Brain

Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism

Jelena Pozojevic , Björn-Hergen von Holt und Ana Westenberger EMAIL logo
Aus der Zeitschrift Medizinische Genetik
https://doi.org/10.1515/medgen-2022-2135

Molecular mechanisms defining penetrance of LRRK2-associated Parkinson’s disease

Joanne Trinh , Emma L. Schymanski , Semra Smajic , Meike Kasten , Esther Sammler und Anne Grünewald EMAIL logo
Aus der Zeitschrift Medizinische Genetik
https://doi.org/10.1515/medgen-2022-2127

Patient-derived cells – an irreplaceable tool for research of reduced penetrance in movement disorders

Philip Seibler EMAIL logo und Aleksandar Rakovic
Aus der Zeitschrift Medizinische Genetik
https://doi.org/10.1515/medgen-2022-2133

Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example

Sokhna Haissatou Diaw , Fabian Ott , Alexander Münchau , Katja Lohmann EMAIL logo und Hauke Busch
Aus der Zeitschrift Medizinische Genetik
https://doi.org/10.1515/medgen-2022-2126

Systematic review of Mendelian randomization studies on Parkinson’s disease

Sophia Kappen, Daniele Bottigliengo, Amke Caliebe, Fabiola Del Greco M., Inke R. König
J Mol Biol. 2023 Feb 9
https://pubmed.ncbi.nlm.nih.gov/36646669/

Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review

K Tschigg, L Consoli, R Biasiotto, D Mascalzoni
Eur J Hum Genet. 2022 Jun 15. doi: 10.1038/s41431-022-01120-y. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/35705790/

A Mendelian randomization study investigating the causal role of inflammation on Parkinson’s disease

Daniele Bottigliengo, Luisa Foco, Philip Seibler, Christine Klein, Inke R König, Fabiola Del Greco M
Brain. 2022 Jun 3;awac193. doi: 10.1093/brain/awac193. Online ahead of print.
https://pubmed.ncbi.nlm.nih.gov/35656776/

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

Lara M Lange, Paulina Gonzalez-Latapi, Rajasumi Rajalingam, Marina A J Tijssen, Darius Ebrahimi-Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore R Kumar, Anthony E Lang, Malco Rossi, Sterre van der Veen, Bart van de Warrenburg, Tom Warner, Katja Lohmann, Christine Klein, Connie Marras, on behalf of the Task Force on Genetic Nomenclature in Movement Disorders
Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.
https://pubmed.ncbi.nlm.nih.gov/35481685/

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