Michael Zech
0000-0001-8112-9153
6 papers found
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Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
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