Research ExplorerScientific StaffAnnette Bley Publications

Dr.med. ID: 59676

Annette Bley

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  1. SCORING: Journal article › Research › Not peer-reviewed

  2. Correction to Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease

    Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 10.2019, In: ACTA NEUROPATHOL. 138, 4, p. 673-674 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research

  3. SCORING: Journal article › Research › Peer-reviewed

  4. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    Harms, F. L., Kloth, K., Bley, A., Denecke, J., Santer, R., Lessel, D., Hempel, M. & Kutsche, K., 04.10.2018, In: AM J HUM GENET. 103, 4, p. 579-591 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

    Weinhofer, I., Rommer, P., Gleiss, A., Ponleitner, M., Zierfuss, B., Waidhofer-Söllner, P., Fourcade, S., Grabmeier-Pfistershammer, K., Reinert, M-C., Göpfert, J., Heine, A., Yska, H. A. F., Casasnovas, C., Cantarín, V., Bergner, C. G., Mallack, E., Forss-Petter, S., Aubourg, P., Bley, A., Engelen, M., Eichler, F., Lund, T. C., Pujol, A., Köhler, W., Kühl, J-S. & Berger, J., 10.2023, In: EBIOMEDICINE. 96, p. 104781

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

    Günther, C., Kind, B., Reijns, M. A. M., Berndt, N., Martinez-Bueno, M., Wolf, C., Tüngler, V., Chara, O., Lee, Y. A., Hübner, N., Bicknell, L., Blum, S., Krug, C., Schmidt, F., Kretschmer, S., Koss, S., Astell, K. R., Ramantani, G., Bauerfeind, A., Morris, D. L., Cunninghame Graham, D. S., Bubeck, D., Leitch, A., Ralston, S. H., Blackburn, E. A., Gahr, M., Witte, T., Vyse, T. J., Melchers, I., Mangold, E., Nöthen, M. M., Aringer, M., Kuhn, A., Lüthke, K., Unger, L., Bley, A., Lorenzi, A., Isaacs, J. D., Alexopoulou, D., Conrad, K., Dahl, A., Roers, A., Alarcon-Riquelme, M. E., Jackson, A. P. & Lee-Kirsch, M. A., 01.2015, In: J CLIN INVEST. 125, 1, p. 413-424 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., de Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M-F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M., Vanderver, A., Martos-Moreno, G. Á., Polychronakos, C., Wolf, N. I. & Bernard, G., 23.01.2021, In: J CLIN ENDOCR METAB. 106, 2, p. e660-e674 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

    Kohlschütter, A., Finckh, B., Nickel, M., Bley, A. & Hübner, C., 2020, In: NEURODEGENER DIS. 20, 1, p. 35-38 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F-G., De Giorgis, V., Denecke, J., Doummar, D., Drake Af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M-C., Oppermann, I., Pérez-Dueñas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S. & Crow, Y. J., 04.2020, In: HUM MUTAT. 41, 4, p. 837-849 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.

    Ding, X-Q., Bley, A., Ohlenbusch, A., Kohlschütter, A., Fiehler, J., Zhu, W. & Lanfermann, H., 04.2012, In: J MAGN RESON IMAGING. 35, 4, p. 926-932 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease

    Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 07.2019, In: ACTA NEUROPATHOL. 138, 1, p. 147-161 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort

    Kehrer, C., Groeschel, S., Kustermann-Kuhn, B., Bürger, F., Köhler, W., Kohlschütter, A., Bley, A., Steinfeld, R., Gieselmann, V., Krägeloh-Mann, I. & German LEUKONET, 05.02.2014, In: ORPHANET J RARE DIS. 9, p. 18

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

    Kohlschütter, A., Bley, A., Brockmann, K., Gärtner, J., Krägeloh-Mann, I., Rolfs, A. & Schöls, L., 02.2010, In: BRAIN DEV-JPN. 32, 2, p. 82-89 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

    Steenweg, M. E., Ghezzi, D., Haack, T., Abbink, T. E. M., Martinelli, D., van Berkel, C. G. M., Bley, A., Diogo, L., Grillo, E., Te Water Naudé, J., Strom, T. M., Bertini, E., Prokisch, H., van der Knaap, M. S. & Zeviani, M., 05.2012, In: BRAIN. 135, Pt 5, p. 1387-94 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

