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Timothy syndrome

Known as: LQT8, Long Qt Syndrome 8, LONG QT SYNDROME WITH SYNDACTYLY 
 
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
L-type voltage gated calcium channels have an important role in neuronal development by promoting dendritic growth and… Expand
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Highly Cited
2012
Highly Cited
2011
Highly Cited
2011
Autism and autism spectrum disorder (ASD) typically arise from a mixture of environmental influences and multiple genetic… Expand
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Highly Cited
2011
Highly Cited
2011
Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific… Expand
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Highly Cited
2010
Highly Cited
2010
RATIONALE L-Type (Cav1.2) Ca(2+) channels are critical regulators of muscle and neural function. Although Cav1.2 channel activity… Expand
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Review
2009
Review
2009
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization abnormalities that are characterized by length… Expand
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Highly Cited
2008
Highly Cited
2008
Calcium entry into excitable cells is an important physiological signal, supported by and highly sensitive to the activity of… Expand
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Review
2008
Review
2008
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal… Expand
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Highly Cited
2005
Highly Cited
2005
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features… Expand
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Highly Cited
2004
Highly Cited
2004
Ca(V)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues… Expand
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