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Florian Harmuth

University of Tübingen

15

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293

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Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.

2021 Genetics in Medicine
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Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

2020 Neurology Genetics
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Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.

2020 Parkinsonism & Related Disorders
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Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.

2020 Lancet Neurology
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De novo ITPR1 variants are a cause of early-onset ataxia

2018
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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

2018 European Journal of Human Genetics
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Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

2017 Neurology
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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

2017 Clinical Genetics
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Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.

2016 Movement Disorders
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Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature

2015 Journal of Neurology
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Citations (23)