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BRAIN - Brain : a journal of neurology

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Publications

  1. 2024

  2. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

    Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J-H., Ge, Y-H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A., Emrick, L. T., Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Zeev, B. B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 03.05.2024, In: BRAIN. 147, 5, p. 1837-1855 19 p.

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

  3. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

    Kaiyrzhanov, R., Rad, A., Lin, S-J., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., Zaki, M. S., Huang, K., Lau, T., Petree, C., Efthymiou, S., Ghayoor Karimiani, E., Hempel, M., Normand, E. A., Rudnik-Schöneborn, S., Schatz, U. A., Baggelaar, M. P., Ilyas, M., Sultan, T., Alvi, J. R., Ganieva, M., Fowler, B., Aanicai, R., Akay Tayfun, G., Al Saman, A., Alswaid, A., Amiri, N., Asilova, N., Shotelersuk, V., Yeetong, P., Azam, M., Babaei, M., Bahrami Monajemi, G., Mohammadi, P., Samie, S., Banu, S. H., Basto, J. P., Kortüm, F., Bauer, M., Bauer, P., Beetz, C., Garshasbi, M., Hameed Issa, A., Eyaid, W., Ahmed, H., Hashemi, N., Hassanpour, K., Herman, I., Ibrohimov, S., Abdul-Majeed, B. A., Imdad, M., Isrofilov, M., Kaiyal, Q., Khan, S., Kirmse, B., Koster, J., Lourenço, C. M., Mitani, T., Moldovan, O., Murphy, D., Najafi, M., Pehlivan, D., Rocha, M. E., Salpietro, V., Schmidts, M., Shalata, A., Mahroum, M., Talbeya, J. K., Taylor, R. W., Vazquez, D., Vetro, A., Waterham, H. R., Zaman, M., Schrader, T. A., Chung, W. K., Guerrini, R., Lupski, J. R., Gleeson, J., Suri, M., Jamshidi, Y., Bhatia, K. P., Vona, B., Schrader, M., Severino, M., Guille, M., Tate, E. W., Varshney, G. K., Houlden, H. & Maroofian, R., 04.04.2024, In: BRAIN. 147, 4, p. 1436–1456 21 p.

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

  4. Cross-seeding by prion protein inactivates TDP-43

    Polido, S. A., Stuani, C., Voigt, A., Banik, P., Kamps, J., Bader, V., Grover, P., Krause, L. J., Zerr, I., Matschke, J., Glatzel, M., Winklhofer, K. F., Buratti, E. & Tatzelt, J., 04.01.2024, In: BRAIN. 147, 1, p. 240-254 15 p.

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

  5. 2023

  6. Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations

    Ren, J., Huang, Y., Ren, Y., Tu, T., Qiu, B., Ai, D., Bi, Z., Bai, X., Li, F., Li, J-L., Chen, X-J., Feng, Z., Guo, Z., Lei, J., Tian, A., Cui, Z., Lindner, V., Adams, R. H., Wang, Y., Zhao, F., Körbelin, J., Sun, W., Wang, Y., Zhang, H., Hong, T. & Ge, W-P., 01.09.2023, In: BRAIN. 146, 9, p. 3634-3647 14 p.

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

  7. Subthalamic and nigral neurons are differentially modulated during parkinsonian gait

    Gulberti, A., Wagner, J. R., Horn, M. A., Reuss, J. H., Heise, M., Koeppen, J. A., Pinnschmidt, H. O., Westphal, M., Engel, A. K., Gerloff, C., Sharott, A., Hamel, W., Moll, C. K. E. & Pötter-Nerger, M., 03.07.2023, In: BRAIN. 146, 7, p. 2766-2779 14 p.

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

  8. Neurological manifestations of COVID-19 in adults and children

    Cho, S-M., White, N., Premraj, L., Battaglini, D., Fanning, J., Suen, J., Bassi, G. L., Fraser, J., Robba, C., Griffee, M., Singh, B., Citarella, B. W., Merson, L., Solomon, T., Thomson, D. & ISARIC Characterization Group, 19.04.2023, In: BRAIN. 146, 4, p. 1648-1661 14 p.

