AICARDI-GOUTIERES SYNDROME 1

Known as: Aicardi Goutieres syndrome, AGS1, Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 
 

Topic mentions per year

Topic mentions per year

1963-2017
010020019632017

Papers overview

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Highly Cited
2012
Highly Cited
2012
Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in double-stranded RNA… (More)
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Highly Cited
2011
Highly Cited
2011
Myeloid blood cells are largely resistant to infection with human immunodeficiency virus type 1 (HIV-1). Recently, it was… (More)
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Highly Cited
2010
Highly Cited
2010
OBJECTIVE Aicardi-Goutières syndrome (AGS) is an early-onset encephalopathy resembling congenital viral infection that is… (More)
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Highly Cited
2009
Highly Cited
2009
Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus… (More)
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Highly Cited
2007
Highly Cited
2007
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral… (More)
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Highly Cited
2006
Highly Cited
2006
Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of… (More)
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Highly Cited
2006
Highly Cited
2006
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of… (More)
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Highly Cited
2006
Highly Cited
2006
Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 (JAG1), which are found… (More)
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Highly Cited
2005
Highly Cited
2005
Fragile X Syndrome is the most common form of inherited mental retardation worldwide. A Fragile X mouse model, fmr1(tm1Cgr), with… (More)
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Highly Cited
1997
Highly Cited
1997
Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by intrahepatic cholestasis and abnormalities of heart… (More)
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