BRAIN - Brain : a journal of neurology
Publications
- 2024
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
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
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
- 2023
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
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
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
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
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
- 2022
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
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
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
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
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
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
- 2021
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
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, awab206Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
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
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
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
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
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
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
- 2019
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. e67Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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
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. e36Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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. e35Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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
- 2018
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
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
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. e50Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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
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
- 2017
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
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
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
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
- 2016
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
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. 1855-61Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. e28Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 1052-1065Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2015
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
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
- 2014
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. e309Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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
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
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
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
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
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