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Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
Rezende TJR, Adanyaguh I, Barsottini OGP, Bender B, Cendes F, Coutinho L, Deistung A, Dogan I, Durr A, Fernandez-Ruiz J, Göricke SL, Grisoli M, Hernandez-Castillo CR, Lenglet C, Mariotti C, Martinez ARM, Massuyama BK, Mochel F, Nanetti L, Nigri A, Ono SE, Öz G, Pedroso JL, Reetz K, Synofzik M, Teive H, Thomopoulos SI, Thompson PM, Timmann D, van de Warrenburg BPC, van Gaalen J, França MC Jr, Harding IH. Rezende TJR, et al. Among authors: bender b. J Neurol Neurosurg Psychiatry. 2024 Jun 17;95(7):682-690. doi: 10.1136/jnnp-2023-332696. J Neurol Neurosurg Psychiatry. 2024. PMID: 38383154 Free PMC article.
Motor protein mutations cause a new form of hereditary spastic paraplegia.
Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R. Caballero Oteyza A, et al. Among authors: bender b. Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7. Neurology. 2014. PMID: 24808017 Free PMC article.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M. Strickland AV, et al. Among authors: bender b. J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24. J Neurol. 2015. PMID: 26100331 Free PMC article.
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.
Whelan CD, Altmann A, Botía JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bartolini E, Bergo FPG, Bernardes T, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carr SJ, Chen J, Chen S, Cherubini A, David P, Domin M, Foley S, França W, Haaker G, Isaev D, Keller SS, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Langner S, Lenge M, Leyden KM, Liu M, Loi RQ, Martin P, Mascalchi M, Morita ME, Pariente JC, Rodríguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Yao Y, Yasuda CL, Zhang G, Bargalló N, Bender B, Bernasconi N, Bernasconi A, Bernhardt BC, Blümcke I, Carlson C, Cavalleri GL, Cendes F, Concha L, Delanty N, Depondt C, Devinsky O, Doherty CP, Focke NK, Gambardella A, Guerrini R, Hamandi K, Jackson GD, Kälviäinen R, Kochunov P, Kwan P, Labate A, McDonald CR, Meletti S, O'Brien TJ, Ourselin S, Richardson MP, Striano P, Thesen T, Wiest R, Zhang J, Vezzani A, Ryten M, Thompson PM, Sisodiya SM. Whelan CD, et al. Among authors: bender b. Brain. 2018 Feb 1;141(2):391-408. doi: 10.1093/brain/awx341. Brain. 2018. PMID: 29365066 Free PMC article.
Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia.
Heller C, Foiani MS, Moore K, Convery R, Bocchetta M, Neason M, Cash DM, Thomas D, Greaves CV, Woollacott IO, Shafei R, Van Swieten JC, Moreno F, Sanchez-Valle R, Borroni B, Laforce R Jr, Masellis M, Tartaglia MC, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Frisoni G, Sorbi S, Otto M, Heslegrave AJ, Zetterberg H, Rohrer JD; GENFI. Heller C, et al. J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):263-270. doi: 10.1136/jnnp-2019-321954. Epub 2020 Jan 14. J Neurol Neurosurg Psychiatry. 2020. PMID: 31937580 Free article.
811 results