Elongator Protein 1 as a Biomarker of Disease Severity in Familial Dysautonomia (S9.004)

To evaluate whether blood ELP1 levels correlate with sensory and motor nerve function and could serve as a biomarker.

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Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000212329
Primary Topic
Hereditary Neurological Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Elongator Protein 1 as a Biomarker of Disease Severity in Familial Dysautonomia (S9.004)

Maria Luisa Cotrina, Maria Alejandra Gonzalez Duarte, Lucy Norcliffe‐Kaufmann, Horacio Kaufmann et al.
Neurology
Hereditary Neurological Disorders
article

Elongator Protein 1 as a Biomarker of Disease Severity in Familial Dysautonomia (S9.004)

Maria Luisa Cotrina, Maria Alejandra Gonzalez Duarte, Lucy Norcliffe‐Kaufmann, Horacio Kaufmann, Kaia Dalamo, Joel Gutiérrez
article en

Abstract

To evaluate whether blood ELP1 levels correlate with sensory and motor nerve function and could serve as a biomarker.

NeurologyVol. 104(7_Supplement_1)
NYU Langone Health (US), Hinge Health (US), Theravance Biopharma (United States) (US), Dysautonomia Foundation (US)
Zero hunger
Openalex Percentile: Top 92%
Hereditary Neurological Disorders
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