Author

Julia V Hegert

Orlando Health

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Neuroscience· 1

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

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Alicia Kerr· 1 shared Ingrid Cristian· 1 shared Konark MukherjeeiD· 1 shared Leslie E. W. LaConteiD· 1 shared Michael A. FoxiD· 1 shared Paras A Patel· 1 shared Sarika SrivastavaiD· 1 shared

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2021-2021 · peak 1/yr

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1 shared paperNeuroscience

Alicia Kerr

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1 paper

Recent·Most cited

NeurosciencebioRxivPreprintMar 22, 2021

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

Paras A Patel, Julia V Hegert, Ingrid Cristian…·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.

2 citations

humanmouse

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