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1.
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)
2.
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)
3.
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)
4.
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)
5.
Harrer, P. et al.: Epigenetic association analyses and risk prediction of RLS. Mov. Disord. 38, 1410-1418 (2023)
6.
Harrer, P. et al.: Dystonia linked to EIF4A2 haploinsufficiency: A disorder of protein translation dysfunction. Mov. Disord. 38, 1914-1924 (2023)
7.
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)
8.
Indelicato, E. et al.: Dystonia in ATP synthase defects: Reconnecting mitochondria and dopamine. Mov. Disord. 39, 29-35 (2023)
9.
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)
10.
Sugier, P.E.* et al.: Investigation of shared genetic risk factors between parkinson's disease and cancers. Mov. Disord. 38, 604-615 (2023)
11.
Vollstedt, E.J.* et al.: Embracing monogenic Parkinson's disease: The MJFF global genetic PD cohort. Mov. Disord. 38, 286-303 (2023)
12.
Di Fonzo, A.* & Zech, M.: Nuclear pore complex dysfunction in dystonia pathogenesis: Nucleoporins in the spotlight. Mov. Disord. 38, 23-24 (2022)
13.
Domenighetti, C.* et al.: Dairy intake and Parkinson's disease: A mendelian randomization study. Mov. Disord. 37, 857-864 (2022)
14.
Domenighetti, C.* et al.: The interaction between HLA-DRB1 and smoking in Parkinson's disease revisited. Mov. Disord. 37, 1929-1937 (2022)
15.
Hopfner, F.* et al.: Common variants near ZIC1 and ZIC4 in autopsy-confirmed multiple system atrophy. Mov. Disord. 37, 2110-2121 (2022)
16.
Indelicato, E.* et al.: Confirmation of a causal role for SHQ1 variants in early infantile-onset recessive dystonia. Mov. Disord., DOI: 10.1002/mds.29281 (2022)
17.
Krenn, M.* ; Sommer, R.* ; Sycha, T.* & Zech, M.: GNAO1 haploinsufficiency associated with a mild delayed-onset dystonia phenotype. Mov. Disord. 37, 2464-2466 (2022)
18.
Neilson, D.E.* et al.: A novel variant of ATP5MC3 associated with both dystonia and spastic paraplegia. Mov. Disord. 37, 375-383 (2022)
19.
Škorvánek, M.* et al.: Adult-onset neurodegeneration in nucleotide excision repair disorders: More common than expected. Mov. Disord. 37, 2323-2324 (2022)
20.
Straka, I.* ; Švantnerová, J.* ; Minár, M.* ; Stanková, S.* & Zech, M.: Neurodevelopmental gene-related dystonia-parkinsonism with onset in adults: A case with NAA15 variant. Mov. Disord. 37, 1955-1957 (2022)