Volltext-Artikel, E-Books und Literaturhinweise aus dem EBSCO Discovery Service
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1
von Alessia Cafaro ; Antonella Riva ; Federica Pigliasco ; et al.
Epilepsia Open, Vol 10, Iss 5, Pp 1699-1704 (2025)
Schlagworte: cannabidiol; cannabis; children; epilepsy; safety; Neurology. Diseases of the nervous system; RC346-429
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von Barbone, Alessandro Santagostino ; Giacomini, Thea ; Casabona, Silvia ; et al.
In Multiple Sclerosis and Related Disorders January 2026
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3
von Chen, Siwei ; Abou-Khalil, Bassel W. ; Afawi, Zaid ; et al.
Nature Neuroscience. 27(10):1864-1879
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5
von Antonella Riva ; Roberta Roberti ; Gianluca D'Onofrio ; et al.
Epilepsia Open, Vol 8, Iss 3, Pp 1142-1150 (2023)
Schlagworte: antiseizure medications; epilepsy; pharmacogenomics; precision medicine; Neurology. Diseases of the nervous system; RC346-429
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von Feng, Yen-Chen Anne ; Howrigan, Daniel P ; Abbott, Liam E ; et al.
In eBioMedicine October 2021 72
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von Roberti, Roberta ; Riva, Antonella ; D’Onofrio, Gianluca ; et al.
Expert Review of Neurotherapeutics ; volume 24, issue 2, page 133-138 ; ISSN 1473-7175 1744-8360
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von Motelow, Joshua E. ; Povysil, Gundula ; Dhindsa, Ryan S. ; et al.
In The American Journal of Human Genetics 3 June 2021 108(6):965-982
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von Orsini, Alessandro ; Santangelo, Andrea ; Bravin, Francesca ; et al.
Schlagworte: CSNK2B; Pobind; epilepsy; neurodevelopment; seizure; Child; Developmental Disabilitie; Human; Phenotype; Retrospective Studie; Syndrome; Intellectual Disability
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von Ronzano, Nadia ; Scala, Marcello ; Abiusi, Emanuela ; et al.
In Seizure: European Journal of Epilepsy August 2022 100:82-86
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Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
von Paola Borgia ; Simona Baldassari ; Nicoletta Pedemonte ; et al.
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Schlagworte: Peroxisome biogenesis disorders; Zellweger spectrum disorder; PEX13; mitochondrial dysfunction; Medicine
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von Raviglione, Federico ; Douzgou, Sofia ; Scala, Marcello ; et al.
In Seizure: European Journal of Epilepsy May 2021 88:60-72
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von Perinelli, Martina Giorgia ; Naboni, Cecilia ; Balagura, Ganna ; et al.
Neurology Clinical Practice ; volume 14, issue 3 ; ISSN 2163-0402 2163-0933
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von Antonella Riva ; Elisabetta Amadori ; Maria Stella Vari ; et al.
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Schlagworte: Drooling; Neurological disorders; Pediatrics; Cerebral palsy; Delphi; RJ1-570
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15
von Balagura, Ganna ; Riva, Antonella ; Marchese, Francesca ; et al.
In European Journal of Paediatric Neurology September 2020 28:193-197
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
von Feng, Yen-Chen Anne ; Howrigan, Daniel P. ; Abbott, Liam E. ; et al.
In The American Journal of Human Genetics 1 August 2019 105(2):267-282
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von Epi25 Collaborative ; Chen, Siwei ; Arslan, Mutluay ; et al.
48 Seiten (2024). doi:10.1101/2023.02.22.23286310
Schlagworte: DE
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von Elisabetta Amadori ; Marcello Scala ; Giulia Sofia Cereda ; et al.
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-9 (2020)
Schlagworte: CLN2; TPP1; Targeted re-sequencing; Next generation sequencing (NGS); Early diagnosis; Epilepsy; Pediatrics; RJ1-570
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von Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L. ; et al.
Nature communications., Berlin : Nature Portfolio, 2023, vol. 14, iss. 1, art. no. 4392, p. [1-19]. ; eISSN 2041-1723
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von Antonella Riva ; Gianluca Piccolo ; Federica Balletti ; et al.
Frontiers in Pediatrics, Vol 10 (2022)
Schlagworte: acute; COVID-19; children; neurological symptoms; SARS-CoV-2; Pediatrics; RJ1-570
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22
von Marchese, Francesca ; Vari, Maria Stella ; Balagura, Ganna ; et al.
Schlagworte: cannabidiol; drug resistance; epilepsy; treatment
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von Niemi, Mari E. K. ; Karjalainen, Juha ; Daly, Mark ; et al.
Schlagworte: GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; HERITABILITY; METAANALYSIS
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von Antonella Riva ; Alice Golda ; Ganna Balagura ; et al.
Frontiers in Neurology, Vol 12 (2021)
Schlagworte: anti-seizure medications; epilepsy; genetics; inflammation; precision medicine; Neurology. Diseases of the nervous system; RC346-429
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Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
von Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta ; et al.
Orphanet Journal of Rare Diseases , 17 (1) , Article 286. (2022)
Schlagworte: Peroxisome biogenesis disorders; Zellweger spectrum disorder; PEX13; mitochondrial dysfunction
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