Search Results

There are 6469 results for: content related to: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

  1. Molecular Genetics of the Neuronal Ceroid Lipofuscinoses

    Standard Article


    Sara E Mole

    Published Online : 15 JAN 2014, DOI: 10.1002/9780470015902.a0024913

  2. The neuronal ceroid-lipofuscinoses

    Developmental Disabilities Research Reviews

    Volume 17, Issue 3, June 2013, Pages: 254–259, Michael J. Bennett and Dinesh Rakheja

    Version of Record online : 24 JUN 2013, DOI: 10.1002/ddrr.1118

  3. You have free access to this content
    Identification of novel and conserved functional and structural elements of the G1 cyclin Cln3 important for interactions with the CDK Cdc28 in Saccharomyces cerevisiae


    Volume 22, Issue 13, 15 October 2005, Pages: 1021–1036, Mary E. Miller, Frederick R. Cross, Alison L. Groeger and Katherine L. Jameson

    Version of Record online : 30 SEP 2005, DOI: 10.1002/yea.1292

  4. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

    Clinical Genetics

    Volume 74, Issue 3, September 2008, Pages: 213–222, SJ Moore, DJ Buckley, A MacMillan, HD Marshall, L Steele, PN Ray, Z Nawaz, B Baskin, M Frecker, SM Carr, E Ives and PS Parfrey

    Version of Record online : 5 AUG 2008, DOI: 10.1111/j.1399-0004.2008.01054.x

  5. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

    Clinical Genetics

    Volume 68, Issue 2, August 2005, Pages: 167–173, E Siintola, M Topcu, A Kohlschütter, T Salonen, T Joensuu, A-K Anttonen and A-E Lehesjoki

    Version of Record online : 17 JUN 2005, DOI: 10.1111/j.1399-0004.2005.00471.x

  6. You have free access to this content
    Regulation of the Cln3–Cdc28 kinase by cAMP in Saccharomyces cerevisiae

    The EMBO Journal

    Volume 17, Issue 15, August 3, 1998, Pages: 4370–4378, Duane D. Hall, David D. Markwardt, Fereshteh Parviz and Warren Heideman

    Version of Record online : 3 AUG 1998, DOI: 10.1093/emboj/17.15.4370

  7. High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons

    Journal of Neuroscience Research

    Volume 90, Issue 3, March 2012, Pages: 568–574, Melanie Thelen, Susanne Fehr, Michaela Schweizer, Thomas Braulke and Giovanna Galliciotti

    Version of Record online : 19 OCT 2011, DOI: 10.1002/jnr.22773

  8. You have free access to this content
    Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

    European Journal of Biochemistry

    Volume 268, Issue 22, November 2001, Pages: 5851–5856, Juha M. Holopainen, Juhani Saarikoski, Paavo K. J. Kinnunen and Irma Järvelä

    Version of Record online : 20 DEC 2001, DOI: 10.1046/j.0014-2956.2001.02530.x

  9. An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

    Clinical Genetics

    Volume 76, Issue 4, October 2009, Pages: 372–382, R Kohan, IA Cismondi, R Dodelson Kremer, VJ Muller, N Guelbert, V Tapia Anzolini, MJ Fietz, AM Oller Ramírez and I Noher Halac

    Version of Record online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01214.x

  10. You have free access to this content
    Neurodevelopmental delay in the Cln3Δex7/8 mouse model for Batten disease

    Genes, Brain and Behavior

    Volume 8, Issue 3, April 2009, Pages: 337–345, N. S. Osório, B. Sampaio-Marques, C.-H. Chan, P. Oliveira, D. A. Pearce, N. Sousa and F. Rodrigues

    Version of Record online : 19 FEB 2009, DOI: 10.1111/j.1601-183X.2009.00478.x

  11. You have free access to this content
    G1 cyclins block the Ime1 pathway to make mitosis and meiosis incompatible in budding yeast

    The EMBO Journal

    Volume 18, Issue 2, January 15, 1999, Pages: 320–329, Neus Colomina, Eloi Garí, Carme Gallego, Enrique Herrero and Martí Aldea

