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   Articles with "familial dysautonomia" as a keyword



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Longitudinal changes in the macula and optic nerve in familial dysautonomia

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recommendations! Published in 2020 at "Journal of Neurology"

DOI: 10.1007/s00415-020-10298-4

Abstract: Familial Dysautonomia (FD) disease, lacks a useful biomarker for clinical monitoring. In this longitudinal study we characterized the structural changes in the macula, peripapillary and the optic nerve head (ONH) regions in subjects with FD.… read more here.

Keywords: onh parameters; optic nerve; familial dysautonomia; nerve ... See more keywords
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Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

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recommendations! Published in 2021 at "Nature Communications"

DOI: 10.1038/s41467-021-24705-5

Abstract: Approximately half of genetic disease-associated mutations cause aberrant splicing. However, a widely applicable therapeutic strategy to splicing diseases is yet to be developed. Here, we analyze the mechanism whereby IKBKAP-familial dysautonomia (FD) exon 20 inclusion… read more here.

Keywords: therapeutic manipulation; small molecule; familial dysautonomia; manipulation ikbkap ... See more keywords
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Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial Dysautonomia (FD) patient-derived cells and healthy adults: a possible therapy for FD.

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recommendations! Published in 2022 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac133

Abstract: Recent research on Familial Dysautonomia (FD) has focused on the development of therapeutics that facilitate the production of the correctly spliced, exon 20-containing, transcript in cells and individuals bearing the splice-altering, FD-causing, mutation in the… read more here.

Keywords: transcript; familial dysautonomia; carnosol; patient ... See more keywords
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Characteristics of ataxic gait in familial dysautonomia patients

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recommendations! Published in 2018 at "PLoS ONE"

DOI: 10.1371/journal.pone.0196599

Abstract: Introduction and objectives Progressive ataxic gait is a common symptom in individuals with Familial Dysautonomia (FD). At least 50% of adults with FD require assistance with walking. Our aims were to describe the medical condition… read more here.

Keywords: gait familial; ataxic gait; characteristics ataxic; familial dysautonomia ... See more keywords
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A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations

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recommendations! Published in 2023 at "Metabolites"

DOI: 10.3390/metabo13030433

Abstract: Central metabolism has a profound impact on the clinical phenotypes and penetrance of neurological diseases such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, Amyotrophic Lateral Sclerosis (ALS) and Autism Spectrum Disorder (ASD). In contrast to… read more here.

Keywords: metabolism; familial dysautonomia; serum fecal; neurodegeneration ... See more keywords