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

OBJECTIVE: To characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms. METHODS: We collected serum samples from a cohort of 49 patients with SMAJ, all carriers of the heterozygo...

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Detalles Bibliográficos
Autores principales: Järvilehto, Julius, Harjuhaahto, Sandra, Palu, Edouard, Auranen, Mari, Kvist, Jouni, Zetterberg, Henrik, Koskivuori, Johanna, Lehtonen, Marko, Saukkonen, Anna Maija, Jokela, Manu, Ylikallio, Emil, Tyynismaa, Henna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891230/
https://www.ncbi.nlm.nih.gov/pubmed/35250809
http://dx.doi.org/10.3389/fneur.2022.793937

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891230/
https://www.ncbi.nlm.nih.gov/pubmed/35250809
http://dx.doi.org/10.3389/fneur.2022.793937

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