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 *

304 related articles for article (PubMed ID: 15576045)

  • 41. Mitochondrial respiratory chain disorders in the Old Order Amish population.
    Ghaloul-Gonzalez L; Goldstein A; Walsh Vockley C; Dobrowolski SF; Biery A; Irani A; Ibarra J; Morton DH; Mohsen AW; Vockley J
    Mol Genet Metab; 2016 Aug; 118(4):296-303. PubMed ID: 27344355
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
    Loeffen J; Elpeleg O; Smeitink J; Smeets R; Stöckler-Ipsiroglu S; Mandel H; Sengers R; Trijbels F; van den Heuvel L
    Ann Neurol; 2001 Feb; 49(2):195-201. PubMed ID: 11220739
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
    Lebon S; Minai L; Chretien D; Corcos J; Serre V; Kadhom N; Steffann J; Pauchard JY; Munnich A; Bonnefont JP; Rötig A
    Mol Genet Metab; 2007; 92(1-2):104-8. PubMed ID: 17604671
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
    Fassone E; Taanman JW; Hargreaves IP; Sebire NJ; Cleary MA; Burch M; Rahman S
    J Med Genet; 2011 Oct; 48(10):691-7. PubMed ID: 21931170
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
    Potluri P; Davila A; Ruiz-Pesini E; Mishmar D; O'Hearn S; Hancock S; Simon M; Scheffler IE; Wallace DC; Procaccio V
    Mol Genet Metab; 2009 Apr; 96(4):189-95. PubMed ID: 19185523
    [TBL] [Abstract][Full Text] [Related]  

  • 46. TMEM70 deficiency: long-term outcome of 48 patients.
    Magner M; Dvorakova V; Tesarova M; Mazurova S; Hansikova H; Zahorec M; Brennerova K; Bzduch V; Spiegel R; Horovitz Y; Mandel H; Eminoğlu FT; Mayr JA; Koch J; Martinelli D; Bertini E; Konstantopoulou V; Smet J; Rahman S; Broomfield A; Stojanović V; Dionisi-Vici C; van Coster R; Morava E; Sperl W; Zeman J; Honzik T
    J Inherit Metab Dis; 2015 May; 38(3):417-26. PubMed ID: 25326274
    [TBL] [Abstract][Full Text] [Related]  

  • 47. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
    Yatsuka Y; Kishita Y; Formosa LE; Shimura M; Nozaki F; Fujii T; Nitta KR; Ohtake A; Murayama K; Ryan MT; Okazaki Y
    Clin Genet; 2020 Aug; 98(2):155-165. PubMed ID: 32385911
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.
    Xu B; Li X; Du M; Zhou C; Fang H; Lyu J; Yang Y
    J Hum Genet; 2017 Feb; 62(2):291-297. PubMed ID: 27761019
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
    Gerards M; Sluiter W; van den Bosch BJ; de Wit LE; Calis CM; Frentzen M; Akbari H; Schoonderwoerd K; Scholte HR; Jongbloed RJ; Hendrickx AT; de Coo IF; Smeets HJ
    J Med Genet; 2010 Aug; 47(8):507-12. PubMed ID: 19542079
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
    Lake NJ; Webb BD; Stroud DA; Richman TR; Ruzzenente B; Compton AG; Mountford HS; Pulman J; Zangarelli C; Rio M; Boddaert N; Assouline Z; Sherpa MD; Schadt EE; Houten SM; Byrnes J; McCormick EM; Zolkipli-Cunningham Z; Haude K; Zhang Z; Retterer K; Bai R; Calvo SE; Mootha VK; Christodoulou J; Rötig A; Filipovska A; Cristian I; Falk MJ; Metodiev MD; Thorburn DR
    Am J Hum Genet; 2017 Aug; 101(2):239-254. PubMed ID: 28777931
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy.
    Shehata BM; Cundiff CA; Lee K; Sabharwal A; Lalwani MK; Davis AK; Agrawal V; Sivasubbu S; Iannucci GJ; Gibson G
    Am J Med Genet A; 2015 Sep; 167A(9):2114-21. PubMed ID: 25921236
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Complex I deficiency: clinical features, biochemistry and molecular genetics.
    Fassone E; Rahman S
    J Med Genet; 2012 Sep; 49(9):578-90. PubMed ID: 22972949
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
    Taylor RW; Morris AA; Hutchinson M; Turnbull DM
    Eur J Hum Genet; 2002 Feb; 10(2):141-4. PubMed ID: 11938446
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD
    Iannetti EF; Smeitink JAM; Willems PHGM; Beyrath J; Koopman WJH
    Cell Death Dis; 2018 Nov; 9(11):1135. PubMed ID: 30429455
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Clinical and laboratory findings in referrals for mitochondrial DNA analysis.
    Lamont PJ; Surtees R; Woodward CE; Leonard JV; Wood NW; Harding AE
    Arch Dis Child; 1998 Jul; 79(1):22-7. PubMed ID: 9771247
    [TBL] [Abstract][Full Text] [Related]  

  • 56. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.
    Alston CL; Morak M; Reid C; Hargreaves IP; Pope SA; Land JM; Heales SJ; Horvath R; Mundy H; Taylor RW
    Neuromuscul Disord; 2010 Feb; 20(2):131-5. PubMed ID: 20018511
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.
    Blakely EL; Rennie KJ; Jones L; Elstner M; Chrzanowska-Lightowlers ZM; White CB; Shield JP; Pilz DT; Turnbull DM; Poulton J; Taylor RW
    Pediatr Res; 2006 Mar; 59(3):440-4. PubMed ID: 16492986
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
    Assereto S; Robbiano A; Di Rocco M; Rossi A; Cassandrini D; Panicucci C; Brigati G; Biancheri R; Bruno C; Minetti C; Trucks H; Sander T; Zara F; Gazzerro E
    Clin Genet; 2014 Jul; 86(1):99-101. PubMed ID: 24020637
    [No Abstract]   [Full Text] [Related]  

  • 59. Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase.
    Hofhaus G; Attardi G
    Mol Cell Biol; 1995 Feb; 15(2):964-74. PubMed ID: 7823960
    [TBL] [Abstract][Full Text] [Related]  

  • 60. NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4
    Adjobo-Hermans MJW; de Haas R; Willems PHGM; Wojtala A; van Emst-de Vries SE; Wagenaars JA; van den Brand M; Rodenburg RJ; Smeitink JAM; Nijtmans LG; Sazanov LA; Wieckowski MR; Koopman WJH
    Biochim Biophys Acta Bioenerg; 2020 Aug; 1861(8):148213. PubMed ID: 32335026
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.