BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 15168109)

  • 1. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
    Morava E; Sengers R; Ter Laak H; Van Den Heuvel L; Janssen A; Trijbels F; Cruysberg H; Boelen C; Smeitink J
    Eur J Pediatr; 2004 Aug; 163(8):467-71. PubMed ID: 15168109
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.
    Jordens EZ; Palmieri L; Huizing M; van den Heuvel LP; Sengers RC; Dörner A; Ruitenbeek W; Trijbels FJ; Valsson J; Sigfusson G; Palmieri F; Smeitink JA
    Ann Neurol; 2002 Jul; 52(1):95-9. PubMed ID: 12112053
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts.
    Atiq M; Iqbal S; Ibrahim S
    Indian J Pediatr; 2004 May; 71(5):437-40. PubMed ID: 15163876
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect.
    Bakker HD; Scholte HR; Van den Bogert C; Ruitenbeek W; Jeneson JA; Wanders RJ; Abeling NG; Dorland B; Sengers RC; Van Gennip AH
    Pediatr Res; 1993 Apr; 33(4 Pt 1):412-7. PubMed ID: 8479824
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndrome.
    Robbins RC; Bernstein D; Berry GJ; VanMeurs KP; Frankel LR; Reitz BA
    Ann Thorac Surg; 1995 Nov; 60(5):1425-7. PubMed ID: 8526648
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
    Allali S; Dorboz I; Samaan S; Slama A; Rambaud C; Boespflug-Tanguy O; Sarret C
    Metab Brain Dis; 2017 Dec; 32(6):2149-2154. PubMed ID: 28868593
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis.
    van Ekeren GJ; Stadhouders AM; Egberink GJ; Sengers RC; Daniëls O; Kubat K
    Virchows Arch A Pathol Anat Histopathol; 1987; 412(1):47-52. PubMed ID: 3120403
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.
    Echaniz-Laguna A; Chassagne M; Ceresuela J; Rouvet I; Padet S; Acquaviva C; Nataf S; Vinzio S; Bozon D; Mousson de Camaret B
    J Med Genet; 2012 Feb; 49(2):146-50. PubMed ID: 22187496
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
    Palmieri L; Alberio S; Pisano I; Lodi T; Meznaric-Petrusa M; Zidar J; Santoro A; Scarcia P; Fontanesi F; Lamantea E; Ferrero I; Zeviani M
    Hum Mol Genet; 2005 Oct; 14(20):3079-88. PubMed ID: 16155110
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Long term follow-up in two siblings with Sengers syndrome: Case report.
    Panicucci C; Schiaffino MC; Nesti C; Derchi M; Trocchio G; Severino M; Stagnaro N; Priolo E; Zara F; Santorelli FM; Bruno C
    Ital J Pediatr; 2022 Oct; 48(1):180. PubMed ID: 36253788
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Syndrome of mitochondrial myopathy of the heart and skeletal muscle, congenital cataract and lactic acidosis.
    Liao SL; Huang SF; Lin JL; Lai SH; Chou YH; Kuo CY
    Acta Paediatr Taiwan; 2003; 44(6):360-4. PubMed ID: 14983659
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
    Haghighi A; Haack TB; Atiq M; Mottaghi H; Haghighi-Kakhki H; Bashir RA; Ahting U; Feichtinger RG; Mayr JA; Rötig A; Lebre AS; Klopstock T; Dworschak A; Pulido N; Saeed MA; Saleh-Gohari N; Holzerova E; Chinnery PF; Taylor RW; Prokisch H
    Orphanet J Rare Dis; 2014 Aug; 9():119. PubMed ID: 25208612
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neuroradiologic findings in Sengers syndrome.
    Perry MS; Sladky JT
    Pediatr Neurol; 2008 Aug; 39(2):113-5. PubMed ID: 18639755
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract.
    Sengers RC; Stadhouders AM; van Lakwijk-Vondrovicova E; Kubat K; Ruitenbeek W
    Br Heart J; 1985 Nov; 54(5):543-7. PubMed ID: 4052295
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome.
    Prabu RV; Priyambada P; Ranjini H; Wasnik RB
    Indian J Ophthalmol; 2020 Nov; 68(11):2567-2569. PubMed ID: 33120694
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
    Wu CW; Caha M; Smoot L; Harris DJ; Roberts AE; Sacharow S; Bodamer O
    Mol Genet Metab; 2023 Jul; 139(3):107626. PubMed ID: 37354892
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy.
    Smeitink JA; Sengers RC; Trijbels JM; Ruitenbeek W; Daniëls O; Stadhouders AM; Kock-Jansen MJ
    Eur J Pediatr; 1989 Jun; 148(7):656-9. PubMed ID: 2744041
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mitochondrial myopathy and cardiomyopathy in siblings.
    Tulinius MH; Eriksson BO; Hjalmarson O; Holme E; Oldfors A
    Pediatr Neurol; 1989; 5(3):182-8. PubMed ID: 2742628
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator.
    Graham BH; Waymire KG; Cottrell B; Trounce IA; MacGregor GR; Wallace DC
    Nat Genet; 1997 Jul; 16(3):226-34. PubMed ID: 9207786
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.
    Karadimas C; Tanji K; Geremek M; Chronopoulou P; Vu T; Krishna S; Sue CM; Shanske S; Bonilla E; DiMauro S; Lipson M; Bachman R
    J Child Neurol; 2001 Jul; 16(7):531-3. PubMed ID: 11453453
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.