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

  9. Clinical, serological and genetic predictors of response to immunotherapy in anti-IgLON5 disease

    Grüter, T., Möllers, F. E., Tietz, A., Dargvainiene, J., Melzer, N., Heidbreder, A., Strippel, C., Kraft, A., Höftberger, R., Schöberl, F., Thaler, F. S., Wickel, J., Chung, H-Y., Seifert, F., Tschernatsch, M., Nagel, M., Lewerenz, J., Jarius, S., Wildemann, B. C., de Azevedo, L., Heidenreich, F., Heusgen, R., Hofstadt-van Oy, U., Linsa, A., Maaß, J. J., Menge, T., Ringelstein, M., Pedrosa, D. J., Schill, J., Seifert-Held, T., Seitz, C., Tonner, S., Urbanek, C., Zittel, S., Markewitz, R., Korporal-Kuhnke, M., Schmitter, T., Finke, C., Brüggemann, N., Bien, C. I., Kleiter, I., Gold, R., Wandinger, K-P., Kuhlenbäumer, G., Leypoldt, F., Ayzenberg, I. & German Network for Research on Autoimmune Encephalitis (GENERATE), 13.02.2023, In: BRAIN. 146, 2, p. 600-611 12 p.

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

  10. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

    Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Schwersenz, I., Walter, M. C., Baumann, M., Baumgartner, M., Deschauer, M., Eisenkölbl, A., Flotats-Bastardas, M., Hahn, A., Horber, V., Husain, R. A., Illsinger, S., Johannsen, J., Köhler, C., Kölbel, H., Müller, M., von Moers, A., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Stögmann, E., Trollmann, R., Vill, K., Weiß, C., Wiegand, G., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 13.02.2023, In: BRAIN. 146, 2, p. 668-677 10 p.

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

  11. 2022

  12. Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency

    Sundaram, S. M., Arrulo Pereira, A., Müller-Fielitz, H., Köpke, H., De Angelis, M., Müller, T. D., Heuer, H., Körbelin, J., Krohn, M., Mittag, J., Nogueiras, R., Prevot, V. & Schwaninger, M., 19.12.2022, In: BRAIN. 145, 12, p. 4264-4274 11 p.

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

  13. A recurrent machine learning model predicts intracranial hypertension in neurointensive care patients

    Schweingruber, N., Mader, M., Wiehe, A., Röder, F., Göttsche, J., Kluge, S., Westphal, M., Czorlich, P. & Gerloff, C., 27.08.2022, In: BRAIN. 145, 8, p. 2910-2919 10 p.

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

  14. Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

    Dahimene, S., von Elsner, L., Holling, T., Mattas, L. S., Pickard, J., Lessel, D., Pilch, K. S., Kadurin, I., Pratt, W. S., Zhulin, I. B., Dai, H., Hempel, M., Ruzhnikov, M. R. Z., Kutsche, K. & Dolphin, A. C., 27.08.2022, In: BRAIN. 145, 8, p. 2721-2729 9 p.

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

  15. ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

    Sumathipala, D., Strømme, P., Fattahi, Z., Lüders, T., Sheng, Y., Kahrizi, K., Einarsen, I. H., Sloan, J. L., Najmabadi, H., van den Heuvel, L., Wevers, R. A., Guerrero-Castillo, S., Mørkrid, L., Valayannopoulos, V., Backe, P. H., Venditti, C. P., van Karnebeek, C. D., Nilsen, H., Frengen, E. & Misceo, D., 29.07.2022, In: BRAIN. 145, 7, p. 2602-2616 15 p.

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

  16. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

    Manivannan, S. N., Roovers, J., Smal, N., Myers, C. T., Turkdogan, D., Roelens, F., Kanca, O., Chung, H-L., Scholz, T., Hermann, K., Bierhals, T., Caglayan, H. S., Stamberger, H., MAE Working Group of EuroEPINOMICS RES Consortium, Mefford, H., de Jonghe, P., Yamamoto, S., Weckhuysen, S. & Bellen, H. J., 03.06.2022, In: BRAIN. 145, 5, p. 1684-1697 14 p.

