Publications by authors named "Eleonora Aronica"

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TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.
Brian J Joseph, Kelly A Marshall, Peter Harley, Jacob R Mann, Francesco Alessandrini, Eleonora Aronica

Nat Neurosci· December 2025

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Dynamic astrocytic complement C3 activation in the epileptic hippocampus.
Mi Jiang, Alessia Romagnolo, Eleonora Aronica, Yu Wang

Front Neurol· December 2025

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Altered somatostatin receptor 3 expression and functional dysregulation in tuberous sclerosis complex.
Mirte Scheper, Alessandro Gaeta, Gabriele Ruffolo, Lilian J Lissner, Marie Le Bihan, Eleonora Aronica

Prog Neurobiol· December 2025

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Tumor-related epilepsy in glioma: A multidisciplinary overview.
Roberto Michelucci, Giada Pauletto, Antonio Silvani, Elena Pasini, Tamara Ius, Eleonora Aronica

Epilepsia· October 2025

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Multiple sclerosis lesions exhibit sex-specific steroid changes.
Sabina Luchetti, Matthew R J Mason, Philippe Liere, Antoine Pianos, Sara Cossu, Eleonora Aronica

Neurobiol Dis· October 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Eleonora Aronica

Am J Hum Genet· October 2025

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SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.
Yan Wang, Charlotte van Dijk, Ilia Timpanaro, Paul Hop, Brendan Kenna, Eleonora Aronica

Cell Rep Methods· October 2025

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Palmitoyl-Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing-Related Human Neuronal Lipofuscin.
Max Anstötz, Sarah Tschirner, Caroline May, Steffen Kösters, Christine Martin, Eleonora Aronica

Neuropathol Appl Neurobiol· October 2025

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Emerging therapies in idiopathic inflammatory myopathies.
Merve Kocyigit, Jan Piet van Hamburg, Eleonora Aronica, Anneke J van der Kooi, Sander W Tas

J Neuromuscul Dis· October 2025

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Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.
Barbara Szewczyk, Vitaly Zimyanin, Julia Japtok, Aaron Held, Arun Pal, Eleonora Aronica

Cell Rep· September 2025

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Cell-cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia.
Mirte Scheper, Jasper J Anink, Floor E Jansen, Wim Van Hecke, Angelika Mühlebner, Eleonora Aronica

Acta Neuropathol Commun· September 2025

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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
Michele Nicastro, Alexa M C Vermeer, Pieter G Postema, Rafik Tadros, Forrest Z Bowling, Eleonora M A Aronica

Am J Hum Genet· July 2025

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Cell Lineage-Specific Differences in Clinical Behavior of Non-Functioning Pituitary Adenomas.
Loren S van der Hoeven, Tessa N A Slagboom, Arjan Malekzadeh, Jantien Hoogmoed, Madeleine L Drent, Eleonora Aronica

J Clin Endocrinol Metab· June 2025

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Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex.
Nicola Specchio, Valentina Di Micco, Mirte Scheper, Eleonora Aronica, Paolo Curatolo

EBioMedicine· June 2025

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Cleavage of the TrkB-FL receptor during epileptogenesis: insights from a kainic acid-induced model of epilepsy and human samples.
Leonor Ribeiro-Rodrigues, João Fonseca-Gomes, Sara L Paulo, Ricardo Viais, Filipa F Ribeiro, Eleonora Aronica

Pharmacol Res· May 2025

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Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia.
Sara Baldassari, Esther Klingler, Lucia Gomez Teijeiro, Marion Doladilhe, Corentin Raoux, Eleonora Aronica

Nat Neurosci· May 2025

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Cellular expression of low-density lipoprotein receptor-related protein 1 and amyloid beta deposition in human and rat epileptogenic brain.
Annemieke Rozeboom, Diede W M Broekaart, Jasper J Anink, Lynn Boonkamp, Sander Idema, Eleonora Aronica

Exp Neurol· April 2025

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The epilepsy-autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options.
Nicola Specchio, Valentina Di Micco, Eleonora Aronica, Stéphane Auvin, Simona Balestrini

Epilepsia· April 2025

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Rabies in humans: A treatment approach.
Cornelis A De Pijper, Pieter P A M van Thiel, Diederik van de Beek, Matthijs C Brouwer, Eleonora Aronica

Travel Med Infect Dis· March 2025

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Neuroglia in leukodystrophies.
Elly M Hol, Werner Dykstra, Juliette Chevalier, Eloy Cuadrado, Marianna Bugiani, Eleonora Aronica

Handb Clin Neurol· March 2025

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General pathophysiology of neuroglia.
Alexei Verkhratsky, Elly M Hol, Lot D de Witte, Eleonora Aronica

Handb Clin Neurol· March 2025

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Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes.
Alexander Haglund, Verena Zuber, Maya Abouzeid, Yifei Yang, Jeong Hun Ko, Eleonora Aronica

Nat Genet· February 2025

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IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread.
Felix Hinz, Dennis Friedel, Andrey Korshunov, Franziska M Ippen, Henri Bogumil, Eleonora Aronica

Acta Neuropathol· February 2025

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Reply to: Should we be careful with exercise in post-exertional malaise after Long COVID?
Brent Appelman, Braeden T Charlton, Richie P Goulding, Tom J Kerkhoff, Ellen A Breedveld, Eleonora Aronica

Nat Commun· February 2025

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SUMO2/3 conjugation of TDP-43 protects against aggregation.
Enza Maria Verde, Francesco Antoniani, Laura Mediani, Valentina Secco, Samuele Crotti, Eleonora Aronica

Sci Adv· February 2025

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