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 *

147 related articles for article (PubMed ID: 38741870)

  • 1. A Case of Beta-Propeller Protein-Associated Neurodegeneration With a Unique Truncating Variant in the WDR45 Gene and Uncommon Clinical and Radiologic Findings.
    Esbit S; Sidlow R
    Cureus; 2024 Apr; 16(4):e58127. PubMed ID: 38741870
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of
    Hermann A; Kitzler HH; Pollack T; Biskup S; Krüger S; Funke C; Terrile C; Haack TB
    Tremor Other Hyperkinet Mov (N Y); 2017; 7():465. PubMed ID: 29082105
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN).
    Ingrassia R; Memo M; Garavaglia B
    Front Genet; 2017; 8():18. PubMed ID: 28261264
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in
    Susgun S; Demirel M; Yalcin Cakmakli G; Salman B; Oguz KK; Elibol B; Ugur Iseri SA; Yapici Z
    Int J Neurosci; 2024 Oct; 134(10):1040-1045. PubMed ID: 37099669
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
    Akçakaya NH; Salman B; Görmez Z; Tarkan Argüden Y; Çırakoğlu A; Çakmur R; Dönmez Çolakoğlu B; Hacıhanefioğlu S; Özbek U; Yapıcı Z; Uğur İşeri SA
    Neuromolecular Med; 2019 Mar; 21(1):54-59. PubMed ID: 30612247
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum.
    Chard M; Appendino JP; Bello-Espinosa LE; Curtis C; Rho JM; Wei XC; Al-Hertani W
    Mol Genet Metab Rep; 2019 Sep; 20():100483. PubMed ID: 31293896
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration.
    Diaw SH; Ganos C; Zittel S; Plötze-Martin K; Kulikovskaja L; Vos M; Westenberger A; Rakovic A; Lohmann K; Dulovic-Mahlow M
    Int J Mol Sci; 2022 Aug; 23(17):. PubMed ID: 36076926
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development.
    Noda M; Ito H; Nagata KI
    Sci Rep; 2021 Nov; 11(1):22568. PubMed ID: 34799629
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
    Takano K; Shiba N; Wakui K; Yamaguchi T; Aida N; Inaba Y; Fukushima Y; Kosho T
    Am J Med Genet A; 2016 Feb; 170A(2):322-328. PubMed ID: 26481852
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel
    Wynn DP; Pulst SM
    Neurol Genet; 2017 Feb; 3(1):e124. PubMed ID: 27957548
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.
    Tang X; Lan X; Song X; Xu W; Zhang Y; Zhang H; Wu S
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1499. PubMed ID: 33037762
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.
    Christoforou S; Christodoulou K; Anastasiadou V; Nicolaides P
    Eur J Med Genet; 2020 Mar; 63(3):103765. PubMed ID: 31536831
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.
    Wilson JL; Gregory A; Kurian MA; Bushlin I; Mochel F; Emrick L; Adang L; ; Hogarth P; Hayflick SJ
    Dev Med Child Neurol; 2021 Dec; 63(12):1402-1409. PubMed ID: 34347296
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.
    Verhoeven WM; Egger JI; Koolen DA; Yntema H; Olgiati S; Breedveld GJ; Bonifati V; van de Warrenburg BP
    Parkinsonism Relat Disord; 2014 Mar; 20(3):332-6. PubMed ID: 24368176
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of
    Peng Q; Cui Y; Wu J; Wu L; Liu J; Han Y; Lu G
    Heliyon; 2024 May; 10(9):e30438. PubMed ID: 38765101
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).
    Hattingen E; Handke N; Cremer K; Hoffjan S; Kukuk GM
    Clin Neuroradiol; 2017 Dec; 27(4):481-483. PubMed ID: 28643035
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation.
    Aring L; Choi EK; Kopera H; Lanigan T; Iwase S; Klionsky DJ; Seo YA
    J Neurochem; 2022 Feb; 160(3):356-375. PubMed ID: 34837396
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
    Biagosch CA; Vidali S; Faerberboeck M; Hensler SV; Becker L; Amarie OV; Aguilar-Pimentel A; Garrett L; Klein-Rodewald T; Rathkolb B; Zanuttigh E; Calzada-Wack J; da Silva-Buttkus P; Rozman J; Treise I; Fuchs H; Gailus-Durner V; de Angelis MH; Janik D; Wurst W; Mayr JA; Klopstock T; Meitinger T; Prokisch H; Iuso A
    Mamm Genome; 2021 Oct; 32(5):332-349. PubMed ID: 34043061
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.
    Kano K; Yamanaka G; Muramatsu K; Morichi S; Ishida Y; Takamatsu T; Suzuki S; Miyajima T; Nakagawa E; Nishino I; Kawashima H
    Am J Med Genet A; 2021 Feb; 185(2):579-583. PubMed ID: 33251766
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.