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There are 52955 results for: content related to: A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations

  1. You have free access to this content
    Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration

    EMBO reports

    Volume 8, Issue 7, July 2007, Pages: 691–697, Wolfgang M Schmidt, Cornelia Kraus, Harald Höger, Sonja Hochmeister, Felicitas Oberndorfer, Manuela Branka, Sonja Bingemann, Hans Lassmann, Markus Müller, Lúcia Inês Macedo-Souza, Mariz Vainzof, Mayana Zatz, André Reis and Reginald E Bittner

    Article first published online : 15 JUN 2007, DOI: 10.1038/sj.embor.7401001

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    Membrane Trafficking in Osteoblasts and Osteoclasts: New Avenues for Understanding and Treating Skeletal Diseases


    Volume 13, Issue 10, October 2012, Pages: 1307–1314, Haibo Zhao

    Article first published online : 24 JUL 2012, DOI: 10.1111/j.1600-0854.2012.01395.x

  3. Response to Kouwenberg et al. “Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations”

    American Journal of Medical Genetics Part A

    Volume 155, Issue 9, September 2011, Pages: 2333–2334, Beyhan Tüysüz, Aslıhan Tolun and Yeşerin Yıldırım

    Article first published online : 10 AUG 2011, DOI: 10.1002/ajmg.a.34151

  4. Small molecule β-amyloid inhibitors that stabilize protofibrillar structures in vitro improve cognition and pathology in a mouse model of Alzheimer’s disease

    European Journal of Neuroscience

    Volume 31, Issue 2, January 2010, Pages: 203–213, Cheryl A. Hawkes, Le-Hua Deng, James E. Shaw, Mark Nitz and JoAnne McLaurin

    Article first published online : 13 JAN 2010, DOI: 10.1111/j.1460-9568.2009.07052.x

  5. Genotype identification and genetic diversity of Sugarcane yellow leaf virus in China

    Plant Pathology

    Volume 61, Issue 5, October 2012, Pages: 986–993, M. Q. Wang, D. L. Xu, R. Li and G. H. Zhou

    Article first published online : 31 JAN 2012, DOI: 10.1111/j.1365-3059.2012.02591.x

  6. scyllo-Inositol Pentakisphosphate as an Analogue of myo-Inositol 1,3,4,5,6-Pentakisphosphate: Chemical Synthesis, Physicochemistry and Biological Applications


    Volume 7, Issue 7, July 3, 2006, Pages: 1114–1122, Andrew M. Riley, Melanie Trusselle, Paul Kuad, Michal Borkovec, Jaiesoon Cho, Jae H. Choi, Xun Qian, Stephen B. Shears, Bernard Spiess and Barry V. L. Potter

    Article first published online : 6 JUN 2006, DOI: 10.1002/cbic.200600037

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    Variation in virus populations and growth characteristics of two sugarcane cultivars naturally infected by Sugarcane yellow leaf virus in different geographical locations

    Plant Pathology

    Volume 56, Issue 5, October 2007, Pages: 743–754, Y. Abu Ahmad, J.-C. Girard, E. Fernandez, J. Pauquet, B. E. L. Lockhart, P. Letourmy and P. Rott

    Article first published online : 25 APR 2007, DOI: 10.1111/j.1365-3059.2007.01617.x

  8. Production of Monoclonal Antibodies to Sugarcane Yellow Leaf Virus Using Recombinant Readthrough Protein

    Journal of Phytopathology

    Volume 150, Issue 8-9, September 2002, Pages: 488–494, J. Korimbocus, S. Preston, C. Danks, I. Barker, D. Coates and N. Boonham

    Article first published online : 27 SEP 2002, DOI: 10.1046/j.1439-0434.2002.00791.x

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    Spread of Sugarcane yellow leaf virus in sugarcane plants and fields on the island of Réunion

    Plant Pathology

    Volume 53, Issue 1, February 2004, Pages: 117–125, L. Rassaby, J.-C. Girard, O. Lemaire, L. Costet, M. S. Irey, H. Kodja, B. E. L. Lockhart and P. Rott

    Article first published online : 4 FEB 2004, DOI: 10.1111/j.1365-3059.2004.00950.x

