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F. Harmuth · SciRah

Researcher profile · Semantic Scholar

F. Harmuth

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F. Harmuth — researcher profile on SciRah

h-index: 13
Works: 30
Citations: 644

Most-cited papers

A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats.
S. Nuber, F. Harmuth, Z. Kohl, A. Adame +18 more
2013Brain : a journal of neurology149 citations Open access
Semantic Scholar
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
I. Giordano, F. Harmuth, H. Jacobi, B. Paap +24 more
2017Neurology56 citations Open access
Semantic Scholar
Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity
W. Ilg, Zofia Fleszar, Cornelia Schatton, H. Hengel +6 more
2016Movement Disorders56 citations Open access
Semantic Scholar
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
H. Jacobi, S. T. du Montcel, S. Romanzetti, F. Harmuth +23 more
2020Lancet Neurology46 citations Open access
Semantic Scholar
HBOC multi-gene panel testing: comparison of two sequencing centers
C. Schroeder, U. Faust, M. Sturm, K. Hackmann +16 more
2015Breast Cancer Research and Treatment45 citations
Semantic Scholar
Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature
A. Tarnutzer, C. Gerth-Kahlert, D. Timmann, D. Chang +4 more
2014Journal of Neurology44 citations Open access
Semantic Scholar
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
I. Mademan, F. Harmuth, I. Giordano, D. Timmann +17 more
2016Brain : a journal of neurology42 citations Open access
Semantic Scholar
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
M. Synofzik, K. Helbig, F. Harmuth, T. Deconinck +16 more
2018European Journal of Human Genetics40 citations Open access
Semantic Scholar
PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA
Burcak Ozes, Nazan Karagöz, R. Schüle, A. Rebelo +13 more
2017Clinical Genetics40 citations Open access
Semantic Scholar
Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia
Annika Thierfelder, J. Seemann, N. John, F. Harmuth +6 more
2022Movement Disorders34 citations Open access
Semantic Scholar
NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening
M. Synofzik, F. Harmuth, Miriam Stampfer, Jennifer Müller vom Hagen +2 more
2015Journal of Neurology26 citations
Semantic Scholar
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort
D. Beijer, D. Mengel, Demet Önder, C. Wilke +28 more
2025EBioMedicine16 citations Open access
Semantic Scholar
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia
Joohyun Park, Annemarie Reilaender, J. Petry-Schmelzer, P. Stöbe +12 more
2021Neurology: Genetics13 citations Open access
Semantic Scholar
First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual
Iulian V Podar, Daniel Gutmann, F. Harmuth, T. Haack +5 more
2023European Journal of Neurology9 citations
Semantic Scholar
Capture of Longitudinal Change in Real‐Life Walking in Cerebellar Ataxia Increases Patient Relevance and Effect Size
J. Seemann, Theresa Beyme, N. John, F. Harmuth +5 more
2025Movement Disorders8 citations Open access
Semantic Scholar
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
M. Miranda, F. Harmuth, M. L. Bustamante, M. Rossi +5 more
2020Parkinsonism & Related Disorders7 citations Open access
Semantic Scholar
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation
V. Tüngler, M. Doebler-Neumann, Michaela Salandin, P. Kaufmann +7 more
2019Neurology: Genetics6 citations Open access
Semantic Scholar
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.
H. Hengel, Shabab B. Hannan, S. Reich, D. Beijer +31 more
2025Brain : a journal of neurology4 citations Open access
Semantic Scholar
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, R. D. Incebacak Eltemur, G. Demidov, Marc Sturm +137 more
2026Nature Communications3 citations Open access
Semantic Scholar
Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.
Joohyun Park, Natalie Deininger, M. Rautenberg, C. Saft +6 more
2021Genetics in Medicine3 citations Open access
Semantic Scholar
The impact of bilingualism on cognitive functions across the lifespan and in brain diseases
M. Synofzik, F. Harmuth, S. Züchner, L. Schöls +2 more
20161 citations
Semantic Scholar
Diagnostic Evaluation of Mitochondrial DNA Disease Across Diverse Sequencing Approaches
A. Amaya, I. Bader, M. Pogoda, S. Peralta +6 more
2026Neuropediatrics0 citations
Semantic Scholar
149P Validation of diagnostic whole genome sequencing of formalin-fixed paraffin-embedded (FFPE) tumors for personalized treatment decision in molecular tumor boards
N. Ballin, A. Ott, M. Pogoda, F. Harmuth +6 more
2025ESMO Open0 citations Open access
Semantic Scholar
Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.
Joohyun Park, Natalie Deininger, M. Rautenberg, C. Saft +6 more
2021Genetics in Medicine0 citations Open access
Semantic Scholar
De Novo ITPR1 Variants Are a Cause of Early-Onset Ataxia
M. Synofzik, J. Gburek-Augustat, S. Zuchner, I. Krägeloh-mann +16 more
20180 citations
Semantic Scholar
FW 013 Assessing tissue damage and repair in multiple sclerosis by positron emission tomography
M. Synofzik, F. Harmuth, S. Züchner, L. Schöls +2 more
20160 citations
Semantic Scholar
Focused Workshop
F. Harmuth, S. Züchner, L. Schöls, P. Bauer +1 more
20160 citations
Semantic Scholar
Boucher Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism - two novel cases and a review of 40 cases from the literature (P2.110)
A. Tarnutzer, C. Gerth-Kahlert, Dagmar Timmann-Braun, D. Chang +4 more
2015Neurology0 citations
Semantic Scholar
2 – Modified Klein-Gordon Equation
F. Harmuth, B. Meffert
20050 citations
Semantic Scholar
4 - Klein-Gordon Difference Equation for Small Distances
F. Harmuth, B. Meffert
20050 citations
Semantic Scholar

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