Meyenburg-Altherr-Uehlinger syndrome

Known as: Jaksch' syndrome, Ashkenazi syndrome, Von Jaksch Wartenhorst's syndrome 
 
National Institutes of Health

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Highly Cited
2008
Highly Cited
2008
BACKGROUND Mutations in GBA and LRRK2 genes have been implicated in Parkinson disease (PD), particularly in Ashkenazi Jews… (More)
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Highly Cited
2006
Highly Cited
2006
 
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Highly Cited
2003
Highly Cited
2003
BACKGROUND & AIMS The NOD2 variants R702W, G908R, and L1007fsinsC are strongly associated with Crohn's disease (CD) in both… (More)
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Highly Cited
2001
Highly Cited
2001
A deletion of at least 140 kb starting approximately 35kb upstream (telomeric) to the GJB2 (CX26) gene was identified in 7… (More)
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Highly Cited
2000
Highly Cited
2000
Mucolipidosis type IV (MLIV) is an autosomal recessive, neurodegenerative, lysosomal storage disorder characterized by… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Mutations in the GJB2 gene cause one form of nonsyndromic recessive deafness. Among Mediterranean Europeans, more than… (More)
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Highly Cited
1998
Highly Cited
1998
Familial Mediterranean Fever is one of the most frequent recessive disease in non-Ashkenazi Jews. The gene responsible for the… (More)
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Highly Cited
1997
Highly Cited
1997
BACKGROUND Carriers of germ-line mutations in BRCA1 and BRCA2 from families at high risk for cancer have been estimated to have… (More)
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Highly Cited
1991
Highly Cited
1991
BACKGROUND AND METHODS Severe factor XI deficiency, which is relatively common among Ashkenazi Jews, is associated with injury… (More)
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Highly Cited
1985
Highly Cited
1985
Nonclassical steroid 21-hydroxylase deficiency is an autosomal recessive disorder that is defined by clinical and hormonal… (More)
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