Factors predicting disease progression in C9ORF72 ALS patients-Reference-Cited by-同舟云学术

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Factors predicting disease progression in C9ORF72 ALS patients

Published:2022-10-25 Issue:2 Volume:270 Page:877-890
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Mandrioli Jessica^ORCID,Zucchi Elisabetta,Martinelli Ilaria,Van der Most Laura,Gianferrari Giulia,Moglia Cristina,Manera Umberto,Solero Luca,Vasta Rosario,Canosa Antonio,Grassano Maurizio,Brunetti Maura,Mazzini Letizia,De Marchi Fabiola,Simonini Cecilia,Fini Nicola,Tupler Rossella,Vinceti Marco,Chiò Adriano,Calvo Andrea

Funder

Regione Emilia-Romagna

Ministero della Salute

Seventh Framework Programme

Ministero dell’Istruzione, dell’Università e della Ricerca

EU Joint Programme – Neurodegenerative Disease Research

Horizon 2020

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-022-11426-y.pdf

Reference52 articles.

1. Trojsi F, D’Alvano G, Bonavita S, Tedeschi G (2020) Genetics and sex in the pathogenesis of amyotrophic lateral sclerosis (ALS): is there a link? Int J Mol Sci 21:3647. https://doi.org/10.3390/ijms21103647

2. Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339:1335–1338. https://doi.org/10.1126/science.1232927

3. Balendra R, Isaacs AM (2018) C9orf72-mediated ALS and FTD: multiple pathways to disease. Nat Rev Neurol 14:544–558. https://doi.org/10.1038/s41582-018-0047-2

4. Burberry A, Suzuki N, Wang JY, Moccia R, Mordes DA, Stewart MH, Suzuki-Uematsu S, Ghosh S, Singh A, Merkle FT, Koszka K, Li QZ, Zon L, Rossi DJ, Trowbridge JJ, Notarangelo LD, Eggan K (2016) Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease. Sci Transl Med 8:347ra93. https://doi.org/10.1126/scitranslmed.aaf6038

5. O’Rourke JG, Bogdanik L, Yáñez A, Lall D, Wolf AJ, Muhammad AK, Ho R, Carmona S, Vit JP, Zarrow J, Kim KJ, Bell S, Harms MB, Miller TM, Dangler CA, Underhill DM, Goodridge HS, Lutz CM, Baloh RH (2016) C9orf72 is required for proper macrophage and microglial function in mice. Science 351:1324–1329. https://doi.org/10.1126/science.aaf1064

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