DOI: 10.1055/s-00000041

Neuropediatrics

Issue 01 · Volume 39 · February 2008 DOI: 10.1055/s-002-12667

Original Article

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    Khurana, D. S.; Salganicoff, L.; Melvin, J. J.; Hobdell, E. F.; Valencia, I.; Hardison, H. H.; Marks, H. G.; Grover, W. D.; Legido, A.:

    Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies

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    Debray, F.-G.; Lambert, M.; Gagne, R.; Maranda, B.; Laframboise, R.; MacKay, N.; Robinson, B. H.; Mitchell, G. A.:

    Pyruvate Dehydrogenase Deficiency Presenting as Intermittent Isolated Acute Ataxia

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    Moslemi, A.-R.; Darin, N.; Tulinius, M.; Wiklund, L.-M.; Holme, E.; Oldfors, A.:

    Progressive Encephalopathy and Complex I Deficiency Associated with Mutations in MTND1

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    Pineda, M.; R-Palmero, A.; Baquero, M.; O'Callaghan, M.; Aracil, A.; Knaap, M. van der; Scheper, G. C.:

    Vanishing White Matter Disease Associated with Progressive Macrocephaly

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    Auer-Grumbach, M.; Fischer, C.; Papić, L.; John, E.; Plecko, B.; Bittner, R. E.; Bernert, G.; Pieber, T. R.; Miltenberger, G.; Schwarz, R.; Windpassinger, C.; Grill, F.; Timmerman, V.; Speicher, M. R.; Janecke, A. R.:

    Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

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  • Short Communication

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    Soresina, A.; Meini, A.; Lougaris, V.; Cattaneo, G.; Pellegrino, S.; Piane, M.; Darra, F.; Plebani, A.:

    Different Clinical and Immunological Presentation of Ataxia-Telangiectasia within the Same Family

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