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Journal Abstract Search

152 related items for PubMed ID: 37565517

  • 1. Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene.
    Gkiourtzis N, Tramma D, Papadopoulou-Legbelou K, Moutafi M, Evangeliou A.
    Am J Med Genet A; 2023 Dec; 191(12):2843-2849. PubMed ID: 37565517
    [Abstract] [Full Text] [Related]

  • 2. Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
    Aggarwal A, Pillai NR, Billington CJ, Schema L, Berry SA.
    Am J Med Genet A; 2022 Apr; 188(4):1239-1244. PubMed ID: 34905296
    [Abstract] [Full Text] [Related]

  • 3. A novel complex neurological phenotype due to a homozygous mutation in FDX2.
    Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F.
    Brain; 2018 Aug 01; 141(8):2289-2298. PubMed ID: 30010796
    [Abstract] [Full Text] [Related]

  • 4. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
    Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O.
    Eur J Hum Genet; 2014 Jul 01; 22(7):902-6. PubMed ID: 24281368
    [Abstract] [Full Text] [Related]

  • 5. Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
    Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM.
    Am J Med Genet A; 2022 Jul 01; 188(7):2226-2230. PubMed ID: 35393742
    [Abstract] [Full Text] [Related]

  • 6. Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.
    Wongkittichote P, Pantano C, He M, Hong X, Demczko MM.
    JIMD Rep; 2024 Mar 01; 65(2):102-109. PubMed ID: 38444577
    [Abstract] [Full Text] [Related]

  • 7. Novel biallelic variants in MSTO1 associated with mitochondrial myopathy.
    Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R.
    Cold Spring Harb Mol Case Stud; 2019 Dec 01; 5(6):. PubMed ID: 31604776
    [Abstract] [Full Text] [Related]

  • 8. Exertional rhabdomyolysis, profound lactic acidosis, and acute kidney injury in a young boy: Questions.
    Tseng MH, Hsia SH, Chi CS, Lin JL, Lin JJ, Lin SH.
    Pediatr Nephrol; 2016 Oct 01; 31(10):1605-6. PubMed ID: 26156708
    [No Abstract] [Full Text] [Related]

  • 9. A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
    Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S.
    Am J Med Genet A; 2013 Sep 01; 161A(9):2334-8. PubMed ID: 23918765
    [Abstract] [Full Text] [Related]

  • 10. Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
    Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S.
    Intern Med; 2017 Sep 01; 56(1):95-99. PubMed ID: 28050007
    [Abstract] [Full Text] [Related]

  • 11. Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
    Zeharia A, Fischel-Ghodsian N, Casas K, Bykhocskaya Y, Tamari H, Lev D, Mimouni M, Lerman-Sagie T.
    J Child Neurol; 2005 May 01; 20(5):449-52. PubMed ID: 15971356
    [Abstract] [Full Text] [Related]

  • 12. Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
    Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS.
    JAMA Neurol; 2017 Jun 01; 74(6):686-694. PubMed ID: 28395030
    [Abstract] [Full Text] [Related]

  • 13. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.
    Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F.
    Mol Genet Metab; 2014 Nov 01; 113(3):207-12. PubMed ID: 25037980
    [Abstract] [Full Text] [Related]

  • 14. [Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene].
    Tian Y, Shi Z, Hou C, Li W, Zhu H, Li X, Chen W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr 10; 39(4):417-420. PubMed ID: 35446979
    [Abstract] [Full Text] [Related]

  • 15. A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
    Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N.
    J Hum Genet; 2014 Apr 10; 59(4):229-32. PubMed ID: 24430573
    [Abstract] [Full Text] [Related]

  • 16. Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.
    Li K, Jin R, Wu X.
    Eur J Med Genet; 2020 Jan 10; 63(1):103623. PubMed ID: 30684668
    [Abstract] [Full Text] [Related]

  • 17. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report.
    Gunawardena K, Praveenan S, Dissanayake VHW, Ratnayake P.
    J Med Case Rep; 2024 Sep 04; 18(1):420. PubMed ID: 39252049
    [Abstract] [Full Text] [Related]

  • 18. A MELAS Patient Developing Fatal Acute Renal Failure with Lactic Acidosis and Rhabdomyolysis.
    Ito H, Fukutake S, Odake S, Okeda R, Tokunaga O, Kamei T.
    Intern Med; 2020 Nov 01; 59(21):2773-2776. PubMed ID: 32641653
    [Abstract] [Full Text] [Related]

  • 19. High-output heart failure in mitochondrial myopathy: a fulminant form with severe lactic acidosis and rhabdomyolysis.
    Hirose Y, Miida T, Yoshida K, Kimura H, Oda H, Toeda T, Higuma N.
    Intern Med; 1993 Oct 01; 32(10):798-801. PubMed ID: 8012076
    [Abstract] [Full Text] [Related]

  • 20. Continuous venovenous hemodiafiltration for life-threatening mitochondrial myopathy with lactic acidosis and rhabdomyolysis.
    Inoue S, Nagayama M, Aoki H, Tamura K, Suzuki Y, Morita S, Nakagawa Y, Yamamoto I, Inokuchi S.
    J Intensive Care Med; 2007 Oct 01; 22(4):240-4. PubMed ID: 17722368
    [Abstract] [Full Text] [Related]

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