    Version of Record online : 15 JAN 1999, DOI: 10.1093/emboj/18.2.320

  12. The Genetic Spectrum of Human Neuronal Ceroid-lipofuscinoses

    Brain Pathology

    Volume 14, Issue 1, January 2004, Pages: 70–76, Sara E. Mole

    Version of Record online : 5 APR 2006, DOI: 10.1111/j.1750-3639.2004.tb00500.x

  13. You have free access to this content
    The CLN3/SWI6/CLN2 pathway and SNF1 act sequentially to regulate meiotic initiation in Saccharomyces cerevisiae

    Genes to Cells

    Volume 7, Issue 7, July 2002, Pages: 675–691, Kedar Purnapatre, Sarah Piccirillo, Brandt L. Schneider and Saul M. Honigberg

    Version of Record online : 25 JUN 2002, DOI: 10.1046/j.1365-2443.2002.00551.x

  14. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

    Human Mutation

    Volume 21, Issue 5, May 2003, Pages: 502–508, Carla A. Teixeira, Janice Espinola, Liang Huo, Johannes Kohlschütter, Dixie-Ann Persaud Sawin, Berge Minassian, Carlos J. P. Bessa, A. Guimarães, Dietrich A. Stephan, Maria Clara Sá Miranda, Marcy E. MacDonald, Maria Gil Ribeiro and Rose-Mary N. Boustany

    Version of Record online : 27 MAR 2003, DOI: 10.1002/humu.10207

  15. You have free access to this content
    C-Terminal Prenylation of the CLN3 Membrane Glycoprotein Is Required for Efficient Endosomal Sorting to Lysosomes


    Volume 8, Issue 4, April 2007, Pages: 431–444, Stephan Storch, Sandra Pohl, Arne Quitsch, Katrin Falley and Thomas Braulke

    Version of Record online : 7 FEB 2007, DOI: 10.1111/j.1600-0854.2007.00537.x

  16. You have free access to this content
    Delayed accumulation of the yeast G1 cyclins Cln1 and Cln2 and the F-box protein Grr1 in response to glucose


    Volume 24, Issue 5, May 2007, Pages: 419–429, Julien P. Fey and Stefan Lanker

    Version of Record online : 15 MAR 2007, DOI: 10.1002/yea.1472

  17. You have full text access to this OnlineOpen article
    Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies

    Journal of Veterinary Internal Medicine

    Volume 30, Issue 4, July/August 2016, Pages: 1149–1158, A. Kolicheski, G.S. Johnson, D.P. O'Brien, T. Mhlanga-Mutangadura, D. Gilliam, J. Guo, T.D. Anderson-Sieg, R.D. Schnabel, J.F. Taylor, A. Lebowitz, B. Swanson, D. Hicks, Z.E. Niman, F.A. Wininger, M.C. Carpentier and M.L. Katz

    Version of Record online : 20 MAY 2016, DOI: 10.1111/jvim.13971

  18. The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1458–1466, Anne Polvi, Henna Linturi, Teppo Varilo, Anna-Kaisa Anttonen, Myles Byrne, Ivo F.A.C. Fokkema, Henrikki Almusa, Anthony Metzidis, Kristiina Avela, Pertti Aula, Marjo Kestilä and Juha Muilu

    Version of Record online : 13 SEP 2013, DOI: 10.1002/humu.22389

  19. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

    Human Mutation

    Volume 22, Issue 1, July 2003, Pages: 35–42, Julie D. Sharp, Ruth B. Wheeler, Keith A. Parker, R. Mark Gardiner, Ruth E. Williams and Sara E. Mole

    Version of Record online : 4 JUN 2003, DOI: 10.1002/humu.10227

  20. You have free access to this content
    Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

    Human Mutation

    Volume 14, Issue 3, 1999, Pages: 199–215, Sara E. Mole, Hannah M. Mitchison and Patricia B. Munroe

    Version of Record online : 2 SEP 1999, DOI: 10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A