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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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