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1 |
Material Type: Artigo
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The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 A 2-year follow-up studyJACOBI, H ; BAUER, P ; SCHÖLS, L ; RAKOWICZ, M ; ROLA, R ; ZDZIENICKA, E ; SCHMITZ-HUBSCH, T ; FANCELLU, R ; MARIOTTI, C ; TOMASELLO, C ; BALIKO, L ; MELEGH, B ; GIUNTI, P ; FILLA, A ; RINALDI, C ; VAN DE WARRENBURG, B. P ; VERSTAPPEN, C. C. P ; SZYMANSKI, S ; BERCIANO, J ; INFANTE, J ; TIMMANN, D ; BOESCH, S ; HERING, S ; LABRUM, R ; DEPONDT, C ; PANDOLFO, M ; KANG, J.-S ; RATZKA, S ; SCHULZ, J ; TEZENAS DU MONTCEL, S ; KLOCKGETHER, T ; SWEENEY, M. G ; CHARLES, P ; DÜRR, A ; MARELLI, C ; GLOBAS, C ; LINNEMANN, CNeurology, 2011-09, Vol.77 (11), p.1035-1041 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Spinocerebellar ataxia types 1, 2, 3, and 6 : Disease severity and nonataxia symptomsSCHMITZ-HÜBSCH, T ; COUDERT, M ; RIBAI, P ; SZYMANSKI, S ; INFANTE, J ; VAN DE WARRENBURG, B. P. C ; DÜRR, A ; TIMMANN, D ; BOESCH, S ; FANCELLU, R ; ROLA, R ; DEPONDT, C ; BAUER, P ; SCHÖLS, L ; ZDIENICKA, E ; KANG, J.-S ; DÖHLINGER, S ; KREMER, B ; STEPHENSON, D. A ; MELEGH, B ; PANDOLFO, M ; DI DONATO, S ; TEZENAS DU MONTCEL, S ; GIUNTI, P ; KLOCKGETHER, T ; GLOBAS, C ; BALIKO, L ; FILLA, A ; MARIOTTI, C ; RAKOWICZ, M ; CHARLES, PNeurology, 2008-09, Vol.71 (13), p.982-989 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literatureTarnutzer, A. A. ; Gerth-Kahlert, C. ; Timmann, D. ; Chang, D. I. ; Harmuth, F. ; Bauer, P. ; Straumann, D. ; Synofzik, M.Journal of neurology, 2015, Vol.262 (1), p.194-202 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegiaSchüle, R ; Schlipf, N ; Synofzik, M ; Klebe, S ; Klimpe, S ; Hehr, U ; Winner, B ; Lindig, T ; Dotzer, A ; Rieß, O ; Winkler, J ; Schöls, L ; Bauer, PJournal of neurology, neurosurgery and psychiatry, 2009-12, Vol.80 (12), p.1402-1404 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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The topographical distribution of epileptic spikes in juvenile myoclonic epilepsy with and without photosensitivityBauer, P.R ; Gorgels, K ; Spetgens, W ; van Klink, N.E.C ; Leijten, F.S.S ; Sander, J.W ; Visser, G.H ; Zijlmans, MClinical neurophysiology, 2017-01, Vol.128 (1), p.176-182 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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The Effects of COMT (Val108/158Met) and DRD4 (SNP −521) Dopamine Genotypes on Brain Activations Related to Valence and Magnitude of RewardsCamara, Estela ; Krämer, Ulrike M. ; Cunillera, Toni ; Marco-Pallarés, Josep ; Cucurell, David ; Nager, Wido ; Mestres-Missé, Anna ; Bauer, Peter ; Schüle, Rebecca ; Schöls, Ludger ; Tempelmann, Claus ; Rodriguez-Fornells, Antoni ; Münte, Thomas F.Cerebral cortex (New York, N.Y. 1991), 2010-08, Vol.20 (8), p.1985-1996 [Periódico revisado por pares]United States: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Prion mutation D178N with highly variable disease onset and phenotypeSynofzik, M ; Bauer, P ; Schöls, LJournal of neurology, neurosurgery and psychiatry, 2009-03, Vol.80 (3), p.345-346 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Features of probable multiple system atrophy patients identified among 4770 patients with parkinsonism enrolled in the multicentre registry of the German Competence Network on Parkinson’s diseaseWüllner, U. ; Schmitz-Hübsch, T. ; Abele, M. ; Antony, G. ; Bauer, P. ; Eggert, K.Journal of Neural Transmission, 2007-09, Vol.114 (9), p.1161-1165 [Periódico revisado por pares]Wien: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24SCHÜLE, R ; BONIN, M ; SCHÖLS, L ; DÜRR, A ; FORLANI, S ; SPERFELD, A. D ; KLIMPE, S ; MUELLER, J. C ; SEIBEL, A ; VAN DE WARRENBURG, B. P ; BAUER, PNeurology, 2009-06, Vol.72 (22), p.1893-1898 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialSchöls, Ludger ; Rattay, Tim W ; Martus, Peter ; Meisner, Christoph ; Baets, Jonathan ; Fischer, Imma ; Jägle, Christine ; Fraidakis, Matthew J ; Martinuzzi, Andrea ; Saute, Jonas Alex ; Scarlato, Marina ; Antenora, Antonella ; Stendel, Claudia ; Höflinger, Philip ; Lourenco, Charles Marques ; Abreu, Lisa ; Smets, Katrien ; Paucar, Martin ; Deconinck, Tine ; Bis, Dana M ; Wiethoff, Sarah ; Bauer, Peter ; Arnoldi, Alessia ; Marques, Wilson ; Jardim, Laura Bannach ; Hauser, Stefan ; Criscuolo, Chiara ; Filla, Alessandro ; Züchner, Stephan ; Bassi, Maria Teresa ; Klopstock, Thomas ; De Jonghe, Peter ; Björkhem, Ingemar ; Schüle, RebeccaBrain (London, England : 1878), 2017-12, Vol.140 (12), p.3112-3127 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |