FAQ

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

Related topics

Related topics

8 relations

Narrower (1)

Corneal dystrophy, epithelial basement membrane
In BloodMicrobiologicalOculomotor apraxiachemically induced
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Oculovestibuloauditory syndrome
radiotherapeutic
prevention & control
Microbiological
nursing therapy
chemically induced

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
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
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage
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
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
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
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
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
The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.
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
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
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
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
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 gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
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
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
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
Clinical features and revised diagnostic criteria in Joubert syndrome.
The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and… (More)
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