Author

Reet Rein

Great Ormond Street Hospital

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Genetics· 1

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

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Alan Michael PittmaniD· 1 shared Apostolos PapandreouiD· 1 shared Arianna TucciiD· 1 shared Audrey Ker Shin SooiD· 1 shared Bettina BalintiD· 1 shared Burcu AtasuiD· 1 shared Christian RosenmundiD· 1 shared Christopher PatzkeiD· 1 shared

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1 shared paperGenetics

Alan Michael PittmanORCID

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1 paper

Recent·Most cited

GeneticsJournal of Clinical InvestigationPeer-reviewedFeb 4, 2021

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

Niccolò Emanuele Mencacci, Marisa M. Brockmann, Jinye Dai…·Claudio Acuna

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

37 citations

humanmouse

𝕏 PostBluesky