Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication von FUCHS, J, NILSSON, C, GASSER, T, FARRER, M. J, KACHERGUS, J, MUNZ, M, LARSSON, E.-M, SCHÜLE, B, LANGSTON, J. W, MIDDLETON, F. A, ROSS, O. A, HULIHAN, M

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Elevated α-synuclein caused by SNCA gene triplication impairs neuronal differentiation and maturation in Parkinson's patient-derived induced pluripotent stem cells von Oliveira, L M A, Falomir-Lockhart, L J, Botelho, M G, Lin, K-H, Wales, P, Koch, J C, Gerhardt, E, Taschenberger, H, Outeiro, T F, Lingor, P, Schüle, B, Arndt-Jovin, D J, Jovin, T M

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Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure von Schüle, B, Armstrong, DD, Vogel, H, Oviedo, A, Francke, U

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Inflammatory profile discriminates clinical subtypes in LRRK2‐associated Parkinson's disease von Brockmann, K., Schulte, C., Schneiderhan‐Marra, N., Apel, A., Pont‐Sunyer, C., Vilas, D., Ruiz‐Martinez, J., Langkamp, M., Corvol, J.‐C., Cormier, F., Knorpp, T., Joos, T. O., Bernard, A., Gasser, T., Marras, C., Schüle, B., Aasly, J. O., Foroud, T., Marti‐Masso, J. F., Brice, A., Tolosa, E., Berg, D., Maetzler, W.

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Genetic heterogeneity in ten families with myoclonus-dystonia von Schüle, B, Kock, N, Svetel, M, Dragasevic, N, Hedrich, K, de Carvalho Aguiar, P, Liu, L, Kabakci, K, Garrels, J, Meyer, E-M, Berisavac, I, Schwinger, E, Kramer, P L, Ozelius, L J, Klein, C, Kostic, V

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Myoclonus-dystonia: Detection of novel, recurrent, and de novo SGCE mutations von HEDRICH, K, MEYER, E.-M, SCHWINGER, E, OZELIUS, L. J, LANDWEHRMEYER, B, STOESSL, A. J, TIJSSEN, M. A. J, KLEIN, C, SCHÜLE, B, KOCK, N, DE CARVALHO AGUIAR, P, WIEGERS, K, KOELMAN, J. H, GARRELS, J, DÜRR, R, LIU, L

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Novel features in a patient homozygous for the L347P mutation in the PINK1 gene von Doostzadeh, J, Tetrud, J.W, Allen-Auerbach, M, Langston, J.W, Schüle, B

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Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers von MARRAS, C, SCHUELE, B, CHUANG, R. S.-I, ZADIKOF, C, STEEVES, T, PRAKASH, K. M, DE BIE, R. M. A, ADELI, G, THOMSEN, T, JOHANSEN, K. K, TEIVE, H. A, ASANTE, A, MUNHOZ, R. P, REGINOLD, W, LANG, A. E, ROGAEVA, E, LANGSTON, J. W, KASTEN, M, MEANEY, C, KLEIN, C, WADIA, P. M, LIM, S.-Y

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Alterations in the common fragile site gene Parkin in ovarian and other cancers von Denison, Stacy R, Wang, Fang, Becker, Nicole A, Schüle, Birgitt, Kock, Norman, Phillips, Leslie A, Klein, Christine, Smith, David I

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Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation von Schüle, Birgitt, Oviedo, Angelica, Johnston, Kathreen, Pai, Shashidhar, Francke, Uta

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Elevated [alpha]-synuclein caused by SNCA gene triplication impairs neuronal differentiation and maturation in Parkinson's patient-derived induced pluripotent stem cells von Oliveira, L M A, Falomir-lockhart, L J, Botelho, M G, Lin, K-h, Wales, P, Koch, J C, Gerhardt, E, Taschenberger, H, Outeiro, T F, Lingor, P, Schüle, B, Arndt-jovin, D J, Jovin, T M

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Parkin gene alterations in hepatocellular carcinoma von Wang, Fang, Denison, Stacy, Lai, Jin-Ping, Philips, Leslie A., Montoya, Damien, Kock, Norman, Schüle, Birgitt, Klein, Christine, Shridhar, Viji, Roberts, Lewis R., Smith, David I.

