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 *

140 related articles for article (PubMed ID: 38098475)

  • 1. Prominent muscle involvement in a familial form of mitochondrial disease due to a
    Rimoldi M; Magri F; Antognozzi S; Ripolone M; Salani S; Piga D; Bertolasi L; Zanotti S; Ciscato P; Fortunato F; Moggio M; Corti S; Comi GP; Ronchi D
    Front Genet; 2023; 14():1278572. PubMed ID: 38098475
    [TBL] [Abstract][Full Text] [Related]  

  • 2. COX deficiency and leukoencephalopathy due to a novel homozygous
    Hedberg-Oldfors C; Darin N; Thomsen C; Lindberg C; Oldfors A
    Neurol Genet; 2020 Aug; 6(4):e464. PubMed ID: 32637636
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome
    Chapleau A; Boucher RM; Pastinen T; Thiffault I; Gould PV; Bernard G
    Front Cell Neurosci; 2023; 17():1216487. PubMed ID: 37601282
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Knockdown of
    Brischigliaro M; Corrà S; Tregnago C; Fernandez-Vizarra E; Zeviani M; Costa R; De Pittà C
    Front Physiol; 2019; 10():1143. PubMed ID: 31555154
    [TBL] [Abstract][Full Text] [Related]  

  • 5. COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.
    Martinez Lyons A; Ardissone A; Reyes A; Robinson AJ; Moroni I; Ghezzi D; Fernandez-Vizarra E; Zeviani M
    J Med Genet; 2016 Dec; 53(12):846-849. PubMed ID: 27683825
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
    Kytövuori L; Kärppä M; Tuominen H; Uusimaa J; Saari M; Hinttala R; Majamaa K
    BMC Neurol; 2017 May; 17(1):96. PubMed ID: 28521807
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.
    Debray FG; Seneca S; Gonce M; Vancampenhaut K; Bianchi E; Boemer F; Weekers L; Smet J; Van Coster R
    Mitochondrion; 2014 Jul; 17():101-5. PubMed ID: 24956508
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.
    Lu Y; Zhao D; Yao S; Wu S; Hong D; Wang Q; Liu J; Smeitink JAM; Yuan Y; Wang Z
    J Neurol Sci; 2017 Aug; 379():137-143. PubMed ID: 28716227
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.
    Kollberg G; Moslemi AR; Lindberg C; Holme E; Oldfors A
    J Neuropathol Exp Neurol; 2005 Feb; 64(2):123-8. PubMed ID: 15751226
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
    Dohrn MF; Heller C; Zengeler D; Obermaier CD; Biskup S; Weis J; Nikolin S; Claeys KG; Schöne U; Beijer D; Winter N; Achenbach P; Gess B; Schulz JB; Mulahasanovic L
    Neurol Res Pract; 2022 Feb; 4(1):5. PubMed ID: 35101151
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The expanding clinical spectrum of mitochondrial diseases.
    De Vivo DC
    Brain Dev; 1993; 15(1):1-22. PubMed ID: 8338207
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency.
    Wada H; Woo M; Nishio H; Nagaki S; Yanagawa H; Imamura A; Yokoyama S; Ohbayashi C; Matsuo M; Itoh H; Nakamura H
    Brain Dev; 1996; 18(4):263-8. PubMed ID: 8879644
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.
    Lamperti C; Diodato D; Lamantea E; Carrara F; Ghezzi D; Mereghetti P; Rizzi R; Zeviani M
    Neuromuscul Disord; 2012 Nov; 22(11):990-4. PubMed ID: 22832341
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
    Nimmo GAM; Ejaz R; Cordeiro D; Kannu P; Mercimek-Andrews S
    Am J Med Genet A; 2018 Feb; 176(2):399-403. PubMed ID: 29193829
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report].
    Hamano H; Ohta T; Takekawa Y; Kouda K; Shinohara Y
    Rinsho Shinkeigaku; 1997 Oct; 37(10):917-22. PubMed ID: 9490904
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.
    Hanna MG; Nelson IP; Rahman S; Lane RJ; Land J; Heales S; Cooper MJ; Schapira AH; Morgan-Hughes JA; Wood NW
    Am J Hum Genet; 1998 Jul; 63(1):29-36. PubMed ID: 9634511
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.
    Blakely EL; Trip SA; Swalwell H; He L; Wren DR; Rich P; Turnbull DM; Omer SE; Taylor RW
    Arch Neurol; 2009 Mar; 66(3):399-402. PubMed ID: 19273760
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.