DOI: 10.1055/s-00000041

Neuropediatrics

Ausgabe 03 · Volume 35 · Juni 2004 DOI: 10.1055/s-002-3472

Original Article

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    Hartmann, H.; Uyanik, G.; Gross, C.; Hehr, U.; Lücke, T.; Arslan-Kirchner, M.; Antosch, B.; Das, A. M.; Winkler, J.:

    Agenesis of the Corpus Callosum, Abnormal Genitalia and Intractable Epilepsy due to a Novel Familial Mutation in the Aristaless-Related Homeobox Gene

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    Huck, J. H. J.; Verhoeven, N. M.; van Hagen, J. M.; Jakobs, C.; van der Knaap, M. S.:

    Clinical Presentations of Patients with Polyol Abnormalities

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    Rudnik-Schöneborn, S.; Stolz, P.; Varon, R.; Grohmann, K.; Schächtele, M.; Ketelsen, U.-P.; Stavrou, D.; Kurz, H.; Hübner, C.; Zerres, K.:

    Long-Term Observations of Patients with Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

  • 183
    Müller, J. S.; Petrova, S.; Kiefer, R.; Stucka, R.; König, C.; Baumeister, S. K.; Huebner, A.; Lochmüller, H.; Abicht, A.:

    Synaptic Congenital Myasthenic Syndrome in Three Patients due to a Novel Missense Mutation (T441A) of the COLQ Gene

  • Short Communication

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    Saltik, S.; Saip, S.; Kocer, N.; Siva, A.; Yalçinkaya, C.:

    MRI Findings in Pediatric Neuro-Behçet's Disease

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    Milani, N.; Zibordi, F.; Erbetta, A.; Pollo, B.; Angelini, L.:

    Neuromyelitis Optica in a Child with Atypical Onset and Severe Outcome

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    Hahn, A.; Gross, C.; Uyanik, G.; Hehr, U.; Hügens-Penzel, M.; Alzen, G.; Neubauer, B. A.:

    X-Linked Lissencephaly with Abnormal Genitalia Associated with Renal Phosphate Wasting