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    Further evidence of the association of a phytoplasma and a virus with yellow leaf syndrome in sugarcane

    Plant Pathology

    Volume 50, Issue 5, October 2001, Pages: 628–636, S. M. Aljanabi, Y. Parmessur, Y. Moutia, S. Saumtally and A. Dookun

    Article first published online : 9 OCT 2008, DOI: 10.1046/j.1365-3059.2001.00604.x

  11. De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 927–931, Stefania Zampatti, Marco Castori, Bjoern Fischer, Paola Ferrari, Livia Garavelli, Carlo Dionisi-Vici, Emanuele Agolini, Anita Wischmeijer, Eva Morava, Giuseppe Novelli, Johannes Häberle, Uwe Kornak and Francesco Brancati

    Article first published online : 12 MAR 2012, DOI: 10.1002/ajmg.a.35231

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    Volume 51, Issue 3, May 2008, Pages: 509–536, CHARLIE J. UNDERWOOD and DAVID J. WARD

    Article first published online : 15 MAY 2008, DOI: 10.1111/j.1475-4983.2008.00757.x

  13. Protective dendritic cell responses against listeriosis induced by the short form of the deubiquitinating enzyme CYLD are inhibited by full-length CYLD

    European Journal of Immunology

    Rebecca Wurm, Sissy Just, Xu Wang, Katharina Wex, Ursula Schmid, Nicolas Blanchard, Ari Waisman, Hans-Jörg Schild, Martina Deckert, Michael Naumann, Dirk Schlüter and Gopala Nishanth

    Article first published online : 19 MAR 2015, DOI: 10.1002/eji.201445116

  14. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 445–455, Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Hausser, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul J. Coucke, Anne De Paepe and Zsolt Urban

    Article first published online : 1 MAR 2011, DOI: 10.1002/humu.21462

  15. A major quantitative trait allele for resistance to the Sugarcane yellow leaf virus (Luteoviridae)

    Plant Breeding

    Volume 131, Issue 5, October 2012, Pages: 637–640, Laurent Costet, Louis-Marie Raboin, Magali Payet, Angélique D’Hont and Samuel Nibouche

    Article first published online : 26 JUL 2012, DOI: 10.1111/j.1439-0523.2012.02003.x

  16. Design, Synthesis, and Delivery Properties of Novel Guanidine-Containing Molecular Transporters Built on Dimeric Inositol Scaffolds

    Chemistry - A European Journal

    Volume 13, Issue 3, January 12, 2007, Pages: 762–775, Kaustabh K. Maiti, Ock-Youm Jeon, Woo Sirl Lee and Sung-Kee Chung

    Article first published online : 6 NOV 2006, DOI: 10.1002/chem.200600898

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    Movement of aphid-transmitted Sugarcane yellow leaf virus (ScYLV) within and between sugarcane plants

    Plant Pathology

    Volume 56, Issue 4, August 2007, Pages: 711–717, A. T. Lehrer, S. Schenck, S.-L. Yan and E. Komor

    Article first published online : 23 JUL 2007, DOI: 10.1111/j.1365-3059.2007.01557.x

  18. Comparative study on the embryonic development of three mud crabs Scylla spp.

    Aquaculture Research

    Volume 43, Issue 2, January 2012, Pages: 215–225, Maria Charmela D Ates, Gerald F Quinitio, Emilia T Quinitio and Roman C Sanares

    Article first published online : 18 MAR 2011, DOI: 10.1111/j.1365-2109.2011.02818.x

  19. A genomic region encompassing a newly identified exon provides enhancing activity sufficient for normal myo7aa expression in zebrafish sensory hair cells

    Developmental Neurobiology

    Sylvain Ernest and Frédéric M. Rosa

    Article first published online : 19 JAN 2015, DOI: 10.1002/dneu.22263

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    Symptom expression of yellow leaf disease in sugarcane cultivars with different degrees of infection by Sugarcane yellow leaf virus

    Plant Pathology

    Volume 57, Issue 1, February 2008, Pages: 178–189, A. T. Lehrer and E. Komor

    Article first published online : 16 SEP 2007, DOI: 10.1111/j.1365-3059.2007.01696.x