Disease progression in C9orf72 mutation carriers
نویسندگان
چکیده
منابع مشابه
Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype
Expansion mutations in the C9orf72 gene may cause amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), or mixtures of the two clinical phenotypes. Different imaging findings have been described for C9orf72-associated diseases in comparison with sporadic patients with the same phenotypes, but it is uncertain whether different phenotypes have a common genotype-associated imaging si...
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Please cite this article as: Karteek Popuri, Emma Dowds, Mirza Faisal Beg, Rakesh Balachandar, Mahadev Bhalla, Claudia Jacova, Adrienne Buller, Penny Slack, Pheth Sengdy, Rosa Rademakers, Dana Wittenberg, Howard H. Feldman, Ian R. Mackenzie, Ging-Yuek R. Hsiung , Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers. The address for the corresponding author was captured as affil...
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Membrane/ protein trafficking in the secretory/ biosynthetic and endocytic pathways is mediated by vesicles. Vesicle trafficking in eukaryotes is regulated by a class of small monomeric GTPases the Rab protein family. Rab proteins represent the largest branch of the Ras superfamily GTPases, and have been concerned in a variety of intracellular vesicle trafficking and different intracellular sig...
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We identified in a cohort of patients with frontotemporal dementia (n = 481) or amyotrophic lateral sclerosis (n = 147), 10 index patients carrying a TBK1 loss of function mutation reducing TBK1 expression by 50%. Here, we describe the clinical and pathological characteristics of the 10 index patients and six of their affected relatives carrying a TBK1 mutation. Six TBK1 carriers were diagnosed...
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ژورنال
عنوان ژورنال: Neurology
سال: 2017
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000004115