Search Results - "Leyva‐Gutiérrez, Alejandra"

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4 by Kessler, Christoph, Serna‐Higuita, Lina Maria, Wilke, Carlo, Rattay, Tim W., Hengel, Holger, Reichbauer, Jennifer, Stransky, Elke, Leyva‐Gutiérrez, Alejandra, Mengel, David, Synofzik, Matthis, Schöls, Ludger, Martus, Peter, Schüle, Rebecca

“…Objective While the anticipated rise of disease‐modifying therapies calls for reliable trial outcome parameters, fluid biomarkers are lacking in spastic…”
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A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype by Mengel, David, Traschütz, Andreas, Reich, Selina, Leyva-Gutiérrez, Alejandra, Bender, Friedemann, Hauser, Stefan, Haack, Tobias B., Synofzik, Matthis

“…Background Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants…”
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