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List of works by Rasim Ozgur Rosti

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

scientific article

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

scientific article

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

Primary cilia in neurodevelopmental disorders

scientific article published on 03 December 2013

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