DOI: 10.1055/s-00000041

Neuropediatrics

Ausgabe 01 · Volume 28 · Februar 1997 DOI: 10.1055/s-002-5731

Introduction

  • 3
    Haltia, M.; Santavuori, P.:

    Introduction

    • Introductory note

  • 4
    Rider, J. A.; Rider, D. L.:

    Batten Disease, a Twenty-Eight-Year Struggle: Past, Present and Future

    • Original articles

  • 6
    Uvebrant, P.; Hagberg, B.:

    Neuronal Ceroid Lipofuscinoses in Scandinavia: Epidemiology and Clinical Pictures

  • 27
    Hofmann, Sandra L.; Lee, Laura A.; Lu, Jui-Yun; Verkruyse, Linda A.:

    Palmitoyl-Protein Thioesterase and the Molecular Pathogenesis of Infantile Neuronal Ceroid Lipofuscinosis

  • 33
    Kaczmarski, W.; Kida, E.; Lach, A.; Rubenstein, R.; Zhong, N.; Wisniewski, K. E.:

    Expression Studies of CLN3 Protein

  • 37
    Puranam, K.; Qian, W.-H.; Nikbakht, K.; Venable, M.; Obeid, L.; Hannun, Y.; Boustany, R.-M.:

    Upregulation of Bcl-2 and Elevation of Ceramide in Batten Disease

  • 45
    Palmer, D. N.; Jolly, R. D.; van Mil, H. C.; Tyynelä, J.; Westlake, V. J.:

    Different Patterns of Hydrophobic Protein Storage in Different Forms of Neuronal Ceroid Lipofuscinosis (NCL, Batten Disease)

  • 49
    Tyynelä, Jaana; Suopanki, J.; Baumann, M.; Haltia, M.:

    Sphingolipid Activator Proteins (SAPs) in Neuronal Ceroid Lipofuscinoses (NCL)

  • 53
    Ezaki, J.; Wolfe, L. S.; Kominami, Eiki:

    Decreased Lysosomal Subunit c-Degrading Activity in Fibroblasts from Patients with Late Infantile Neuronal Ceroid Lipofuscinosis

  • 56
    Lake, B. D.; Rowan, Sarah A.:

    Light and Electron Microscopic Studies on Subunit c in Cultured Fibroblasts in Late Infantile and Juvenile Batten Disease

  • 71
    Liewendahl, K.; Vanhanen, S.-L.; Heiskala, H.; Raininko, R.; Nikkinen, P.; Launes, J.; Santavuori, P.:

    Brain Perfusion SPECT Abnormalities in Neuronal Ceroid Lipofuscinoses

  • 74
    Philippart, M.; da Silva, E.; Chugani, H. T.:

    The Value of Positron Emission Tomography in the Diagnosis and Monitoring of Late Infantile and Juvenile Lipopigment Storage Disorders (So-Called Batten or Neuronal Ceroid Lipofuscinoses)

  • 80
    Lake, B. D.; Steward, C. G.; Oakhill, A.; Wilson, J.; Perham, T. C. M.:

    Bone Marrow Transplantation in Late Infantile Batten Disease and Juvenile Batten Disease

  • 82
    Bennett, M. J.; Boriack, R. L.; Birch, D. G.:

    In-Utero and Post-Delivery Supplementation of Motor Neuron Degeneration Mutant Mice with Polyunsaturated Fatty Acids Does Not Alter the Clinical or Pathological Course

    • Review articles

  • 9
    Hellsten, Elina; Vesa, Jouni; Jalanko, Anu; Peltonen, Leena:

    From Locus to Cellular Disturbances: Positional Cloning of the Infantile Neuronal Ceroid Lipofuscinosis Gene

  • 23
    Bizzozero, O. A.:

    The Mechanism and Functional Roles of Protein Palmitoylation in the Nervous System

  • 60
    Jolly, R. D.:

    The Ovine Model of Neuronal Ceroid Lipofuscinosis (NCL): Its Contribution to Understanding the Pathogenesis of Batten Disease

  • 63
    Syvänen, Ann-Christine; Järvelä, I.; Paunio, T.; Vesa, J.:

    DNA Diagnosis and Identification of Carriers of Infantile and Juvenile Neuronal Ceroid Lipofuscinoses

  • 67
    Goebel, H. H.:

    Morphologic Diagnosis in Neuronal Ceroid Lipofuscinosis

    • Short communications

  • 12
    Mitchison, Hannah M.; Taschner, P. E. M.; Kremmidiotis, C.; Callen, D. F.; Doggett, N. A.; Lemer, T. J.; Janes, R. B.; Wallace, B. A.; Munroe, Patricia B.; O'Rawe, Angela M.; Gardiner, R. M.; Mole, Sara E.:

    Structure of the CLN3 Gene and Predicted Structure, Location and Function of CLN3 Protein

  • 15
    Munroe, Patricia B.; O'Rawe, Angela M.; Mitchison, Hannah M.; Järvelä, Irma E.; Santavuori, Pirkko; Lerner, Terry J.; Taschner, P. E. M.; Gardiner, R. M.; Mole, Sara E.:

    Strategy for Mutation Detection in CLN3: Characterisation of Two Finnish Mutations

  • 18
    Taschner, P. E. M.; de Vos, Nanneke; Breuning, M. H.:

    Cross-Species Homology of the CLN3 Gene

  • 21
    O'Rawe, Angela; Mitchison, Hannah M.; Williams, Ruth; Wheeler, Ruth; Andermann, Eva; Andermann, F.; Hart, Y. M.; Martin, Jean-Jacques; Philippart, Michel; Stephenson, John B. P.; Gardiner, R. Mark; Mole, Sara E.:

    Genetic Linkage Analysis of a Variant of Juvenile Onset Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits

  • 31
    Dawson, G.; Cho, Seongeun; Siakotos, A. N.; Kilkus, J.:

    Low Molecular Weight Storage Material in Infantile Ceroid Lipofuscinosis (CLN1)

  • 42
    Pullarkat, Raju K.; Morris, George N.:

    Farnesylation of Batten Disease CLN3 Protein

  • 77
    Åberg, Laura; Heiskala, H.; Vanhanen, S.-L.; Himberg, J. J.; Hosking, G.; Yuen, A.; Santavuori, P.:

    Lamotrigine Therapy in Infantile Neuronal Ceroid Lipofuscinosis (INCL)

    • Brief rewiew

  • 70
    Sainio, K.:

    Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses