Literature DB >> 8634720

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.

F Quan1, J Janas, B W Popovich.   

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Year:  1995        PMID： 8634720     DOI： 10.1093/hmg/4.12.2411

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  28 in total

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Review 3.  Critical evaluation of in silico methods for prediction of coiled-coil domains in proteins.

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4.  Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.

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Review 5.  The inherited ataxias and the new genetics.

Authors:  S R Hammans
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6.  Cerebellar contribution to the cognitive alterations in SCA1: evidence from mouse models.

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Journal:  Hum Mol Genet       Date:  2020-01-01       Impact factor: 6.150

7.  The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1).

Authors:  Z Matsuyama; Y Izumi; M Kameyama; H Kawakami; S Nakamura
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

8.  Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1.

Authors:  Chandrakanth Reddy Edamakanti; Jeehaeh Do; Alessandro Didonna; Marco Martina; Puneet Opal
Journal:  J Clin Invest       Date:  2018-04-23       Impact factor: 14.808

9.  Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.

Authors:  Karen N McFarland; Jilin Liu; Ivette Landrian; Desmond Zeng; Salmo Raskin; Mariana Moscovich; Emilia M Gatto; Adriana Ochoa; Hélio A G Teive; Astrid Rasmussen; Tetsuo Ashizawa
Journal:  Neurogenetics       Date:  2013-12-07       Impact factor: 2.660

10.  Self-assembling vascular endothelial growth factor nanoparticles improve function in spinocerebellar ataxia type 1.

Authors:  Yuan-Shih Hu; Jeehaeh Do; Chandrakanth Reddy Edamakanti; Ameet R Kini; Marco Martina; Samuel I Stupp; Puneet Opal
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