    Groeschel, S., Kühl, J-S., Bley, A. E., Kehrer, C., Weschke, B., Döring, M., Böhringer, J., Schrum, J., Santer, R., Kohlschütter, A., Krägeloh-Mann, I. & Müller, I., 01.09.2016, In: JAMA NEUROL. 73, 9, p. 1133-40

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course

    Groeschel, S., Kehrer, C., Engel, C., I Dali, C., Bley, A., Steinfeld, R., Grodd, W. & Krägeloh-Mann, I., 10.2011, In: J INHERIT METAB DIS. 34, 5, p. 1095-102 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. PIGN encephalopathy: Characterizing the epileptology

    Bayat, A., de Valles-Ibáñez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., des Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M. S., Jezela-Stanek, A., Jouk, P-S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J. R., Li, H., Martinez, F., Maxton, C., Mefford, H. C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L. E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E. M. C., Stegmann, A. P. A., Stumpel, C. T., Szczepanik, E., Terczyńska, I., Thevenon, J., Tzschach, A., Van Bogaert, P., Vittorini, R., Walsh, S., Weckhuysen, S., Weissman, B., Wolfe, L., Reymond, A., De Nittis, P., Poduri, A., Olson, H., Striano, P., Lesca, G., Scheffer, I. E., Møller, R. S. & Sadleir, L. G., 04.2022, In: EPILEPSIA. 63, 4, p. 974-991 18 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. POLR3A and POLR3B Mutations in Unclassified Hypomyelination

    Cayami, F. K., La Piana, R., van Spaendonk, R. M. L., Nickel, M., Bley, A., Guerrero, K., Tran, L. T., van der Knaap, M. S., Bernard, G. & Wolf, N. I., 06.2015, In: NEUROPEDIATRICS. 46, 3, p. 221-7 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. The natural history of Canavan disease: 23 new cases and comparison with patients from literature

    Bley, A., Denecke, J., Kohlschütter, A., Schön, G., Hischke, S., Guder, P., Bierhals, T., Lau, H., Hempel, M. & Eichler, F. S., 19.05.2021, In: ORPHANET J RARE DIS. 16, 1, p. 227

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Use of monoclonal antibodies to assess expression of anaphylatoxin receptors in tubular epithelial cells of human, murine and rat kidneys

    Kiafard, Z., Tschernig, T., Schweyer, S., Bley, A., Neumann, D. & Zwirner, J., 2007, In: IMMUNOBIOLOGY. 212, 2, p. 129-39 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Vorinostat in the acute neuroinflammatory form of X-linked adrenoleukodystrophy

    Zierfuss, B., Weinhofer, I., Kühl, J-S., Köhler, W., Bley, A., Zauner, K., Binder, J., Martinović, K., Seiser, C., Hertzberg, C., Kemp, S., Egger, G., Leitner, G., Bauer, J., Wiesinger, C., Kunze, M., Forss-Petter, S. & Berger, J., 05.2020, In: ANN CLIN TRANSL NEUR. 7, 5, p. 639-652 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

    Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., Humphray, S., Kimura-Ohba, S., Kingsbury, Z., Lajoie, B. R., Lal, D., Micha, D., Pizzino, A., Sinke, R. J., Sival, D., Stolte-Dijkstra, I., Superti-Furga, A., Ulrick, N., Taft, R. J., Ogata, T., Ozono, K., Matsumoto, N., Neubauer, B. A., Simons, C. & Vanderver, A., 12.2017, In: NEUROGENETICS. 18, 4, p. 185-194 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. SCORING: Journal article › Transfer › Peer-reviewed

  24. Demenzerkrankungen bei Kindern und Jugendlichen

    Kohlschütter, A., Schulz, A., Bley, A., Nickel, M. & Richterich, A., 2015, In: Päd Praxis. 83, p. 561-570

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review

  25. Other (editorial matter etc.) › Research

  26. Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation.

    Ding, X-Q., Bley, A., Kohlschütter, A., Fiehler, J. & Lanfermann, H., 01.2012, In: AM J MED GENET A. 158A, 1, p. 257-60 4 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  27. Conference abstract in journal › Research › Peer-reviewed

  28. The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature

    Bohnenpoll, J., Eichler, F. S., Schoen, G., Hischke, S., Denecke, J., Hempel, M., Kohlschütter, A. & Bley, A., 2017, In: NEUROPEDIATRICS. 48, S 01, p. 26 26 p.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review