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

  17. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

    von Elsner, L., Chai, G., Schneeberger, P. E., Harms, F. L., Casar, C., Qi, M., Alawi, M., Abdel-Salam, G. M. H., Zaki, M. S., Arndt, F., Yang, X., Stanley, V., Hempel, M., Gleeson, J. G. & Kutsche, K., 24.05.2022, In: BRAIN. 145, 4, p. 1551-1563 13 p.

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

  18. 2021

  19. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    El Ghaleb, Y., Schneeberger, P. E., Fernández-Quintero, M. L., Geisler, S. M., Pelizzari, S., Polstra, A. M., van Hagen, J. M., Denecke, J., Campiglio, M., Liedl, K. R., Stevens, C. A., Person, R. E., Rentas, S., Marsh, E. D., Conlin, L. K., Tuluc, P., Kutsche, K. & Flucher, B. E., 17.08.2021, In: BRAIN. 144, 7, p. 2092-2106 15 p.

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

  20. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

    Schneeberger, P. E., Nampoothiri, S., Holling, T., Yesodharan, D., Alawi, M., Knisely, A. S., Müller, T., Plecko, B., Janecke, A. R. & Kutsche, K., 26.05.2021, In: BRAIN. 2021, awab206

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

  21. 2020

  22. No grey matter alterations in longitudinal data of migraine patients

    Mehnert, J., Schulte, L. & May, A., 05.12.2020, In: BRAIN. 143, 11, p. e93 e93.

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

  23. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

    Schneeberger, P. E., Kortüm, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., Buhas, D., Fox, S., Juusola, J., Alfadhel, M., Webb, B. D., Coci, E. G., Abou Jamra, R., Siekmeyer, M., Biskup, S., Heller, C., Maier, E. M., Javaher-Haghighi, P., Bedeschi, M. F., Ajmone, P. F., Iascone, M., Peeters, H., Ballon, K., Jaeken, J., Rodríguez Alonso, A., Palomares-Bralo, M., Santos-Simarro, F., Meuwissen, M. E. C., Beysen, D., Kooy, R. F., Houlden, H., Murphy, D., Doosti, M., Karimiani, E. G., Mojarrad, M., Maroofian, R., Noskova, L., Kmoch, S., Honzik, T., Cope, H., Sanchez-Valle, A., Undiagnosed Diseases Network, Gelb, B. D., Kurth, I., Hempel, M. & Kutsche, K., 01.08.2020, In: BRAIN. 143, 8, p. 2437-2453 17 p.

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

  24. Indirect connectome-based prediction of post-stroke deficits: prospects and limitations

    Umarova, R. & Thomalla, G., 01.07.2020, In: BRAIN. 143, 7, p. 1966-1970 5 p.

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

  25. Reply: Inhibition between human brain areas or methodological artefact?

    Toba, M. N., Malherbe, C., Godefroy, O., Rushmore, R. J., Zavaglia, M., Maatoug, R., Mandonnet, E., Valero-Cabré, A. & Hilgetag, C. C., 05.2020, In: BRAIN. 143, 5, p. e39 e39.

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

  26. Revisiting 'brain modes' in a new computational era: approaches for the characterization of brain-behavioural associations

    Toba, M. N., Godefroy, O., Rushmore, R. J., Zavaglia, M., Maatoug, R., Hilgetag, C. C. & Valero-Cabré, A., 01.04.2020, In: BRAIN. 143, 4, p. 1088-1098 11 p.

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

  27. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    Mak, C. C. Y., Doherty, D., Lin, A. E., Vegas, N., Cho, M. T., Viot, G., Dimartino, C., Weisfeld-Adams, J. D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y. A., Ehmke, N., Horn, D., Troyer, C., Kant, S. G., Lee, Y., Ishak, G. E., Leung, G., Barone Pritchard, A., Yang, S., Bend, E. G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M. G., Martin, P-M., Apple, B., Millan, F., Puk, O., Hoffer, M. J. V., Henderson, L. B., McGowan, R., Wentzensen, I. M., Pei, S., Zahir, F. R., Yu, M., Gibson, W. T., Seman, A., Steeves, M., Murrell, J. R., Luettgen, S., Francisco, E., Strom, T. M., Amlie-Wolf, L., Kaindl, A. M., Wilson, W. G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L. E. L. M., Radtke, K., Chelly, J., Zackai, E., Friedman, J. M., Bamshad, M. J., Nickerson, D. A., University of Washington Center for Mendelian Genomics, Reid, R. R., Devriendt, K., Chae, J-H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T. Y., Orenstein, N., Dobyns, W. B., Shieh, J. T., Choi, M., Waggoner, D., Gripp, K. W., Parker, M. J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T. L., Amiel, J., Chung, B. H. Y. & Gordon, C. T., 01.01.2020, In: BRAIN. 143, 1, p. 55-68 14 p.

