From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing E Indelicato, S Boesch Frontiers in Neurology 12, 639994, 2021 | 68 | 2021 |
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study K Reetz, I Dogan, RD Hilgers, P Giunti, MH Parkinson, C Mariotti, ... The Lancet Neurology 20 (5), 362-372, 2021 | 65 | 2021 |
The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature E Indelicato, W Nachbauer, E Karner, A Eigentler, M Wagner, ... European journal of neurology 26 (1), 66-e7, 2019 | 42 | 2019 |
Onset features and time to diagnosis in Friedreich’s Ataxia E Indelicato, W Nachbauer, A Eigentler, M Amprosi, R Matteucci Gothe, ... Orphanet journal of rare diseases 15, 1-8, 2020 | 40 | 2020 |
Cerebral autoregulation and white matter lesions in Parkinson's disease and multiple system atrophy E Indelicato, A Fanciulli, W Poewe, A Antonini, FE Pontieri, GK Wenning Parkinsonism & related disorders 21 (12), 1393-1397, 2015 | 39 | 2015 |
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: clinical course and implications for treatment E Indelicato, W Nachbauer, A Eigentler, E Donnemiller, M Wagner, ... Cephalalgia 38 (6), 1167-1176, 2018 | 19 | 2018 |
SYNE1-ataxia: novel genotypic and phenotypic findings E Indelicato, W Nachbauer, C Fauth, B Krabichler, A Schossig, A Eigentler, ... Parkinsonism & related disorders 62, 210-214, 2019 | 17 | 2019 |
Autonomic function testing in Friedreich’s ataxia E Indelicato, A Fanciulli, JP Ndayisaba, W Nachbauer, A Eigentler, ... Journal of Neurology 265, 2015-2022, 2018 | 17 | 2018 |
Autonomic function testing in spinocerebellar ataxia type 2 E Indelicato, A Fanciulli, JP Ndayisaba, W Nachbauer, R Granata, ... Clinical Autonomic Research 28, 341-346, 2018 | 16 | 2018 |
Emerging therapeutics for the treatment of Friedreich’s ataxia E Indelicato, S Bösch Expert Opinion on Orphan Drugs 6 (1), 57-67, 2018 | 15 | 2018 |
Female sexual dysfunction in multiple system atrophy: a prospective cohort study C Raccagni, E Indelicato, V Sidoroff, M Daniaux, A Bader, B Toth, ... Clinical Autonomic Research 31, 713-717, 2021 | 14 | 2021 |
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients C Ashton, E Indelicato, D Pellerin, G Clément, MC Danzi, MJ Dicaire, ... Brain communications 5 (5), fcad239, 2023 | 12 | 2023 |
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes I Dzinovic, S Boesch, M Škorvánek, J Necpál, J Švantnerová, ... Parkinsonism & Related Disorders 102, 1-6, 2022 | 11 | 2022 |
Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R2 and R1 relaxometry S Straub, S Mangesius, J Emmerich, E Indelicato, W Nachbauer, ... Journal of neuroscience research 98 (11), 2219-2231, 2020 | 10 | 2020 |
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias P Cunha, E Petit, M Coutelier, G Coarelli, C Mariotti, J Faber, ... The American Journal of Human Genetics 110 (7), 1098-1109, 2023 | 9 | 2023 |
Instrumented gait analysis defines the walking signature of CACNA1A disorders E Indelicato, C Raccagni, S Runer, J Hannink, W Nachbauer, A Eigentler, ... Journal of Neurology, 1-7, 2022 | 9 | 2022 |
Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency M Amprosi, M Zech, R Steiger, W Nachbauer, A Eigentler, ER Gizewski, ... neurogenetics 22, 81-86, 2021 | 9 | 2021 |
Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue E Indelicato, M Zech, M Amprosi, S Boesch Orphanet Journal of Rare Diseases 17 (1), 55, 2022 | 8 | 2022 |
Confirmation of a causal role for SHQ1 variants in early infantile-onset recessive dystonia E Indelicato, S Boesch, M Baumgartner, B Plecko, J Winkelmann, M Zech Movement Disorders 38 (2), 355-357, 2022 | 7 | 2022 |
The electrophysiological footprint of CACNA1A disorders E Indelicato, I Unterberger, W Nachbauer, A Eigentler, M Amprosi, ... Journal of Neurology 268, 2493-2505, 2021 | 7 | 2021 |