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1.
Calakos, N.* & Zech, M.: Emerging molecular-genetic families in dystonia: Endosome-autophagosome-lysosome and integrated stress response pathways. Mov. Disord., DOI: 10.1002/mds.30037 (2024)
2.
Castellotti, B.* et al.: Paroxysmal non-kinesigenic dyskinesias associated with biallelic POLG variants: A case report. Mov. Disord., DOI: 10.1002/mds.30029 (2024)
3.
Indelicato, E. et al.: Genome aggregation database version 4-new challenges of variant analysis in movement disorders. Mov. Disord., DOI: 10.1002/mds.29797 (2024)
4.
Indelicato, E. ; Boesch, S.* & Zech, M.: Heterogeneous phenotypic evolution in ANO3-related dystonia due to the recurrent p.Glu510Lys variant. Mov. Disord. 39, 631-632 (2024)
5.
Indelicato, E. et al.: Genome aggregation database version 4-allele frequency changes and impact on variant interpretation in dystonia. Mov. Disord., DOI: 10.1002/mds.30066 (2024)
6.
Laabs, B.H.* et al.: Genetic risk factors in isolated dystonia escape genome-wide association studies. Mov. Disord., DOI: 10.1002/mds.29968 (2024)
7.
Prokisch, H. & Zech, M.: Proteomic profiling in dystonia: The next frontier for pathophysiology research and biomarker exploration. Mov. Disord., DOI: 10.1002/mds.29964 (2024)
8.
Svec, M.* ; Mantel, T.* ; Zech, M. & Haslinger, B.*: Reply to: "Clinical and molecular profiling in GNAO1 permits phenotype-genotype correlation". Mov. Disord. 39, 2124-2125 (2024)
9.
Zorzi, G.* et al.: Potassium channel subunit Kir4.1 mutated in paroxysmal kinesigenic dyskinesia: Screening of an Italian cohort. Mov. Disord., DOI: 10.1002/mds.30008 (2024)
10.
Harrer, P. et al.: Epigenetic association analyses and risk prediction of RLS. Mov. Disord. 38, 1410-1418 (2023)
11.
Harrer, P. et al.: Dystonia linked to EIF4A2 haploinsufficiency: A disorder of protein translation dysfunction. Mov. Disord. 38, 1914-1924 (2023)
12.
Indelicato, E.* ; Boesch, S.* & Zech, M.: Reply to: "Early onset nonprogressive generalized dystonia is caused by biallelic SHQ1 variants". Mov. Disord. 38, 1119-1120 (2023)
13.
Indelicato, E. et al.: Dystonia in ATP synthase defects: Reconnecting mitochondria and dopamine. Mov. Disord. 39, 29-35 (2023)
14.
Kuzkina, A.* et al.: Dermal real-time quaking-induced conversion is a sensitive marker to confirm isolated rapid eye movement sleep behavior disorder as an early α-synucleinopathy. Mov. Disord. 38, 1077-1082 (2023)
15.
Sugier, P.E.* et al.: Investigation of shared genetic risk factors between parkinson's disease and cancers. Mov. Disord. 38, 604-615 (2023)
16.
Vollstedt, E.J.* et al.: Embracing monogenic Parkinson's disease: The MJFF global genetic PD cohort. Mov. Disord. 38, 286-303 (2023)
17.
Di Fonzo, A.* & Zech, M.: Nuclear pore complex dysfunction in dystonia pathogenesis: Nucleoporins in the spotlight. Mov. Disord. 38, 23-24 (2022)
18.
Domenighetti, C.* et al.: Dairy intake and Parkinson's disease: A mendelian randomization study. Mov. Disord. 37, 857-864 (2022)
19.
Domenighetti, C.* et al.: The interaction between HLA-DRB1 and smoking in Parkinson's disease revisited. Mov. Disord. 37, 1929-1937 (2022)
20.
Hopfner, F.* et al.: Common variants near ZIC1 and ZIC4 in autopsy-confirmed multiple system atrophy. Mov. Disord. 37, 2110-2121 (2022)
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