The use of digital tools in rare neurological diseases towards a new care model: a narrative review
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DOI: 10.1007/s10072-024-07631-4
Abstract: Rare neurological diseases as a whole share peculiar features as motor and/or cognitive impairment, an elevated disability burden, a frequently chronic course and, in present times, scarcity of therapeutic options. The rarity of those conditions… read more here.
Keywords: neurological diseases; care; rare neurological; use digital ... See more keywords
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.16165
Abstract: This is the first of three articles exploring the aspects of clinical care for children with rare neurological disorders including uncertainties old and new. The disruptive technologies of genomic sequencing and advanced therapeutics such as… read more here.
Keywords: children rare; parents children; neurological disorders; rare neurological ... See more keywords
Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases
Sign Up to like & getrecommendations! Published in 2021 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01641-z
Abstract: Background Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey… read more here.
Keywords: patient representatives; research; research priorities; disease ... See more keywords
A survey of registered pharmacological clinical trials on rare neurological diseases in children in 2010–2020
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.963601
Abstract: Objective To clarify the current state of methodology of clinical trials for rare neurological diseases in children, and to provide a basis for the further optimization of the trial design. Methods Data of clinical trials… read more here.
Keywords: clinical trials; methodology; trials rare; rare neurological ... See more keywords
Disease Modeling of Rare Neurological Disorders in Zebrafish
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DOI: 10.3390/ijms23073946
Abstract: Rare diseases are those which affect a small number of people compared to the general population. However, many patients with a rare disease remain undiagnosed, and a large majority of rare diseases still have no… read more here.
Keywords: modeling rare; neurological disorders; rare neurological; disease modeling ... See more keywords
Diet and Nutrients in Rare Neurological Disorders: Biological, Biochemical, and Pathophysiological Evidence
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DOI: 10.3390/nu16183114
Abstract: Background/Objectives: Rare diseases are a wide and heterogeneous group of multisystem life-threatening or chronically debilitating clinical conditions with reduced life expectancy and a relevant mortality rate in childhood. Some of these disorders have typical neurological… read more here.
Keywords: diet nutrients; biochemical pathophysiological; neurological disorders; rare neurological ... See more keywords