Dysautonomia, Familial

Known as: Hereditary Sensory and Autonomic Neuropathy Type III, HSAN III, riley days syndrome 
An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
BACKGROUND Functional dyspepsia (FD or non-ulcer dyspepsia) is defined as continuous or frequently recurring epigastric pain or… (More)
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Review
2017
Review
2017
Weight gain, obesity and diabetes have reached alarming levels in the developed world. Traditional risk factors such as over… (More)
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Highly Cited
2013
Highly Cited
2013
Complex gene-environment interactions are considered important in the development of obesity. The composition of the gut… (More)
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Highly Cited
2009
Highly Cited
2009
The isolation of human induced pluripotent stem cells (iPSCs) offers a new strategy for modelling human disease. Recent studies… (More)
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Highly Cited
2006
Highly Cited
2006
Mutations in IKBKAP, encoding a subunit of Elongator, cause familial dysautonomia (FD), a severe neurodevelopmental disease with… (More)
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Highly Cited
2001
Highly Cited
2001
Familial dysautonomia (FD; also known as "Riley-Day syndrome"), an Ashkenazi Jewish disorder, is the best known and most frequent… (More)
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Highly Cited
2001
Highly Cited
2001
The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome… (More)
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Highly Cited
2001
Highly Cited
2001
The reliability of current and lifetime Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American… (More)
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Highly Cited
1995
Highly Cited
1995
1. We recently showed that patients lacking proprioceptive input from their limbs have particular difficulty performing… (More)
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Highly Cited
1995
Highly Cited
1995
WHAT is the role of the cerebellum in motor coordination? Such coordination depends upon the integrity of the inferior olive, a… (More)
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