FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance

BACKGROUND AND OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is characterized by upper and lower motor neuron degeneration, with juvenile ALS (jALS) defined as disease with age at onset (AAO) before 25 years. We aimed to identify the genetic basis of 2 unrelated patients with jALS with very rapid...

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Detalles Bibliográficos
Autores principales: Goldstein, Orly, Inbar, Talya, Kedmi, Merav, Gana-Weisz, Mali, Abramovich, Beatrice, Orr-Urtreger, Avi, Drory, Vivian E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
RESEARCH Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9258982/
https://www.ncbi.nlm.nih.gov/pubmed/35812163
http://dx.doi.org/10.1212/NXG.0000000000200009

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