Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement

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dc.contributor.authorKilic, Mehmet Akif
dc.contributor.authorKipoglu, Osman
dc.contributor.authorCoskun, Orhan
dc.contributor.authorKaracabey, Burcin Nazli
dc.contributor.authorYesilyurt, Ahmet
dc.contributor.authorYildiz, Edibe Pembegul
dc.contributor.authorAydinli, Nur
dc.contributor.authorCaliskan, Meliha Mine
dc.date.accessioned2025-10-16T15:18:29Z
dc.date.issued2021
dc.identifier.doi10.1016/j.braindev.2021.06.001
dc.identifier.otherWOS:000714604900009
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/7154
dc.publisherELSEVIER
dc.sourceBRAIN \& DEVELOPMENT
dc.subjectAtaxia
dc.subjectSQSTM1
dc.subjectP62
dc.subjectMyoclonus
dc.subjectBrainstem
dc.subjectEye movement abnormalities
dc.titleHomozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement
dc.typeArticle

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