Oculovestibuloauditory syndrome

Known as: Syndrome, Cogan, oculomotor apraxia, Cogans Syndrome 
A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium… (More)

Topic mentions per year

Topic mentions per year

1953-2018
0204019532017

Papers overview

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Highly Cited
2007
Highly Cited
2007
The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of… (More)
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Highly Cited
2007
Highly Cited
2007
A defective response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including… (More)
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Highly Cited
2004
Highly Cited
2004
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative… (More)
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Highly Cited
2004
Highly Cited
2004
Joubert syndrome (JS) is an autosomal recessive disorder marked by agenesis of the cerebellar vermis, ataxia, hypotonia… (More)
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Highly Cited
2004
Highly Cited
2004
Ataxia-oculomotor apraxia 1 (AOA1) is an autosomal recessive neurodegenerative disease that is reminiscent of ataxia… (More)
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Highly Cited
2003
Highly Cited
2003
Nephronophthisis (NPHP), a group of autosomal recessive cystic kidney disorders, is the most common genetic cause of progressive… (More)
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Highly Cited
2003
Highly Cited
2003
Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor… (More)
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Highly Cited
2001
Highly Cited
2001
The newly recognized ataxia–ocular apraxia 1 (AOA1; MIM 208920) is the most frequent cause of autosomal recessive ataxia in Japan… (More)
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Highly Cited
2001
Highly Cited
2001
Friedreich ataxia (FRDA), the most common autosomal recessive neurodegenerative disease among Europeans and people of European… (More)
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Highly Cited
1999
Highly Cited
1999
The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and… (More)
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