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Page 1
A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats.
Nuber S, Harmuth F, Kohl Z, Adame A, Trejo M, Schönig K, Zimmermann F, Bauer C, Casadei N, Giel C, Calaminus C, Pichler BJ, Jensen PH, Müller CP, Amato D, Kornhuber J, Teismann P, Yamakado H, Takahashi R, Winkler J, Masliah E, Riess O. Nuber S, et al. Among authors: harmuth f. Brain. 2013 Feb;136(Pt 2):412-32. doi: 10.1093/brain/aws358. Brain. 2013. PMID: 23413261 Free PMC article.
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin ML, Filla A, Roca A, Schöls L, Hengel H, Infante J, Kang JS, Timmann D, Casali C, Masciullo M, Baliko L, Melegh B, Nachbauer W, Bürk-Gergs K, Schulz JB, Riess O, Reetz K, Klockgether T. Jacobi H, et al. Among authors: harmuth f. Lancet Neurol. 2020 Sep;19(9):738-747. doi: 10.1016/S1474-4422(20)30235-0. Lancet Neurol. 2020. PMID: 32822634 Clinical Trial.
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Park J, Deininger N, Rautenberg M, Saft C, Harmuth F, Sturm M, Riess O, Schöls L, Synofzik M, Haack TB. Park J, et al. Among authors: harmuth f. Genet Med. 2021 Jun;23(6):1171-1172. doi: 10.1038/s41436-021-01104-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564152 Free PMC article. No abstract available.
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
Mademan I, Harmuth F, Giordano I, Timmann D, Magri S, Deconinck T, Claaßen J, Jokisch D, Genc G, Di Bella D, Romito S, Schüle R, Züchner S, Taroni F, Klockgether T, Schöls L, De Jonghe P, Bauer P, Consortium E, Baets J, Synofzik M. Mademan I, et al. Among authors: harmuth f. Brain. 2016 Aug;139(Pt 8):e46. doi: 10.1093/brain/aww115. Epub 2016 May 19. Brain. 2016. PMID: 27197992 Free PMC article. No abstract available.
HBOC multi-gene panel testing: comparison of two sequencing centers.
Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schröck E, Bauer P, Rump A. Schroeder C, et al. Among authors: harmuth f. Breast Cancer Res Treat. 2015 Jul;152(1):129-136. doi: 10.1007/s10549-015-3429-9. Epub 2015 May 29. Breast Cancer Res Treat. 2015. PMID: 26022348
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T. Giordano I, et al. Among authors: harmuth f. Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9. Neurology. 2017. PMID: 28794257 Clinical Trial.
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Park J, Reilaender A, Petry-Schmelzer JN, Stöbe P, Cordts I, Harmuth F, Rautenberg M, Woerz SE, Demidov G, Sturm M, Ossowski S, Schwaibold EMC, Wunderlich G, Paus S, Saft C, Haack TB. Park J, et al. Among authors: harmuth f. Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34901436 Free PMC article.
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
Miranda M, Harmuth F, Bustamante ML, Rossi M, Sturm M, Magnusson ÓT, Bauer P, Klockgether T, Ramirez A. Miranda M, et al. Among authors: harmuth f. Parkinsonism Relat Disord. 2020 Dec;81:45-47. doi: 10.1016/j.parkreldis.2020.10.004. Epub 2020 Oct 6. Parkinsonism Relat Disord. 2020. PMID: 33049588 No abstract available.
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