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Št. zadetkov: 2
Far from being the end of the road
Manon Auffret, Fran Borovečki, Beatrice Heim, Wolfgang H. Jost, Per Odin, Fabrizio Stocchi, Maja Trošt, Marc Vérin
Pregledni znanstveni članek
Oznake: disease trajectories;end-of-life;neuropalliative care;palliative care;Parkinson’s disease;uncertainty;
Parkinson's disease (PD) is now recognized as a multisystem, heterogeneous neurodegenerative disease with fluctuating trajectories and complex symptom profiles. Despite therapeutic advances, many patients (particularly women and those in late stages) and their caregivers face substantial unmet needs ...
Leto: 2025 Vir: Repozitorij Univerze v Ljubljani (RUL)
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L. Taylor, Malte Spielmann, Tobias B. Haack, Matthias Gerberding, Borut Peterlin, Holm Graessner
Izvirni znanstveni članek
Oznake: next-generation sequencing;neurological disorders;genetic diagnostics;rare diseases;
In the past decade, next-generation sequencing (NGS) has revolutionised genetic diagnostics for rare neurological disorders (RND). However, the lack of standardised technical, interpretative, and reporting standards poses a challenge for ensuring consistent and high-quality diagnostics globally. To ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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