Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome von Meins, M, Lehmann, J, Gerresheim, F, Herchenbach, J, Hagedorn, M, Hameister, K, Epplen, J T

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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification von Rutsch, Frank, Ruf, Nico, Vaingankar, Sucheta, Toliat, Mohammad R., Suk, Anita, Höhne, Wolfgang, Schauer, Galen, Lehmann, Mandy, Roscioli, Tony, Schnabel, Dirk, Epplen, Jörg T., Knisely, Alex, Superti-Furga, Andrea, McGill, James, Filippone, Marco, Sinaiko, Alan R., Vallance, Hillary, Hinrichs, Bernd, Smith, Wendy, Ferre, Merry, Terkeltaub, Robert, Nürnberg, Peter

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Disgust in pre-clinical Huntington's disease: A longitudinal study von Sprengelmeyer, R., Schroeder, U., Young, A.W., Epplen, J.T.

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Variation in the IL7RA and IL2RA genes in German multiple sclerosis patients von Akkad, D.A, Hoffjan, S, Petrasch-Parwez, E, Beygo, J, Gold, R, Epplen, J.T

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The Wegener’s granulomatosis quantitative trait locus on chromosome 6p21.3 as characterised by tagSNP genotyping von Heckmann, M, Holle, J U, Arning, L, Knaup, S, Hellmich, B, Nothnagel, M, Jagiello, P, Gross, W L, Epplen, J T, Wieczorek, S

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Genetics of toll like receptor 9 in ANCA associated vasculitides von Husmann, C A, Holle, J U, Moosig, F, Mueller, S, Wilde, B, Cohen Tervaert, J W, Harper, L, Assmann, G, Gross, W L, Epplen, J T, Wieczorek, S

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Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients von Wieczorek, S, Hoffjan, S, Chan, A, Rey, L, Harper, L, Fricke, H, Holle, J U, Gross, W L, Epplen, J T, Lamprecht, P

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Autonomic nervous system function in Huntington's disease von Andrich, J, Schmitz, T, Saft, C, Postert, T, Kraus, P, Epplen, J T, Przuntek, H, Agelink, M W

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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype von Bauer, P, Laccone, F, Rolfs, A, Wüllner, U, Bösch, S, Peters, H, Liebscher, S, Scheible, M, Epplen, J T, Weber, B H F, Holinski-Feder, E, Weirich-Schwaiger, H, Morris-Rosendahl, D J, Andrich, J, Riess, O

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Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn’s disease von Török, H-P, Glas, J, Tonenchi, L, Lohse, P, Müller-Myhsok, B, Limbersky, O, Neugebauer, C, Schnitzler, F, Seiderer, J, Tillack, C, Brand, S, Brünnler, G, Jagiello, P, Epplen, J T, Griga, T, Klein, W, Schiemann, U, Folwaczny, M, Ochsenkühn, T, Folwaczny, C

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Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds von Schöls, Ludger, Krüger, Rejko, Amoiridis, Georgios, Przuntek, Horst, Epplen, Jörg T, Riess, Olaf

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A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation von WARNECKE, T, DUNING, T, SCHWAN, A, LOHMANN, H, EPPLEN, J. T, YOUNG, P

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Familial parkinsonism with synuclein pathology : Clinical and PET studies of A30P mutation carriers von KRÜGER, R, KUHN, W, SCHÖLS, L, EPPLEN, J. T, RIESS, O, PRZUNTEK, H, LEENDERS, K. L, SPRENGELMEYER, R, MÜLLER, T, WOITALLA, D, PORTMAN, A. T, MAGUIRE, R. P, VEENMA, L, SCHRÖDER, U

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Mutations in the calcium-sensing receptor: A new genetic risk factor for chronic pancreatitis? von Felderbauer, P., Klein, W., Bulut, K., Ansorge, N., Dekomien, G., Werner, I., Epplen, J. T., Schmitz, F., Schmidt, W. E.

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Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes? von Schöls, Ludger, Amoiridis, Georgios, Büttner, Thomas, Przuntek, Horst, Epplen, Jörg T., Riess, Olaf

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Association of UCP2 −866 G/A polymorphism with chronic inflammatory diseases von Yu, X, Wieczorek, S, Franke, A, Yin, H, Pierer, M, Sina, C, Karlsen, T H, Boberg, K M, Bergquist, A, Kunz, M, Witte, T, Gross, W L, Epplen, J T, Alarcón-Riquelme, M E, Schreiber, S, Ibrahim, S M

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Multiple sclerosis severity score : Using disability and disease duration to rate disease severity von ROXBURGH, R. H. S. R, SEAMAN, S. R, EDAN, G, MCDONNELL, G. V, HAWKINS, S, TROJANO, M, LIGUORI, M, COCCO, E, MARROSU, M. G, TESSER, F, LEONE, M. A, WEBER, A, MASTERMAN, T, ZIPP, F, MITERSKI, B, EPPLEN, J. T, OTURAI, A, SOELBERG SØRENSEN, P, CELIUS, E. G, TELLEZ LARA, N, MONTALBAN, X, VILLOSLADA, P, SILVA, A. M, HENSIEK, A. E, MARTA, M, LEITE, I, DUBOIS, B, RUBIO, J, BUTZKUEVEN, H, KILPATRICK, T, MYCKO, M. P, SELMAJ, K. W, RIO, M. E, SA, M, SAWCER, S. J, SALEMI, G, SAVETTIERI, G, HILLERT, J, COMPSTON, D. A. S, VUKUSIC, S, ACHITI, I, CONFAVREUX, C, COUSTANS, M, LE PAGE, E

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Friedreich's ataxia: Revision of the phenotype according to molecular genetics von SCHÖLS, L, AMOIRIDIS, G, PRZUNTEK, H, FRANK, G, EPPLEN, J. T, EPPLEN, C

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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease von Krüger, R, Kuhn, W, Müller, T, Woitalla, D, Graeber, M, Kösel, S, Przuntek, H, Epplen, J T, Schöls, L, Riess, O

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Increased susceptibility to sporadic Parkinson's disease by a certain combined α-synuclein/apolipoprotein E genotype von Krüger, Rejko, Menezes Vieira-Saecker, Ana Maria, Kuhn, Wilfried, Berg, Daniela, Müller, Thomas, Kühnl, Natalia, Fuchs, Gerd A., Storch, Alexander, Hungs, Marcel, Woitalla, Dirk, Przuntek, Horst, Epplen, Jörg T., Schöls, Ludger, Riess, Olaf

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