COMMENT The paper demonstrates disease anticipation in a well-characterized sample of Belgian families with C9ORF72-associated FTD/ALS. Such clinical anticipation is commonly seen in diseases caused by expanded repeat mutations, such as myotonic dystrophy and ...
PAPER Kim JM, Hong S, Kim GP, Choi YJ, Kim YK, Park SS, Kim SE, Jeon BS17923635
PAPER Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM
The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease.J Huntingtons Dis. 2015;4(3):279-84. PubMed: 26444025
RESEARCH NEWS 2017-02-17 Research News While each new generation hopes to live better than the last, the reality may be different in families stricken with hexanucleotide repeat expansions in the C9ORF72 gene—the most common genetic cause of amyotrophic lateral sclerosis (ALS) ...
PAPER Stine OC, Pleasant N, Franz ML, Abbott MH, Folstein SE, Ross CA
Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.Hum Mol Genet. 1993 Oct;2(10):1547-9. PubMed: 8268907
PAPER Petronis A, Kennedy JL7840347
PAPER Bang KM, Perlin E, Sampson CC3586035
PAPER Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M8401587
PAPER Van Mossevelde S, van der Zee J, Gijselinck I, Sleegers K, De Bleecker J, Sieben A, Vandenberghe R, Van Langenhove T, Baets J, Deryck O, Santens P, Ivanoiu A, Willems C, Bäumer V, Van den Broeck M, Peeters K, Mattheijssens M, De Jonghe P, Cras P, Martin JJ, Cruts M, De Deyn PP, Engelborghs S, Van Broeckhoven C, Belgian Neurology (BELNEU) Consortium28192553
COMMENT This is an important and valuable addition to the literature on the potential link between chronic, repetitive head injury (with heading in football being used as the model) and the risk of the later development of chronic traumatic encephalopathy. ...
COMMENT This is an important clinicopathological case study involving a small cohort of demented subjects who were exposed to repetitive head impacts (RHI) through soccer participation for a prolonged period of time (average 26 years). The report greatly enhances ...
RESEARCH NEWS 2017-02-17 Research News NFL retirees may not be the only footballers at risk for chronic traumatic encephalopathy. Heading the ball may put players of the world’s most popular sport, soccer, at risk for the neurodegenerative condition as well, according to two ...
PAPER Noy S, Krawitz S, Del Bigio MR27815395
PAPER Lipton ML, Kim N, Zimmerman ME, Kim M, Stewart WF, Branch CA, Lipton RB23757503
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