Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), we used ExpansionHunter, REviewer, and polymerase chain reaction validation to assess 21...

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Detalles Bibliográficos
Autores principales: Henden, Lyndal, Fearnley, Liam G., Grima, Natalie, McCann, Emily P., Dobson-Stone, Carol, Fitzpatrick, Lauren, Friend, Kathryn, Hobson, Lynne, Chan Moi Fat, Sandrine, Rowe, Dominic B., D’Silva, Susan, Kwok, John B., Halliday, Glenda M., Kiernan, Matthew C., Mazumder, Srestha, Timmins, Hannah C., Zoing, Margaret, Pamphlett, Roger, Adams, Lorel, Bahlo, Melanie, Blair, Ian P., Williams, Kelly L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162670/
https://www.ncbi.nlm.nih.gov/pubmed/37146135
http://dx.doi.org/10.1126/sciadv.ade2044

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