Michael Zech

Klinikum rechts der Isar — Germany

Medicine · Health Sciences

25h-index2.6kcitations177works3.12yr avg
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Research Topics

Neurological disorders and treatments(52), Genomics and Rare Diseases(49), Genetics and Neurodevelopmental Disorders(48), Genetic Neurodegenerative Diseases(46), Parkinson's Disease Mechanisms and Treatments(22)

Publications176 total

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort
2025Open Access
Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia
Neuropediatrics·2025
<i>De Novo</i> Variants in <scp> <i>PPFIA2</i> </scp> in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A·2025Open Access
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Movement Disorders·2025Open Access
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features
Molecular Neurodegeneration·2025Open Access
A Novel α‐Synuclein <scp>K58N</scp> Missense Variant in a Patient with Parkinson's Disease
Movement Disorders·2025· 1 citedOpen Access
The Attenuated Phenotype of <i>CNTNAP1</i> ‐Related Neuropathy Mimics Spastic–Dystonic Cerebral Palsy
American Journal of Medical Genetics Part A·2025
<scp> <i>AOPEP</i> </scp> ‐Related Dystonia with Supranuclear Vertical Gaze Palsy
Movement Disorders Clinical Practice·2025· 1 cited
Rediscovery of the Tubulin β‐<scp>4A</scp> p.<scp>Arg2Gly</scp> Variant in Whispering Dysphonia: A Report from Austria
Movement Disorders·2025Open Access
Pleiotropic effects of <i>MORC2</i> derive from its epigenetic signature
Brain·2025· 2 citedOpen Access
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase
Movement Disorders·2025· 5 citedOpen Access
Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia
Movement Disorders·2025· 5 citedOpen Access
Review for "Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing"
2025
New Progressive Generalized Dystonia Phenotype in a Patient with <scp><i>NBEA</i></scp>‐Related Neurodevelopmental Disease
Movement Disorders Clinical Practice·2025
Reduced Penetrance in Interferonopathy‐Associated Dystonia: Hope for Clues to Mechanism?
Movement Disorders·2025
<i>AOPEP</i>-related autosomal recessive dystonia: update on Zech-Boesch syndrome
Journal of Medical Genetics·2025· 4 cited
Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders
Current Neurology and Neuroscience Reports·2025· 1 citedOpen Access
Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship
Annals of Neurology·2025· 4 citedOpen Access
Genetic Etiology Influences the Low‐Frequency Components of Globus Pallidus Internus Electrophysiology in Dystonia
European Journal of Neurology·2025· 1 citedOpen Access
Paroxysmal nocturnal dystonia in DNM1L-related syndrome
Parkinsonism & Related Disorders·2025· 1 cited
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Frequent Co-authors

Juliane Winkelmann(23), Robert Jech(20), Matias Wagner(16), Sylvia Boesch(15), Riccardo Berutti(15), Bernhard Haslinger(15), Matěj Škorvánek(12), Petra Havránková(12), Ján Necpál(10), Juliane Winkelmann(10), Angela Jochim(9), Tim M. Strom(9), Theresa Brunet(8), Jana Švantnerová(7), Sandrina Weber(6), Anna Fečíková(6), Vladimír Haň(6), Holger Prokisch(6), Thomas Meitinger(6), Konrad Oexle(6)