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 *

107 related articles for article (PubMed ID: 30769084)

  • 1. Considerations in multi-gene panel testing in pediatric ophthalmology.
    Turriff AE; Cukras CA; Brooks BP; Huryn LA
    J AAPOS; 2019 Jun; 23(3):163-165.e1. PubMed ID: 30769084
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease.
    Dulz S; Atiskova Y; Wibbeler E; Wildner J; Wagenfeld L; Schwering C; Nickel M; Bartsch U; Spitzer MS; Schulz A
    Am J Ophthalmol; 2020 Dec; 220():64-71. PubMed ID: 32707205
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
    Ku CA; Hull S; Arno G; Vincent A; Carss K; Kayton R; Weeks D; Anderson GW; Geraets R; Parker C; Pearce DA; Michaelides M; MacLaren RE; Robson AG; Holder GE; Heon E; Raymond FL; Moore AT; Webster AR; Pennesi ME
    JAMA Ophthalmol; 2017 Jul; 135(7):749-760. PubMed ID: 28542676
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.
    Mantel I; Brantley MA; Bellmann C; Robson AG; Holder GE; Taylor A; Anderson G; Moore AT
    Klin Monbl Augenheilkd; 2004 May; 221(5):427-30. PubMed ID: 15162299
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease).
    Drack AV; Mullins RF; Pfeifer WL; Augustine EF; Stasheff SF; Hong SD
    Ophthalmic Genet; 2015; 36(4):359-64. PubMed ID: 24547931
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E; Dyken PR; Phillips P; Brodsky M; Bates S; Glasier C; Mrak RE
    J Child Neurol; 2004 Jan; 19(1):42-6. PubMed ID: 15032383
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
    Chen FK; Zhang X; Eintracht J; Zhang D; Arunachalam S; Thompson JA; Chelva E; Mallon D; Chen SC; McLaren T; Lamey T; De Roach J; McLenachan S
    Doc Ophthalmol; 2019 Feb; 138(1):55-70. PubMed ID: 30446867
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
    Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C
    JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
    Taschner PE; Losekoot M; Breuning MH; Hofman I; van Diggelen OP
    Ned Tijdschr Geneeskd; 2005 Feb; 149(6):300-3. PubMed ID: 15730038
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage.
    Dannhausen K; Möhle C; Langmann T
    Dis Model Mech; 2018 Sep; 11(9):. PubMed ID: 30042155
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Anaesthesia and orphan disease: a child with neuronal ceroid lipofuscinosis.
    Richa F
    Eur J Anaesthesiol; 2015 Mar; 32(3):213-5. PubMed ID: 24979587
    [No Abstract]   [Full Text] [Related]  

  • 12. Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis.
    Deacon BS; Charles JM; Cheeseman EW; Cathey SS
    Pediatr Neurol; 2016 Sep; 62():71-2. PubMed ID: 27215405
    [No Abstract]   [Full Text] [Related]  

  • 13. Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease.
    Furusawa Y; Mizukami K; Yabuki A; Kuwamura M; Chang HS; Hossain MA; Rahman MM; Uddin MM; Mitani S; Yamato O
    Vet J; 2012 Dec; 194(3):425-8. PubMed ID: 22627044
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life.
    Preising MN; Abura M; Jäger M; Wassill KH; Lorenz B
    Ophthalmic Genet; 2017; 38(3):252-259. PubMed ID: 27486012
    [TBL] [Abstract][Full Text] [Related]  

  • 15. OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS.
    Hansen MS; Hove MN; Jensen H; Larsen M
    Retin Cases Brief Rep; 2016; 10(2):137-9. PubMed ID: 26308342
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Further Characterization of the Predominant Inner Retinal Degeneration of Aging Cln3
    Volz C; Mirza M; Langmann T; Jägle H
    Adv Exp Med Biol; 2018; 1074():403-411. PubMed ID: 29721970
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
    Borgione E; Castello F; Lo Giudice M; Santa Paola S; Salvatore S; Berti G; Malandrini A; Bottitta M; Musumeci SA; Scuderi C
    Neurol Sci; 2016 May; 37(5):805-7. PubMed ID: 26700800
    [No Abstract]   [Full Text] [Related]  

  • 18. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
    Sarpong A; Schottmann G; Rüther K; Stoltenburg G; Kohlschütter A; Hübner C; Schuelke M
    Clin Genet; 2009 Jul; 76(1):38-45. PubMed ID: 19489875
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration.
    Kuper WFE; van Alfen C; van Eck L; van den Broek BTA; Huisman A; van Genderen MM; van Hasselt PM
    JAMA Ophthalmol; 2017 Dec; 135(12):1451-1453. PubMed ID: 29049447
    [No Abstract]   [Full Text] [Related]  

  • 20. A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.
    Drack AV; Miller JN; Pearce DA
    J Child Neurol; 2013 Sep; 28(9):1112-6. PubMed ID: 23877479
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.