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, Körner, C., Voit, T., Barić, I., Hehr, U. and Strahl, S.
(2010)
Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
Neurology 74 (2), pp. 157-164.
Fulltext not available.
, Stiegler, J., Klapecki, J., Gross, C., Berman, Y., Martin, P., Dey, L., Spranger, S., Korenke, G. C., Schreyer, I., Hertzberg, C., Neumann, T. E., Burkart, P., Spaich, C., Meng, M., Holthausen, H., Adès, L., Seidel, J., Mangold, E., Buyse, G., Meinecke, P., Schara, U., Zeschnigk, C., Muller, D., Helland, G., Schulze, B., Wright, M. L., Kortge-Jung, S., Hehr, A., Bogdahn, U., Schuierer, G., Kohlhase, J., Aigner, L., Wolff, G., Hehr, U. and Winkler, J.
(2007)
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Neurology 69 (5), pp. 442-447.
Fulltext not available.
, Bogdahn, U., Topaloglu, H., Hehr, U. and Winkler, J.
(2006)
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.
Neurology 66 (7), pp. 1044-1048.
Fulltext restricted.
, Gross, C., Cirak, S., Elibol, B., Anlar, B.
, Winner, B.
, Hehr, U., Topaloglu, H. and Winkler, J.
(2006)
Further Clinical and Genetic Characterization of SPG11: Hereditary Spastic Paraplegia with Thin Corpus Callosum.
Neuropediatrics 37 (2), pp. 59-66.
Fulltext not available.
, Martin, P., Eckel, U., Spranger, S., Otte, J., Woerle, H., Holthausen, H., Apheshiotis, N., Fluegel, D. and Winkler, J.
(2003)
Somatic mosaicism and variable penetrance in doublecortin -associated migration disorders.
Neurology 60 (2), pp. 329-332.
Fulltext not available.
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