Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

ObjectiveTo characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms.MethodsWe collected serum samples from a cohort of 49 patients with SMAJ, all carriers of the heterozygous c....

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Bibliographic Details
Main Authors: Julius Järvilehto, Sandra Harjuhaahto, Edouard Palu, Mari Auranen, Jouni Kvist, Henrik Zetterberg, Johanna Koskivuori, Marko Lehtonen, Anna Maija Saukkonen, Manu Jokela, Emil Ylikallio, Henna Tyynismaa
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Neurology
Subjects:
biomarker
NEFL
CHCHD10
SMAJ
creatine
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.793937/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.793937/full

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