Research ExplorerScientific StaffAnnette Bley Publications

Dr.med. ID: 59676

Annette Bley

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Publications

  1. 2023

  2. 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

  3. 2022

  4. 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

  5. 2021

  6. 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

  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. 2020

  9. 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

  10. 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

  11. 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

  12. 2019

  13. 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

  14. 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

  15. 2018

  16. 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

  17. 2017

  18. 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

  19. 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

  20. 2016

  21. 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

  22. 2015

  23. 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

  24. 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

  25. 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

  26. 2014

  27. 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

  28. 2012

  29. 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

  30. 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

  31. 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

  32. 2011

  33. 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

  34. 2010

  35. 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

  36. 2007

  37. 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