A novel splice site FUS mutation in a familial ALS case: effects on protein expression-Reference-Cited by-同舟云学术

A novel splice site FUS mutation in a familial ALS case: effects on protein expression

Published:2021-04-21 Issue:1-2 Volume:23 Page:128-136
ISSN:2167-8421
Container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
language:en
Short-container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Author:

Canosa Antonio¹²^ORCID,Lomartire Annarosa¹,De Marco Giovanni¹²^ORCID,Grassano Maurizio¹,Brunetti Maura¹,Manera Umberto¹,Vasta Rosario¹^ORCID,Salamone Paolina¹,Fuda Giuseppe¹,Sbaiz Luca³,Gallone Salvatore²,Moglia Cristina¹²,Calvo Andrea¹²⁴,Chiò Adriano¹²⁴⁵^ORCID

Affiliation:

1. “Rita Levi Montalcini” Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy

2. Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Neurology Unit 1, Turin, Italy

3. Department of Clinical Pathology, Laboratory of Genetics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Turin, Italy

4. Neuroscience Institute of Turin (NIT), Turin, Italy, and

5. Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy

Publisher

Informa UK Limited

Subject

Neurology (clinical),Neurology

Link

https://www.tandfonline.com/doi/pdf/10.1080/21678421.2021.1909065

Reference28 articles.

1. Amyotrophic lateral sclerosis

2. State of play in amyotrophic lateral sclerosis genetics

3. Cytoplasmic functions of TDP-43 and FUS and their role in ALS

4. Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

5. Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants

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