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2023 3
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Page 1
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation.
Faber J, Kügler D, Bahrami E, Heinz LS, Timmann D, Ernst TM, Deike-Hofmann K, Klockgether T, van de Warrenburg B, van Gaalen J, Reetz K, Romanzetti S, Oz G, Joers JM, Diedrichsen J; ESMI MRI Study Group; Reuter M. Faber J, et al. Neuroimage. 2022 Dec 1;264:119703. doi: 10.1016/j.neuroimage.2022.119703. Epub 2022 Oct 27. Neuroimage. 2022. PMID: 36349595 Free PMC article.
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Santana MM, Gaspar LS, Pinto MM, Silva P, Adão D, Pereira D, Ribeiro JA, Cunha I, Huebener-Schmid J, Raposo M, Ferreira AF, Faber J, Kuhs S, Garcia-Moreno H, Reetz K, Thieme A, Infante J, van de Warrenburg BPC, Giunti P, Riess O, Schöls L, Lima M, Klockgether T, Januário C, de Almeida LP; European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative Study Group. Santana MM, et al. Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12892. doi: 10.1111/nan.12892. Neuropathol Appl Neurobiol. 2023. PMID: 36798010 Free PMC article.
The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients.
Thieme A, Faber J, Sulzer P, Reetz K, Dogan I, Barkhoff M, Krahe J, Jacobi H, Aktories JE, Minnerop M, Elben S, van der Veen R, Müller J, Batsikadze G, Konczak J, Synofzik M, Roeske S, Timmann D. Thieme A, et al. Among authors: krahe j. J Neurol. 2022 Aug;269(8):4363-4374. doi: 10.1007/s00415-022-11071-5. Epub 2022 Apr 1. J Neurol. 2022. PMID: 35364683 Free PMC article.
22 results