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

  28. 2019

  29. Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

    Brenner, D., Rosenbohm, A., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.12.2019, In: BRAIN. 142, 12, p. e67

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

  30. Induction of immunological tolerance to myelinogenic glial-restricted progenitor allografts

    Li, S., Chol Oh, B., Arnold, A., Jablonska, A., Furtmüller, G., Qin, H-M., Boltze, J., Magnus, T. U., Ludewig, P., Janowski, M., Brandacher, G. & Walczak, P., 16.09.2019, In: BRAIN.

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

  31. Collateral scoring in acute stroke patients with low ASPECTS: an unnecessary or underestimated tool for treatment selection?

    Broocks, G., Fiehler, J. & Kemmling, A., 01.07.2019, In: BRAIN. 142, 7, p. e36

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

  32. Reply: Net water uptake: a new tool for the assessment of ischaemic stroke oedema

    Broocks, G., Fiehler, J. & Kemmling, A., 01.07.2019, In: BRAIN. 142, 7, p. e35

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

  33. Clinical benefit of thrombectomy in stroke patients with low ASPECTS is mediated by oedema reduction

    Broocks, G., Hanning, U., Flottmann, F., Schönfeld, M., Faizy, T. D., Sporns, P., Baumgart, M., Leischner, H., Schön, G., Minnerup, J., Thomalla, G., Fiehler, J. & Kemmling, A., 01.05.2019, In: BRAIN. 142, 5, p. 1399-1407 9 p.

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

  34. 2018

  35. Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells

    Seibler, P., Burbulla, L. F., Dulovic, M., Zittel, S., Heine, J., Schmidt, T., Rudolph, F., Westenberger, A., Rakovic, A., Münchau, A., Krainc, D. & Klein, C., 01.10.2018, In: BRAIN. 141, 10, p. 3052-3064 13 p.

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

  36. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    Lessel, D., Gehbauer, C., Bramswig, N. C., Schluth-Bolard, C., Venkataramanappa, S., van Gassen, K. L. I., Hempel, M., Haack, T. B., Baresic, A., Genetti, C. A., Funari, M. F. A., Lessel, I., Kuhlmann, L., Simon, R., Liu, P., Denecke, J., Kuechler, A., de Kruijff, I., Shoukier, M., Lek, M., Mullen, T., Lüdecke, H-J., Lerario, A. M., Kobbe, R., Krieger, T., Demeer, B., Lebrun, M., Keren, B., Nava, C., Buratti, J., Afenjar, A., Shinawi, M., Guillen Sacoto, M. J., Gauthier, J., Hamdan, F. F., Laberge, A-M., Campeau, P. M., Louie, R. J., Cathey, S. S., Prinz, I., Jorge, A. A. L., Terhal, P. A., Lenhard, B., Wieczorek, D., Strom, T. M., Agrawal, P. B., Britsch, S., Tolosa, E. & Kubisch, C., 01.08.2018, In: BRAIN. 141, 8, p. 2299-2311 13 p.

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

  37. Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

    Piard, J., Essien Umanah, G. K., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.06.2018, In: BRAIN. 141, 6, p. e50

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

  38. A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    Piard, J., Umanah, G. K. E., Harms, F. L., Abalde-Atristain, L., Amram, D., Chang, M., Chen, R., Alawi, M., Salpietro, V., Rees, M. I., Chung, S-K., Houlden, H., Verloes, A., Dawson, T. M., Dawson, V. L., Van Maldergem, L. & Kutsche, K., 01.03.2018, In: BRAIN. 141, 3, p. 651-661 11 p.