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PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism von Klein, Christine, Djarmati, Ana, Hedrich, Katja, Schäfer, Nora, Scaglione, Cesa, Marchese, Roberta, Kock, Norman, Schüle, Birgitt, Hiller, Anja, Lohnau, Thora, Winkler, Susen, Wiegers, Karin, Hering, Robert, Bauer, Peter, Riess, Olaf, Abbruzzese, Giovanni, Martinelli, Paolo, Pramstaller, Peter P

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A reference human induced pluripotent stem cell line for large-scale collaborative studies von Pantazis, CB, Yang, A, Lara, E, McDonough, JA, Blauwendraat, C, Peng, L, Oguro, H, Kanaujiya, J, Zou, J, Sebesta, D, Pratt, G, Cross, E, Blockwick, J, Buxton, P, Kinner-Bibeau, L, Medura, C, Tompkins, C, Hughes, S, Santiana, M, Faghri, F, Nalls, MA, Vitale, D, Ballard, S, Qi, YA, Ramos, DM, Anderson, KM, Stadler, J, Narayan, P, Papademetriou, J, Reilly, L, Nelson, MP, Aggarwal, S, Rosen, LU, Kirwan, P, Pisupati, V, Coon, SL, Scholz, SW, Priebe, T, Öttl, M, Dong, J, Meijer, M, Janssen, LJM, Lourenco, VS, van der Kant, R, Crusius, D, Paquet, D, Raulin, AC, Bu, G, Held, A, Wainger, BJ, Gabriele, RMC, Casey, JM, Wray, S, Abu-Bonsrah, D, Parish, CL, Beccari, MS, Cleveland, DW, Li, E, Rose, IVL, Kampmann, M, Calatayud Aristoy, C, Verstreken, P, Heinrich, L, Chen, MY, Schüle, B, Dou, D, Holzbaur, ELF, Zanellati, MC, Basundra, R, Deshmukh, M, Cohen, S, Khanna, R, Raman, M, Nevin, ZS, Matia, M, Van Lent, J, Timmerman, V, Conklin, BR, Johnson Chase, K, Zhang, K, Funes, S, Bosco, DA, Erlebach, L, Welzer, M, Kronenberg-Versteeg, D, Lyu, G, Arenas, E, Coccia, E, Sarrafha, L, Ahfeldt, T, Marioni, JC, Skarnes, WC, Cookson, MR, Ward, ME, Merkle, FT

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Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome von Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, Gardner, R J McKinlay, Francke, Uta

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Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease von Lai, D, Alipanahi, B, Fontanillas, P, Schwantes-An, TH, Aasly, J, Alcalay, RN, Beecham, GW, Berg, D, Bressman, S, Brice, A, Brockman, K, Clark, L, Cookson, M, Das, S, Van Deerlin, V, Follett, J, Farrer, MJ, Trinh, J, Gasser, T, Goldwurm, S, Gustavsson, E, Klein, C, Lang, AE, Langston, JW, Latourelle, J, Lynch, T, Marder, K, Marras, C, Martin, ER, McLean, CY, Mejia-Santana, H, Molho, E, Myers, RH, Nuytemans, K, Ozelius, L, Payami, H, Raymond, D, Rogaeva, E, Rogers, MP, Ross, OA, Samii, A, Saunders-Pullman, R, Schüle, B, Schulte, C, Scott, WK, Tanner, C, Tolosa, E, Tomkins, JE, Vilas, D, Trojanowski, JQ, Uitti, R, Vance, JM, Visanji, NP, Wszolek, ZK, Zabetian, CP, Mirelman, A, Giladi, N, Orr Urtreger, A, Cannon, P, Fiske, B, Foroud, T, Agee, M, Auton, A, Bell, RK, Bryc, K, Elson, SL, Furlotte, NA, Hinds, DA, Huber, KE, Kleinman, A, Litterman, NK, McIntyre, MH, Mountain, JL, Noblin, ES, Northover, CAM, Pitts, SJ, Fah Sathirapongsasuti, J, Sazonova, OV, Shelton, JF, Shringarpure, S, Tian, C, Tung, JY, Vacic, V, Wilson, CH

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Follow-up control of ultrasonographic neonatal screening of the hip von Schüle, B, Wissel, H, Neumann, W, Merk, H

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Clinical and genetic features of myoclonus-dystonia in 3 cases: A video presentation von Kock, Norman, Kasten, Meike, Schüle, Birgitt, Hedrich, Katja, Wiegers, Karin, Kabakci, Kemal, Hagenah, Johann, Pramstaller, Peter P., Nitschke, Matthias F., Münchau, Alexander, Sperner, Jürgen, Klein, Christine

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Phase-I trial of intravenous continuous infusion of tumor necrosis factor in advanced metastatic carcinomas von WIEDENMANN, B, REICHARDT, P, RÄTH, U, THEILMAN, L, SCHÜLE, B, HO, A. D, SCHLICK, E, KEMPENI, J, HUNSTEIN, W, KOMMERELL, B

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The distribution of fibronectin in lymph nodes infiltrated by Hodgkin's disease: An immunoperoxidase study on paraffin sections von M ller, P., Achtst tter, H., Butzengeiger, M., Sch le, B.

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