Visualitza per autoria "Schlüter, Agatha"

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  • Case report: benign infantile seizures temporally associated with COVID-19
    García Howard, Marcos; Herranz Aguirre, Mercedes; Moreno Galarraga, Laura; Urretavizcaya Martínez, María; Alegría Echauri, Josune; Gorría Redondo, Nerea; Planas Serra, Laura; Schlüter, Agatha; Gut, Marta; Pujol, Aurora, 1968-; Aguilera Albesa, Sergio (Frontiers, 2020)
    Background: Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild gastroenteritis or respiratory tract infections, and are linked to a ...
  • ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
    Schlüter, Agatha; Bullich, Gemma; Beltran, Sergi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968- (BioMed Central, 2023)
    Background: Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms ...
  • Diagnosis of genetic white matter disorders by Singleton whole-exome and genome sequencing using interactome-driven prioritization
    Schlüter, Agatha; Beltran, Sergi; Gut, Marta; Pérez Jurado, Luis Alberto; GWMD working group (Lippincott Williams & Wilkins, 2022)
    Background and objectives: Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. ...
  • Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model
    Ranea-Robles, Pablo; Galino, Jorge; Espinosa Blay, Lluís; Schlüter, Agatha; Ruiz, Montserrat; Calingasan, Noel Ylagan; Villarroya, Francesc; Naudí, Alba; Pamplona, Reinald; Ferrer, Isidre; Beal, M. Flint; Portero Otín, Manuel; Fourcade, Stéphane; Pujol, Aurora, 1968- (Wiley, 2022)
    Aims: Mitochondrial dysfunction and inflammation are at the core of axonal degeneration in several multifactorial neurodegenerative diseases, including multiple sclerosis, Alzheimer's disease, and Parkinson's disease. The ...

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