Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH) von Schoumans, J, Ruivenkamp, C, Holmberg, E, Kyllerman, M, Anderlid, B-M, Nordenskjöld, M

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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I) von Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Goodman, S. I., Koeller, D. M., Müller, E., Naughten, E. R., Neumaier‐Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G. F., Burgard, P.

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Belly dancer syndrome von Coelho, M, Kyllerman, M

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Alexander disease : Ventricular garlands and abnormalities of the medulla and spinal cord von VAN DER KNAAP, M. S, RAMESH, V, BARKHOF, F, SALOMONS, G. S, SCHIFFMANN, R, BLASER, S, KYLLERMAN, M, GHOLKAR, A, ELLISON, D. W, VAN DER VOORN, J. P, VAN DOOREN, S. J. M, JAKOBS, C

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Increased Levels of GFAP in the Cerebrospinal Fluid in Three Subtypes of Genetically Confirmed Alexander Disease von Kyllerman, M., Rosengren, L., Wiklund, L.-M., Holmberg, E.

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V06 Poster location 006 A case of diaphragmatic flutter in children von Coelho, M.D, Kyllerman, M

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Beckung and Kyllerman reply von Beckung, Eva, Kyllerman, Mårten

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Male Rett Phenotypes in T158M and R294X MeCP2-mutations von Lundvall, M., Samuelsson, L., Kyllerman, M.

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Angelman syndrome 2005: Updated consensus for diagnostic criteria von Williams, Charles A., Beaudet, Arthur L., Clayton-Smith, Jill, Knoll, Joan H., Kyllerman, Martin, Laan, Laura A., Magenis, R. Ellen, Moncla, Ann, Schinzel, Albert A., Summers, Jane A., Wagstaff, Joseph

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Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age von TAJSHARGHI, H, THORNELL, L.-E, DARIN, N, MARTINSSON, T, KYLLERMAN, M, WAHLSTRÖM, J, OLDFORS, A

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Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles von Darin, N., Kyllerman, M., Wahlström, J., Martinsson, T., Oldfors, A.

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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome von Gilfillan, Gregor D., Selmer, Kaja K., Roxrud, Ingrid, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald, Sjøholm, Hans, Server, Andres, Samuelsson, Lena, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter

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Induced shift in myosin heavy chain expression in myosin myopathy by endurance training von TAJSHARGHI, Homa, STIBRANT SUNNERHAGEN, Katharina, DARIN, Niklas, KYLLERMAN, Marten, OLDFORS, Anders

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Aicardi Syndrome: Follow-Up Investigation of Swedish Children Born in 1975-2002 von Palmér, L., Zetterlund, B., Hård, A-L., Steneryd, K., Kyllerman, M.

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Aicardi Syndrome: Presentation at Onset in Swedish Children Born in 1975 - 2002 von Palmér, L., Zetterlund, B., Hård, A.-L., Steneryd, K., Kyllerman, M.

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Zonisamide for progressive myoclonus epilepsy: long-term observations in seven patients von Kyllerman, Mårten, Ben-Menachem, Elinor

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Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia von Klein, Christine, Gurvich, Nadia, Sena-Esteves, Miguel, Bressman, Susan, Brin, Mitchell F., Ebersole, Barbara J., Fink, Stephen, Forsgren, Lars, Friedman, Jennifer, Grimes, David, Holmgren, Gosta, Kyllerman, Mårtin, Lang, Anthony E., De Leon, Deborah, Leung, Joanne, Prioleau, Cassandra, Raymond, Deborah, Sanner, Gunnar, Saunders-Pullman, Rachel, Vieregge, Peter, Wahlström, Jan, Breakefield, Xandra O., Kramer, Patricia L., Ozelius, Laurie J., Sealfon, Stuart C.

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Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene ( ACTA1) von Ohlsson, M., Tajsharghi, H., Darin, N., Kyllerman, M., Oldfors, A.

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Large-Cell Medulloblastoma in Aicardi Syndrome. Case Report and Literature Review von Palmér, L., Nordborg, C., Steneryd, K., Åman, P., Kyllerman, M.

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Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance von Barth, Peter G., Majoie, Charles B., Caan, Matthan W.A., Weterman, Marian A.J., Kyllerman, Marten, Smit, Leo M.E., Kaplan, Richard A., Haas, Richard H., Baas, Frank, Cobben, Jan-Maarten, Poll-The, Bwee Tien

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