Florian Harmuth
University of Tübingen(DE)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Parkinson's Disease Mechanisms and Treatments, Neurological diseases and metabolism, DNA Repair Mechanisms
Most-Cited Works
- → A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats(2013)168 cited
- → Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity(2016)66 cited
- → Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia(2017)58 cited
- → Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study(2020)51 cited
- → MultisystemicSYNE1ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum(2016)48 cited
- → Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature(2014)47 cited
- → PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia(2017)46 cited
- → HBOC multi-gene panel testing: comparison of two sequencing centers(2015)45 cited
- → De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function(2018)43 cited
- → Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia(2022)40 cited