Author

Paras A Patel

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Neuroscience· 1

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Alicia Kerr· 1 shared Ingrid Cristian· 1 shared Julia V Hegert· 1 shared Konark MukherjeeiD· 1 shared Leslie E. W. LaConteiD· 1 shared Michael A. FoxiD· 1 shared Sarika SrivastavaiD· 1 shared

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2021-2021 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperNeuroscience

Alicia Kerr

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1 paper

Recent·Most cited

Complete loss of CASK causes severe ataxia through cerebellar degeneration in human and mouse

Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E. W. LaConte, Michael A. Fox, Sarika Srivastava, Konark Mukherjee

This study shows that complete loss of CASK causes cerebellar degeneration in humans and mice, leading to severe ataxia and encephalopathy, while heterozygous loss results in less severe, non-progressive pathology due to X-chromosome inactivation.

bioRxiv · Mar 22, 2021 · PreprintNeuroscience