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

  39. Hot-spot KIF5A mutations cause familial ALS

    Brenner, D., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Strom, T. M., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.03.2018, In: BRAIN. 141, 3, p. 688-697 10 p.

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

  40. 2017

  41. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

    Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., Korenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Battaglia, D., Lemke, J. R., Kutsche, K. & Guerrini, R., 01.09.2017, In: BRAIN. 140, 9, p. 2322-2336 15 p.

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

  42. In and out of control brain mechanisms linking fluency of action selection to self-agency in patients with schizophrenia

    Voss, M., Chambon, V., Wenke, D., Kühn, S. & Haggard, P., 01.08.2017, In: BRAIN. 140, 8, p. 2226-2239 14 p.

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

  43. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S., Miranda, M. J., Hempel, M., Brilstra, E., Knoers, N., Verbeek, N., van Kempen, M., Braun, K. P., Mancini, G., Biskup, S., Hörtnagel, K., Döcker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Dilena, R., Fontana, E., Zara, F., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Deconinck, N., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brückner, R., Pietz, J., Golla, G., Jillella, D., Linnet, K. M., Charles, P., Moog, U., Õiglane-Shlik, E., Mantovani, J. F., Park, K., Deprez, M., Lederer, D., Mary, S., Scalais, E., Selim, L., Van Coster, R., Lagae, L., Nikanorova, M., Hjalgrim, H., Korenke, G. C., Trivisano, M., Specchio, N., Ceulemans, B., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., de Jonghe, P., Weckhuysen, S., Lemke, J. R., Krägeloh-Mann, I., Helbig, I., Kluger, G., Lerche, H. & Møller, R. S., 01.05.2017, In: BRAIN. 140, 5, p. 1316-1336 21 p.

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

  44. Phase matters: cancelling pathological tremor by adaptive deep brain stimulation

    Moll, C. K. E. & Engel, A. K., 01.2017, In: BRAIN. 140, 1, p. 5-8 4 p.

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

  45. 2016

  46. The migraine generator revisited: continuous scanning of the migraine cycle over 30 days and three spontaneous attacks

    Schulte, L. H. & May, A., 07.2016, In: BRAIN. 139, Pt 7, p. 1987-93 7 p.

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

  47. Embodied neurology: an integrative framework for neurological disorders

    Freund, P., Friston, K., Thompson, A. J., Stephan, K. E., Ashburner, J., Bach, D. R., Nagy, Z., Helms, G., Draganski, B., Mohammadi, S., Schwab, M. E., Curt, A. & Weiskopf, N., 01.06.2016, In: BRAIN. 139, Pt 6, p. 1855-61

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

  48. NEK1 mutations in familial amyotrophic lateral sclerosis

    Brenner, D., Müller, K., Wieland, T., Weydt, P., Böhm, S., Lulé, D., Hübers, A., Neuwirth, C., Weber, M., Borck, G., Wahlqvist, M., Danzer, K. M., Volk, A. E., Meitinger, T., Strom, T. M., Otto, M., Kassubek, J., Ludolph, A. C., Andersen, P. M. & Weishaupt, J. H., 01.05.2016, In: BRAIN. 139, Pt 5, p. e28

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

  49. Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile

    McDonnell, A., Schulman, B., Ali, Z., Dib-Hajj, S. D., Brock, F., Cobain, S., Mainka, T., Vollert, J., Tarabar, S. & Waxman, S. G., 26.02.2016, In: BRAIN. 139, 4, p. 1052-1065

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

  50. Widespread synaptic loss in multiple sclerosis

    Friese, M. A., 01.2016, In: BRAIN. 139, Pt 1, p. 2-4 3 p.

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

  51. 2015

  52. Multiple sclerosis associated genetic variants of CD226 impair regulatory T cell function

    Piedavent-Salomon, M., Willing, A., Engler, J. B., Steinbach, K., Bauer, S., Eggert, B., Ufer, F., Kursawe, N., Wehrmann, S., Jäger, J., Reinhardt, S. & Friese, M. A., 11.2015, In: BRAIN. 138, Pt 11, p. 3263-74 12 p.

