These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 31155743)

  • 1. COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
    Inoue M; Uchino S; Iida A; Noguchi S; Hayashi S; Takahashi T; Fujii K; Komaki H; Takeshita E; Nonaka I; Okada Y; Yoshizawa T; Van Lommel L; Schuit F; Goto YI; Mimaki M; Nishino I
    Ann Neurol; 2019 Aug; 86(2):193-202. PubMed ID: 31155743
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
    Ronchi D; Garbellini M; Magri F; Menni F; Meneri M; Bedeschi MF; Dilena R; Cecchetti V; Picciolli I; Furlan F; Polimeni V; Salani S; Pezzoli L; Fortunato F; Bellini M; Piga D; Ripolone M; Zanotti S; Napoli L; Ciscato P; Sciacco M; Mangili G; Mosca F; Corti S; Iascone M; Comi GP
    Eur J Hum Genet; 2023 Dec; 31(12):1414-1420. PubMed ID: 37468577
    [TBL] [Abstract][Full Text] [Related]  

  • 3. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
    Oláhová M; Hardy SA; Hall J; Yarham JW; Haack TB; Wilson WC; Alston CL; He L; Aznauryan E; Brown RM; Brown GK; Morris AA; Mundy H; Broomfield A; Barbosa IA; Simpson MA; Deshpande C; Moeslinger D; Koch J; Stettner GM; Bonnen PE; Prokisch H; Lightowlers RN; McFarland R; Chrzanowska-Lightowlers ZM; Taylor RW
    Brain; 2015 Dec; 138(Pt 12):3503-19. PubMed ID: 26510951
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
    Uusimaa J; Jungbluth H; Fratter C; Crisponi G; Feng L; Zeviani M; Hughes I; Treacy EP; Birks J; Brown GK; Sewry CA; McDermott M; Muntoni F; Poulton J
    J Med Genet; 2011 Oct; 48(10):660-668. PubMed ID: 21931168
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.
    Diaz F; Thomas CK; Garcia S; Hernandez D; Moraes CT
    Hum Mol Genet; 2005 Sep; 14(18):2737-48. PubMed ID: 16103131
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
    Agostino A; Invernizzi F; Tiveron C; Fagiolari G; Prelle A; Lamantea E; Giavazzi A; Battaglia G; Tatangelo L; Tiranti V; Zeviani M
    Hum Mol Genet; 2003 Feb; 12(4):399-413. PubMed ID: 12566387
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
    Vondrackova A; Vesela K; Hansikova H; Docekalova DZ; Rozsypalova E; Zeman J; Tesarova M
    J Hum Genet; 2012 Jul; 57(7):442-8. PubMed ID: 22592081
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.
    Coulbault L; Herlicoviez D; Chapon F; Read MH; Penniello MJ; Reynier P; Fayet G; Lombès A; Jauzac P; Allouche S
    Biochem Biophys Res Commun; 2005 Apr; 329(3):1152-4. PubMed ID: 15752774
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
    Carroll CJ; Isohanni P; Pöyhönen R; Euro L; Richter U; Brilhante V; Götz A; Lahtinen T; Paetau A; Pihko H; Battersby BJ; Tyynismaa H; Suomalainen A
    J Med Genet; 2013 Mar; 50(3):151-9. PubMed ID: 23315540
    [TBL] [Abstract][Full Text] [Related]  

  • 10.
    Thompson K; Mai N; Oláhová M; Scialó F; Formosa LE; Stroud DA; Garrett M; Lax NZ; Robertson FM; Jou C; Nascimento A; Ortez C; Jimenez-Mallebrera C; Hardy SA; He L; Brown GK; Marttinen P; McFarland R; Sanz A; Battersby BJ; Bonnen PE; Ryan MT; Chrzanowska-Lightowlers ZM; Lightowlers RN; Taylor RW
    EMBO Mol Med; 2018 Nov; 10(11):. PubMed ID: 30201738
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
    Szklarczyk R; Wanschers BF; Nijtmans LG; Rodenburg RJ; Zschocke J; Dikow N; van den Brand MA; Hendriks-Franssen MG; Gilissen C; Veltman JA; Nooteboom M; Koopman WJ; Willems PH; Smeitink JA; Huynen MA; van den Heuvel LP
    Hum Mol Genet; 2013 Feb; 22(4):656-67. PubMed ID: 23125284
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.
    Yang H; Brosel S; Acin-Perez R; Slavkovich V; Nishino I; Khan R; Goldberg IJ; Graziano J; Manfredi G; Schon EA
    Hum Mol Genet; 2010 Jan; 19(1):170-80. PubMed ID: 19837698
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.
    Galvão de Oliveira M; Tengan C; Micheletti C; Ramos de Macedo P; Soares Pinho Cernach MC; Cavole TR; de França Basto M; Filho JS; Virmond LA; Milanezi F; Nakano V; Falconi A; Perrone E
    Eur J Med Genet; 2021 May; 64(5):104195. PubMed ID: 33746038
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
    Dong HL; Ma Y; Yu H; Wei Q; Li JQ; Liu GL; Li HF; Chen L; Chen DF; Bai G; Wu ZY
    Brain; 2021 Sep; 144(8):2457-2470. PubMed ID: 33751098
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.
    Figarella-Branger D; Pellissier JF; Scheiner C; Wernert F; Desnuelle C
    J Neurol Sci; 1992 Mar; 108(1):105-13. PubMed ID: 1320661
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Respiratory Chain Complex Disorganization Impairs Mitochondrial and Cellular Integrity: Phenotypic Variation in Cytochrome c Oxidase Deficiency.
    Hatakeyama H; Goto YI
    Am J Pathol; 2017 Jan; 187(1):110-121. PubMed ID: 27855277
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
    Jaksch M; Hofmann S; Kleinle S; Liechti-Gallati S; Pongratz DE; Müller-Höcker J; Jedele KB; Meitinger T; Gerbitz KD
    J Med Genet; 1998 Nov; 35(11):895-900. PubMed ID: 9832034
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.
    Roos S; Hedberg-Oldfors C; Visuttijai K; Stein M; Kollberg G; Elíasdóttir Ó; Lindberg C; Darin N; Oldfors A
    Brain Pathol; 2022 Jul; 32(4):e13038. PubMed ID: 34806237
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
    Kovářová N; Cížková Vrbacká A; Pecina P; Stránecký V; Pronicka E; Kmoch S; Houštěk J
    Biochim Biophys Acta; 2012 Jul; 1822(7):1114-24. PubMed ID: 22465034
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cytochrome c oxidase deficiency in the muscle of patients with zidovudine myopathy is segmental and affects both mitochondrial DNA- and nuclear DNA-encoded subunits.
    Yerroum M; Pham-Dang C; Authier FJ; Monnet I; Gherardi R; Chariot P
    Acta Neuropathol; 2000 Jul; 100(1):82-6. PubMed ID: 10912924
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.