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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. Among authors: van de warrenburg bpc. Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12892. doi: 10.1111/nan.12892. Neuropathol Appl Neurobiol. 2023. PMID: 36798010 Free PMC article.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
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.
Stage-dependent biomarker changes in spinocerebellar ataxia type 3.
Faber J, Berger M, Carlo W, Hübener-Schmid J, Schaprian T, Santana MM, Grobe-Einsler M, Onder D, Koyak B, Giunti P, Garcia-Moreno H, Gonzalez-Robles C, Lima M, Raposo M, Melo ARV, de Almeida LP, Silva P, Pinto MM, van de Warrenburg BP, van Gaalen J, de Vries J, Jeroen, Oz G, Joers JM, Synofzik M, Schöls L, Riess O, Infante J, Manrique L, Timmann D, Thieme A, Jacobi H, Reetz K, Dogan I, Onyike C, Povazan M, Schmahmann J, Ratai EM, Schmid M, Klockgether T. Faber J, et al. medRxiv [Preprint]. 2023 Apr 25:2023.04.21.23287817. doi: 10.1101/2023.04.21.23287817. medRxiv. 2023. PMID: 37163081 Free PMC article. Updated. Preprint.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.
Ferreira M, Schaprian T, Kügler D, Reuter M, Deike-Hoffmann K, Timmann D, Ernst TM, Giunti P, Garcia-Moreno H, van de Warrenburg B, van Gaalen J, de Vries J, Jacobi H, Steiner KM, Öz G, Joers JM, Onyike C, Povazan M, Reetz K, Romanzetti S, Klockgether T, Faber J. Ferreira M, et al. Cerebellum. 2024 Feb 16. doi: 10.1007/s12311-024-01659-0. Online ahead of print. Cerebellum. 2024. PMID: 38363498
187 results