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 *

111 related articles for article (PubMed ID: 12112211)

  • 1. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
    Zhu D; Burke C; Leslie A; Nicholson GA
    Mov Disord; 2002 May; 17(3):585-9. PubMed ID: 12112211
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A).
    Ahmad I; Kamai A; Zahra S; Kapoor H; Kumar Srivastava A; Faruq M
    Stem Cell Res; 2024 Jun; 77():103382. PubMed ID: 38484450
    [TBL] [Abstract][Full Text] [Related]  

  • 3. DNA Base Damage Repair Crosstalks with Chromatin Structures to Contract Expanded GAA Repeats in Friedreich's Ataxia.
    Lai Y; Diaz N; Armbrister R; Agoulnik I; Liu Y
    Biomolecules; 2024 Jul; 14(7):. PubMed ID: 39062522
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Friedreich's ataxia: new insights.
    Krasilnikova MM; Humphries CL; Shinsky EM
    Emerg Top Life Sci; 2023 Dec; 7(3):313-323. PubMed ID: 37698160
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients.
    Misiorek JO; Schreiber AM; Urbanek-Trzeciak MO; Jazurek-Ciesiołka M; Hauser LA; Lynch DR; Napierala JS; Napierala M
    Mol Neurobiol; 2020 Jun; 57(6):2639-2653. PubMed ID: 32291635
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.
    Shen MM; Rummey C; Lynch DR
    Ann Clin Transl Neurol; 2024 May; 11(5):1110-1121. PubMed ID: 38396238
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Interruptions of the
    Nethisinghe S; Kesavan M; Ging H; Labrum R; Polke JM; Islam S; Garcia-Moreno H; Callaghan MF; Cavalcanti F; Pook MA; Giunti P
    Int J Mol Sci; 2021 Jul; 22(14):. PubMed ID: 34299126
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene.
    Ahmad I; Kapoor H; Kumar Srivastava A; Faruq M
    Stem Cell Res; 2024 Feb; 74():103289. PubMed ID: 38141359
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
    Patel PI; Isaya G
    Am J Hum Genet; 2001 Jul; 69(1):15-24. PubMed ID: 11391483
    [No Abstract]   [Full Text] [Related]  

  • 10. Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene.
    Ahmad I; Kapoor H; Srivastava AK; Faruq M
    Stem Cell Res; 2024 Apr; 76():103340. PubMed ID: 38367363
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes.
    Cnop M; Igoillo-Esteve M; Rai M; Begu A; Serroukh Y; Depondt C; Musuaya AE; Marhfour I; Ladrière L; Moles Lopez X; Lefkaditis D; Moore F; Brion JP; Cooper JM; Schapira AH; Clark A; Koeppen AH; Marchetti P; Pandolfo M; Eizirik DL; Féry F
    Ann Neurol; 2012 Dec; 72(6):971-82. PubMed ID: 23280845
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Replication dependent and independent mechanisms of GAA repeat instability.
    Masnovo C; Lobo AF; Mirkin SM
    DNA Repair (Amst); 2022 Oct; 118():103385. PubMed ID: 35952488
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
    Aguilera C; Esteve-Garcia A; Casasnovas C; Vélez-Santamaria V; Rausell L; Gargallo P; Garcia-Planells J; Alía P; Llecha N; Padró-Miquel A
    BMC Med Genomics; 2023 Dec; 16(1):312. PubMed ID: 38041144
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Friedreich ataxia (FA) associated with diabetes mellitus type 1 and hyperthrophic cardiomyopathy.
    Gucev Z; Tasic V; Jancevska A; Popjordanova N; Koceva S; Kuturec M; Sabolic V
    Bosn J Basic Med Sci; 2009 May; 9(2):107-10. PubMed ID: 19485941
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
    Bonnet C; Pellerin D; Roth V; Clément G; Wandzel M; Lambert L; Frismand S; Douarinou M; Grosset A; Bekkour I; Weber F; Girardier F; Robin C; Cacciatore S; Bronner M; Pourié C; Dreumont N; Puisieux S; Iruzubieta P; Dicaire MJ; Evoy F; Rioux MF; Hocquel A; La Piana R; Synofzik M; Houlden H; Danzi MC; Zuchner S; Brais B; Renaud M
    Sci Rep; 2023 Jun; 13(1):9737. PubMed ID: 37322040
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.
    Cengiz Winter N; Karakaya M; Mosen P; Brusius I; Anlar B; Haliloglu G; Winter D; Wirth B
    J Proteome Res; 2023 Sep; 22(9):3081-3095. PubMed ID: 37585105
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
    Pellerin D; Iruzubieta P; Tekgül Ş; Danzi MC; Ashton C; Dicaire MJ; Wandzel M; Roth V; Lamont PJ; Bonnet C; Renaud M; Synofzik M; Zuchner S; Brais B; Başak NA; Houlden H
    Mov Disord; 2023 Aug; 38(8):1575-1577. PubMed ID: 37565404
    [No Abstract]   [Full Text] [Related]  

  • 18. JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family.
    Schneider SA; Marshall KE; Xiao J; LeDoux MS
    Neurogenetics; 2012 May; 13(2):133-40. PubMed ID: 22447335
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.
    Freri E; Canafoglia L; Ciaccio C; Rossi Sebastiano D; Caputo D; Solazzi R; Sciacca FL; Iascone M; Panzica F; Granata T; Franceschetti S; Nardocci N
    Mov Disord; 2024 Jul; 39(7):1238-1240. PubMed ID: 38643413
    [No Abstract]   [Full Text] [Related]  

  • 20. Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood.
    Wang Q; Laboureur L; Weng L; Eskenazi NM; Hauser LA; Mesaros C; Lynch DR; Blair IA
    Front Neurosci; 2022; 16():874768. PubMed ID: 35573317
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.