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

  53. Parietofrontal motor pathways and their association with motor function after stroke

    Schulz, R., Koch, P., Zimerman, M., Wessel, M., Bönstrup, M., Thomalla, G., Cheng, B., Gerloff, C. & Hummel, F. C., 07.2015, In: BRAIN. 138, Pt 7, p. 1949-60 12 p.

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

  54. 2014

  55. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

    Müller, K., Andersen, P. M., Hübers, A., Marroquin, N., Volk, A. E., Danzer, K. M., Meitinger, T., Ludolph, A. C., Strom, T. M. & Weishaupt, J. H., 01.12.2014, In: BRAIN. 137, Pt 12, p. e309

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

  56. Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers

    Freischmidt, A., Müller, K., Zondler, L., Weydt, P., Volk, A. E., Božič, A. L., Walter, M., Bonin, M., Mayer, B., von Arnim, C. A. F., Otto, M., Dieterich, C., Holzmann, K., Andersen, P. M., Ludolph, A. C., Danzer, K. M. & Weishaupt, J. H., 01.11.2014, In: BRAIN. 137, 11, p. 2938-50 13 p.

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

  57. Deep brain stimulation suppresses pallidal low frequency activity in patients with phasic dystonic movements

    Barow, E., Neumann, W-J., Brücke, C., Huebl, J., Horn, A., Brown, P., Krauss, J. K., Schneider, G-H. & Kühn, A. A., 11.2014, In: BRAIN. 137, Pt 11, p. 3012-3024 13 p.

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

  58. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

    Mencacci, N. E., Isaias, I. U., Reich, M. M., Ganos, C., Plagnol, V., Polke, J. M., Bras, J., Hersheson, J., Stamelou, M., Pittman, A. M., Noyce, A. J., Mok, K. Y., Opladen, T., Kunstmann, E., Hodecker, S., Münchau, A., Volkmann, J., Samnick, S., Sidle, K., Nanji, T., Sweeney, M. G., Houlden, H., Batla, A., Zecchinelli, A. L., Pezzoli, G., Marotta, G., Lees, A., Alegria, P., Krack, P., Cormier-Dequaire, F., Lesage, S., Brice, A., Heutink, P., Gasser, T., Lubbe, S. J., Morris, H. R., Taba, P., Koks, S., Majounie, E., Raphael Gibbs, J., Singleton, A., Hardy, J., Klebe, S., Bhatia, K. P., Wood, N. W., International PSC Study Group (IPSCSG) & UCL-exomes consortium, 01.09.2014, In: BRAIN. 137, Pt 9, p. 2480-92 13 p.

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

  59. Temporal dynamics of hippocampal neurogenesis in chronic neurodegeneration

    Gomez-Nicola, D., Suzzi, S., Vargas-Caballero, M., Fransen, N. L., Al-Malki, H., Cebrian-Silla, A., Garcia-Verdugo, J. M., Riecken, K., Fehse, B. & Perry, V. H., 01.08.2014, In: BRAIN. 137, Pt 8, p. 2312-28 17 p.

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

  60. Dopamine transporter deficiency Syndrome: phenotypic spectrum from infancy to adulthood

    Ng, J., Zhen, J., Meyer, E., Erreger, K., Li, Y., Kakar, N., Ahmad, J., Thiele, H., Kubisch, C., Rider, N. L., Morton, D. H., Strauss, K. A., Puffenberger, E. G., D'Agnano, D., Anikster, Y., Carducci, C., Hyland, K., Rotstein, M., Leuzzi, V., Borck, G., Reith, M. E. A. & Kurian, M. A., 01.04.2014, In: BRAIN. 137, 4, p. 1107-19 13 p.

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

  61. High molecular mass assemblies of amyloid-β oligomers bind prion protein in patients with Alzheimer's disease

    Dohler, F., Sepulveda-Falla, D., Krasemann, S., Altmeppen, H., Schlüter, H., Hildebrand, D., Zerr, I., Matschke, J. & Glatzel, M., 01.03.2014, In: BRAIN. 137, Pt 3, p. 873-86 14 p.

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

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