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Elisabetta Indelicato
Elisabetta Indelicato
在 i-med.ac.at 的电子邮件经过验证
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引用次数
引用次数
年份
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
682021
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
652021
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
422019
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
402020
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
392015
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
192018
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
172019
Autonomic function testing in Friedreich’s ataxia
E Indelicato, A Fanciulli, JP Ndayisaba, W Nachbauer, A Eigentler, ...
Journal of Neurology 265, 2015-2022, 2018
172018
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
162018
Emerging therapeutics for the treatment of Friedreich’s ataxia
E Indelicato, S Bösch
Expert Opinion on Orphan Drugs 6 (1), 57-67, 2018
152018
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
142021
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
122023
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
112022
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
102020
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
92023
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
92022
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
92021
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
82022
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
72022
The electrophysiological footprint of CACNA1A disorders
E Indelicato, I Unterberger, W Nachbauer, A Eigentler, M Amprosi, ...
Journal of Neurology 268, 2493-2505, 2021
72021
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