Neuropediatrics

Ausgabe 01 · Februar 1997

Accepted Manuscripts
eFirst
Ausgabe
Introduction
3
Haltia, M.; Santavuori, P.: Introduction

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Introductory note
4
Rider, J. A.; Rider, D. L.: Batten Disease, a Twenty-Eight-Year Struggle: Past, Present and Future

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Original articles
6
Uvebrant, P.; Hagberg, B.: Neuronal Ceroid Lipofuscinoses in Scandinavia: Epidemiology and Clinical Pictures

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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

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33
Kaczmarski, W.; Kida, E.; Lach, A.; Rubenstein, R.; Zhong, N.; Wisniewski, K. E.: Expression Studies of CLN3 Protein

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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

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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)

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49
Tyynelä, Jaana; Suopanki, J.; Baumann, M.; Haltia, M.: Sphingolipid Activator Proteins (SAPs) in Neuronal Ceroid Lipofuscinoses (NCL)

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53
Ezaki, J.; Wolfe, L. S.; Kominami, Eiki: Decreased Lysosomal Subunit c-Degrading Activity in Fibroblasts from Patients with Late Infantile Neuronal Ceroid Lipofuscinosis

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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

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71
Liewendahl, K.; Vanhanen, S.-L.; Heiskala, H.; Raininko, R.; Nikkinen, P.; Launes, J.; Santavuori, P.: Brain Perfusion SPECT Abnormalities in Neuronal Ceroid Lipofuscinoses

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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)

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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

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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

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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

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23
Bizzozero, O. A.: The Mechanism and Functional Roles of Protein Palmitoylation in the Nervous System

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60
Jolly, R. D.: The Ovine Model of Neuronal Ceroid Lipofuscinosis (NCL): Its Contribution to Understanding the Pathogenesis of Batten Disease

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63
Syvänen, Ann-Christine; Järvelä, I.; Paunio, T.; Vesa, J.: DNA Diagnosis and Identification of Carriers of Infantile and Juvenile Neuronal Ceroid Lipofuscinoses

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67
Goebel, H. H.: Morphologic Diagnosis in Neuronal Ceroid Lipofuscinosis

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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

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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

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18
Taschner, P. E. M.; de Vos, Nanneke; Breuning, M. H.: Cross-Species Homology of the CLN3 Gene

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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

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31
Dawson, G.; Cho, Seongeun; Siakotos, A. N.; Kilkus, J.: Low Molecular Weight Storage Material in Infantile Ceroid Lipofuscinosis (CLN1)

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42
Pullarkat, Raju K.; Morris, George N.: Farnesylation of Batten Disease CLN3 Protein

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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)

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Brief rewiew
70
Sainio, K.: Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses

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