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Author/Creator Winkelmann, Julianne

1. A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia. Issue 8 (17th May 2021)

Authors:
Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havránková, Petra; Winkelmann, Julianne; Zech, Michael; Skorvanek, Matej
Journal:
Movement disorders
Issue:
Volume 36:Issue 8(2021)
Page Start:
1984
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease. Issue 4 (April 2023)

Authors:
Seyedtaghia, Mohammad Reza; Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Vafadar, Shabnam; Shalaei, Neda; Nouri, Vahid; Zech, Michael; Winkelmann, Julianne; shoeibi, Ali; Sadr-Nabavi, Ariane
Journal:
Heliyon
Issue:
Volume 9:Issue 4(2023)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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