Cone-rod dystrophy 7

Common Name(s)

Cone-rod dystrophy 7

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cone-rod dystrophy 7" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cone-rod dystrophy 7" returned 2 free, full-text research articles on human participants. First 3 results:

[SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia].
 

Author(s): F Arnalich-Montiel, G Rebolleda, F J Muñoz-Negrete

Journal: Arch Soc Esp Oftalmol. 2005 Nov;80(11):679-82.

 

A 21-year-old male presented with bilateral loss of visual acuity within the last year, and cerebellar ataxia since childhood. Two members of his family had a similar disorder. Examination showed bilateral central scotomas, as well as an electroretinogram pattern and optic coherence ...

Last Updated: 28 Nov 2005

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Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
 

Author(s): A R La Spada, Y H Fu, B L Sopher, R T Libby, X Wang, L Y Li, D D Einum, J Huang, D E Possin, A C Smith, R A Martinez, K L Koszdin, P M Treuting, C B Ware, J B Hurley, L J Ptácek, S Chen

Journal: Neuron. 2001 Sep;31(6):913-27.

 

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder caused by a CAG repeat expansion. To determine the mechanism of neurotoxicity, we produced transgenic mice and observed a cone-rod dystrophy. Nuclear inclusions were present, suggesting that the disease pathway ...

Last Updated: 2 Oct 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cone-rod dystrophy 7" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome; Cone-Rod Dystrophy; Hearing Loss

 

Last Updated: 1 Dec 2014

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