My NCBI | Sign In
RSS Settings
  • Search:

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

    Results: 1 to 20 of 99

    1.

    Batten disease: features to facilitate early diagnosis.

    Collins J, Holder GE, Herbert H, Adams GG.

    Br J Ophthalmol. 2006 Sep;90(9):1119-24. Epub 2006 Jun 5.PMID: 16754648 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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 Jr, Bellmann C, Robson AG, Holder GE, Taylor A, Anderson G, Moore AT.

    Klin Monbl Augenheilkd. 2004 May;221(5):427-30.PMID: 15162299 [PubMed - indexed for MEDLINE]Related articles

    3.

    [The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]

    Rüther K, Gal A, Kohlschütter A.

    Klin Monbl Augenheilkd. 2006 Jun;223(6):542-4. German. PMID: 16804827 [PubMed - indexed for MEDLINE]Related articles

    4.

    [Juvenile neuronal ceroid lipofuscinosis (Batten-Mayou) disease. Ophthalmologic diagnosis and findings]

    Seeliger M, Rüther K, Apfelstedt-Sylla E, Schlote W, Wohlrab M, Zrenner E.

    Ophthalmologe. 1997 Aug;94(8):557-62. German. PMID: 9376693 [PubMed - indexed for MEDLINE]Related articles

    5.

    Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.

    Eksandh LB, Ponjavic VB, Munroe PB, Eiberg HE, Uvebrant PE, Ehinger BE, Mole SE, Andréasson S.

    Ophthalmic Genet. 2000 Jun;21(2):69-77.PMID: 10916181 [PubMed - indexed for MEDLINE]Related articles

    6.

    Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: case report and literature review.

    Wilkinson ME.

    Optometry. 2001 Nov;72(11):724-8. Review.PMID: 12363260 [PubMed - indexed for MEDLINE]Related articles

    7.

    The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses.

    Weleber RG.

    Eye (Lond). 1998;12 ( Pt 3b):580-90. Review.PMID: 9775220 [PubMed - indexed for MEDLINE]Related articles

    8.

    Vision loss as the presenting sign in juvenile neuronal ceroid lipofuscinosis.

    Bohra LI, Weizer JS, Lee AG, Lewis RA.

    J Neuroophthalmol. 2000 Jun;20(2):111-5.PMID: 10870925 [PubMed - indexed for MEDLINE]Related articles

    9.

    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.PMID: 15032383 [PubMed - indexed for MEDLINE]Related articles

    10.

    Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

    Weleber RG, Gupta N, Trzupek KM, Wepner MS, Kurz DE, Milam AH.

    Mol Genet Metab. 2004 Sep-Oct;83(1-2):128-37.PMID: 15464427 [PubMed - indexed for MEDLINE]Related articles

    11.

    [Juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt disease)]

    Neppert B, Kemper B.

    Klin Monbl Augenheilkd. 1998 Dec;213(6):362-6. German. PMID: 10048016 [PubMed - indexed for MEDLINE]Related articles

    12.

    Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.

    Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA.

    Surv Ophthalmol. 2009 Jul-Aug;54(4):463-71. Review.PMID: 19539834 [PubMed - indexed for MEDLINE]Related articles

    13.

    Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy.

    Holder GE, Robson AG, Pavesio C, Graham EM.

    Br J Ophthalmol. 2005 Jun;89(6):709-18.PMID: 15923507 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

    de Voer G, van der Bent P, Rodrigues AJ, van Ommen GJ, Peters DJ, Taschner PE.

    J Inherit Metab Dis. 2005;28(6):1065-80.PMID: 16435200 [PubMed - indexed for MEDLINE]Related articles

    15.

    A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

    Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE.

    Hum Mol Genet. 2008 Jan 15;17(2):303-12. Epub 2007 Oct 18.PMID: 17947292 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.

    Lauronen L, Munroe PB, Järvelä I, Autti T, Mitchison HM, O'Rawe AM, Gardiner RM, Mole SE, Puranen J, Häkkinen AM, Kirveskari E, Santavuori P.

    Neurology. 1999 Jan 15;52(2):360-5.PMID: 9932957 [PubMed - indexed for MEDLINE]Related articles

    17.

    Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease.

    Bensaoula T, Shibuya H, Katz ML, Smith JE, Johnson GS, John SK, Milam AH.

    Ophthalmology. 2000 Sep;107(9):1746-53.PMID: 10964839 [PubMed - indexed for MEDLINE]Related articles

    18.

    Bull's-eye maculopathy and negative electroretinogram.

    Miyake Y, Shiroyama N, Horiguchi M, Saito A, Yagasaki K.

    Retina. 1989;9(3):210-5.PMID: 2595114 [PubMed - indexed for MEDLINE]Related articles

    19.

    Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).

    Järvelä I, Autti T, Lamminranta S, Aberg L, Raininko R, Santavuori P.

    Ann Neurol. 1997 Nov;42(5):799-802.PMID: 9392580 [PubMed - indexed for MEDLINE]Related articles

    20.

    Unilateral cone dysfunction with bull's eye maculopathy.

    Nomura R, Kondo M, Tanikawa A, Yamamoto N, Terasaki H, Miyake Y.

    Ophthalmology. 2001 Jan;108(1):49-53.PMID: 11150264 [PubMed - indexed for MEDLINE]Related articles

    Supplemental Content

    Filter your results:

    Find related data

    Recent activity