic Stages: Shared and Specific Brain Connectivity Abnormalities

Wang, Rong ; Sun, Chong ; Lin, Jie ; Chen, Ne ; Hu, Bin ; Liu, Xueling ; Geng, Daoying ; Yang, Liqin ; Li, Yuxin

Journal of magnetic resonance imaging, 2021-02, Vol.53 (2), p.427-436 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Evaluation of Long-term Treatment of Children With Congenital Lactic Acidosis With Dichloroacetate
Evaluation of Long-term Treatment of Children With Congenital Lactic Acidosis With Dichloroacetate
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Evaluation of Long-term Treatment of Children With Congenital Lactic Acidosis With Dichloroacetate

Stacpoole, Peter W ; Gilbert, Lesa R ; Neiberger, Richard E ; Carney, Paul R ; Valenstein, Edward ; Theriaque, Douglas W ; Shuster, Jonathan J

Pediatrics (Evanston), 2008-05, Vol.121 (5), p.e1223-e1228 [Periódico revisado por pares]

United States: Am Acad Pediatrics

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5
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Benincá, Cristiane ; Zanette, Vanessa ; Brischigliaro, Michele ; Johnson, Mark ; Reyes, Aurelio ; Valle, Daniel Almeida do ; J. Robinson, Alan ; Degiorgi, Andrea ; Yeates, Anna ; Telles, Bruno Augusto ; Prudent, Julien ; Baruffini, Enrico ; S. F. Santos, Mara Lucia ; R. de Souza, Ricardo Lehtonen ; Fernandez-Vizarra, Erika ; J. Whitworth, Alexander ; Zeviani, Massimo

Journal of medical genetics, 2021-03, Vol.58 (3), p.155-167 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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6
Lactic acidosis caused by repressed lactate dehydrogenase subunit B expression down-regulates mitochondrial oxidative phosphorylation via the pyruvate dehydrogenase (PDH)–PDH kinase axis
Lactic acidosis caused by repressed lactate dehydrogenase subunit B expression down-regulates mitochondrial oxidative phosphorylation via the pyruvate dehydrogenase (PDH)–PDH kinase axis
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Lactic acidosis caused by repressed lactate dehydrogenase subunit B expression down-regulates mitochondrial oxidative phosphorylation via the pyruvate dehydrogenase (PDH)–PDH kinase axis

Hong, Sun Mi ; Lee, Young-Kyoung ; Park, Imkyong ; Kwon, So Mee ; Min, Seongki ; Yoon, Gyesoon

The Journal of biological chemistry, 2019-05, Vol.294 (19), p.7810-7820 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis
Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis
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Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

Boutoual, Rachid ; Meseguer, Salvador ; Villarroya, Magda ; Martín-Hernández, Elena ; Errami, Mohammed ; Martín, Miguel A ; Casado, Marta ; Armengod, M-Eugenia

Scientific reports, 2018-01, Vol.8 (1), p.1163-18, Article 1163 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay
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Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay

Wei, Xiujuan ; Du, Miaomiao ; Xie, Jie ; Luo, Ting ; Zhou, Yan ; Zhang, Kun ; Li, Jin ; Chen, Deyu ; Xu, Pu ; Jia, Manli ; Zhou, Huaibin ; Fang, Hezhi ; Lyu, Jianxin ; Yang, Yanling

Journal of human genetics, 2020-03, Vol.65 (3), p.231-240 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly
Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly
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Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly

Zhang, Shan ; Reljić, Boris ; Liang, Chao ; Kerouanton, Baptiste ; Francisco, Joel Celio ; Peh, Jih Hou ; Mary, Camille ; Jagannathan, Narendra Suhas ; Olexiouk, Volodimir ; Tang, Claire ; Fidelito, Gio ; Nama, Srikanth ; Cheng, Ruey-Kuang ; Wee, Caroline Lei ; Wang, Loo Chien ; Duek Roggli, Paula ; Sampath, Prabha ; Lane, Lydie ; Petretto, Enrico ; Sobota, Radoslaw M ; Jesuthasan, Suresh ; Tucker-Kellogg, Lisa ; Reversade, Bruno ; Menschaert, Gerben ; Sun, Lei ; Stroud, David A ; Ho, Lena

Nature communications, 2020-03, Vol.11 (1), p.1312-1312, Article 1312 [Periódico revisado por pares]

England: Nature Publishing Group

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Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming
Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming
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Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming

Adam, Clément ; Paolini, Léa ; Gueguen, Naïg ; Mabilleau, Guillaume ; Preisser, Laurence ; Blanchard, Simon ; Pignon, Pascale ; Manero, Florence ; Le Mao, Morgane ; Morel, Alain ; Reynier, Pascal ; Beauvillain, Céline ; Delneste, Yves ; Procaccio, Vincent ; Jeannin, Pascale

Nature communications, 2021-12, Vol.12 (1), p.7115-7115, Article 7115 [Periódico revisado por pares]

England: Nature Publishing Group

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