A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum

Amyotrophic lateral sclerosis (ALS) belongs to the ALS-frontotemporal dementia (FTD) spectrum and is hallmarked by upper and lower motor neuron degeneration. Here, we present a patient with a cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) pathogenic variant who fulfilled the ALS El Escorial criteria,...

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Detalles Bibliográficos
Autores principales: Mentis, Alexios-Fotios A., Vlachakis, Dimitrios, Papakonstantinou, Eleni, Zaganas, Ioannis, Patrinos, George P., Chrousos, George P., Dardiotis, Efthimios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958913/
https://www.ncbi.nlm.nih.gov/pubmed/34535505
http://dx.doi.org/10.1101/mcs.a006096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958913/
https://www.ncbi.nlm.nih.gov/pubmed/34535505
http://dx.doi.org/10.1101/mcs.a006096

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