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: 38098475)

  • 21. [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]  

  • 22. 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]  

  • 23. 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]  

  • 24. [A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions].
    Tanaka K; Tateishi T; Kawamura N; Ohyagi Y; Urata M; Kira J
    Rinsho Shinkeigaku; 2013; 53(3):205-11. PubMed ID: 23524600
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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; 141(8):2289-2298. PubMed ID: 30010796
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in
    Ben-Shabat I; Kvarnung M; Sperker W; Bruhn H; Wredenberg A; Wibom R; Nennesmo I; Engvall M; Paucar M
    Neurol Genet; 2023 Dec; 9(6):e200100. PubMed ID: 38035175
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.
    Bartsakoulia M; Pyle A; Troncoso-Chandía D; Vial-Brizzi J; Paz-Fiblas MV; Duff J; Griffin H; Boczonadi V; Lochmüller H; Kleinle S; Chinnery PF; Grünert S; Kirschner J; Eisner V; Horvath R
    Hum Mol Genet; 2018 Apr; 27(7):1186-1195. PubMed ID: 29361167
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
    Melchionda L; Haack TB; Hardy S; Abbink TE; Fernandez-Vizarra E; Lamantea E; Marchet S; Morandi L; Moggio M; Carrozzo R; Torraco A; Diodato D; Strom TM; Meitinger T; Tekturk P; Yapici Z; Al-Murshedi F; Stevens R; Rodenburg RJ; Lamperti C; Ardissone A; Moroni I; Uziel G; Prokisch H; Taylor RW; Bertini E; van der Knaap MS; Ghezzi D; Zeviani M
    Am J Hum Genet; 2014 Sep; 95(3):315-25. PubMed ID: 25175347
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.
    Peverelli L; Gold CA; Naini AB; Tanji K; Akman HO; Hirano M; Dimauro S
    Muscle Nerve; 2014 Aug; 50(2):292-5. PubMed ID: 24711008
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [MNGIE syndrome in 2 siblings].
    Debouverie M; Wagner M; Ducrocq X; Grignon Y; Mousson B; Weber M
    Rev Neurol (Paris); 1997 Oct; 153(10):547-53. PubMed ID: 9684018
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.
    Filosto M; Lanzi G; Nesti C; Vielmi V; Marchina E; Galvagni A; Giliani S; Santorelli FM; Padovani A
    Mol Genet Metab Rep; 2016 Mar; 6():70-3. PubMed ID: 27014581
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Cytochrome c oxidase deficiency.
    DiMauro S; Lombes A; Nakase H; Mita S; Fabrizi GM; Tritschler HJ; Bonilla E; Miranda AF; DeVivo DC; Schon EA
    Pediatr Res; 1990 Nov; 28(5):536-41. PubMed ID: 2175026
    [TBL] [Abstract][Full Text] [Related]  

  • 33. APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
    Signes A; Cerutti R; Dickson AS; Benincá C; Hinchy EC; Ghezzi D; Carrozzo R; Bertini E; Murphy MP; Nathan JA; Viscomi C; Fernandez-Vizarra E; Zeviani M
    EMBO Mol Med; 2019 Jan; 11(1):. PubMed ID: 30552096
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Forty-six-year-old woman with progressive external ophthalmoplegia and limb weakness].
    Yamamoto T; Gotoh K; Sato T; Shiotsu H; Kuwabara N; Nagaoka M; Mizuno Y
    No To Shinkei; 1993 Jan; 45(1):85-92. PubMed ID: 8476658
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. [Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: histological and biochemical analysis].
    Suzuki M; Sugie H; Tsurui S; Miyamoto R; Sugie Y; Igarashi Y; Kaku H; Fukami S
    No To Hattatsu; 1989 Nov; 21(6):543-9. PubMed ID: 2553079
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Progressive external ophthalmoplegia associated with novel MT-TN mutations.
    Visuttijai K; Hedberg-Oldfors C; Lindgren U; Nordström S; Elíasdóttir Ó; Lindberg C; Oldfors A
    Acta Neurol Scand; 2021 Jan; 143(1):103-108. PubMed ID: 32869280
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.
    Spiegel R; Soiferman D; Shaag A; Shalev S; Elpeleg O; Saada A
    JIMD Rep; 2017; 33():55-60. PubMed ID: 27539578
    [TBL] [Abstract][Full Text] [Related]  

  • 39.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.