Focal neuromyotonia associated with a C9ORF72 expansion mutation

2020 ◽  
Vol 62 (4) ◽  
Author(s):  
Francesco Fortunato ◽  
Giuseppe Bonapace ◽  
Rosa Gullace ◽  
Monica Gagliardi ◽  
Rita Nisticò ◽  
...  
Keyword(s):  
C9orf72 Expansion ◽  
Expansion Mutation

scholarly journals Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

2018 ◽  
Vol 77 (8) ◽  
pp. 703-709 ◽  
Author(s):  
Oscar Ramos-Campoy ◽  
Rainiero Ávila-Polo ◽  
Oriol Grau-Rivera ◽  
Anna Antonell ◽  
Jordi Clarimón ◽  
...  
Keyword(s):  
Cerebellar Cortex ◽  
Systematic Screening ◽  
C9orf72 Expansion ◽  
Expansion Mutation

scholarly journals Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies

2019 ◽  
Vol 132 (5) ◽  
pp. jcs224303 ◽  
Author(s):  
Ana Bajc Česnik ◽  
Simona Darovic ◽  
Sonja Prpar Mihevc ◽  
Maja Štalekar ◽  
Mirjana Malnar ◽  
...  
Keyword(s):  
C9orf72 Expansion ◽  
Rna Foci ◽  
Nuclear Rna ◽  
Expansion Mutation

[P1-241]: SCREENING FOR C9ORF72 EXPANSION MUTATION IN SERBIAN PATIENTS WITH EARLY ONSET DEMENTIA

2017 ◽  
Vol 13 (7S_Part_7) ◽  
pp. P337-P337
Author(s):  
Gorana Mandic Stojmenovic ◽  
Elka Stefanova ◽  
Valerija Dobricic ◽  
Ivana Novakovic ◽  
Tanja Stojkovic ◽  
...  
Keyword(s):  
Early Onset ◽  
Early Onset Dementia ◽  
C9orf72 Expansion ◽  
Expansion Mutation

scholarly journals The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

2012 ◽  
Vol 21 (1) ◽  
pp. 102-108 ◽  
Author(s):  
Bradley N Smith ◽  
Stephen Newhouse ◽  
Aleksey Shatunov ◽  
Caroline Vance ◽  
Simon Topp ◽  
...  
Keyword(s):  
Common Cause ◽  
C9orf72 Expansion ◽  
Expansion Mutation

No common founder for C9orf72 expansion mutation in Sweden

2016 ◽  
Vol 62 (2) ◽  
pp. 321-324 ◽  
Author(s):  
Huei-Hsin Chiang ◽  
Charlotte Forsell ◽  
Anna-Karin Lindström ◽  
Lena Lilius ◽  
Håkan Thonberg ◽  
...  
Keyword(s):  
C9orf72 Expansion ◽  
Common Founder ◽  
Expansion Mutation

scholarly journals Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD

Biomedicines ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 601
Author(s):  
Keith Mayl ◽  
Christopher E. Shaw ◽  
Youn-Bok Lee
Keyword(s):  
The Body ◽  
The Novel ◽  
Therapeutic Approaches ◽  
Gain Of Function ◽  
Pathogenic Mechanisms ◽  
Hexanucleotide Repeat ◽  
Primary Driver ◽  
Hexanucleotide Repeat Expansion ◽  
Expansion Mutation ◽  
Lateral Sclerosis

A hexanucleotide repeat expansion mutation in the first intron of C9orf72 is the most common known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Since the discovery in 2011, numerous pathogenic mechanisms, including both loss and gain of function, have been proposed. The body of work overall suggests that toxic gain of function arising from bidirectionally transcribed repeat RNA is likely to be the primary driver of disease. In this review, we outline the key pathogenic mechanisms that have been proposed to date and discuss some of the novel therapeutic approaches currently in development.

C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome

2014 ◽  
Vol 261 (10) ◽  
pp. 1917-1921 ◽  
Author(s):  
Vladimir S. Kostić ◽  
Valerija Dobričić ◽  
Iva Stanković ◽  
Vesna Ralić ◽  
Elka Stefanova
Keyword(s):  
Huntington Disease ◽  
C9orf72 Expansion
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