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1.
Al-Azzani, M.* et al.: A novel α-synuclein K58N missense variant in a patient with Parkinson's disease. Mov. Disord., DOI: 10.1002/mds.70030 (2025)
2.
Harrer, P. et al.: Expanding the allelic and clinical heterogeneity of movement disorders linked to defects of mitochondrial adenosine triphosphate synthase. Mov. Disord. 40, 1388-1400 (2025)
3.
Heger, L.M.* et al.: Patient-derived neurons exhibit α-synuclein pathology and previously unrecognized major histocompatibility complex class I elevation in mitochondrial membrane protein-associated neurodegeneration. Mov. Disord., DOI: 10.1002/mds.70029 (2025)
4.
Keritam, O.* et al.: Rediscovery of the tubulin β-4A p.Arg2Gly variant in whispering dysphonia: A report from Austria. Mov. Disord. 40, 1725-1726 (2025)
5.
Krenn, M.* & Zech, M.: Reduced penetrance in interferonopathy-Aasociated dystonia: Hope for clues to mechanism? Mov. Disord., DOI: 10.1002/mds.30205 (2025)
6.
Sorrentino, U. et al.: Integrating long-read nanopore sequencing for precision resolution of genomic variants in dystonia. Mov. Disord., DOI: 10.1002/mds.70072 (2025)
7.
Travaglini, L.* et al.: Biallelic variants in SLC27A3 cause a complex form of neurodegeneration with brain iron accumulation. Mov. Disord., DOI: 10.1002/mds.70079 (2025)
8.
Wirth, T.* ; Kumar, K.R.* & Zech, M.: Long-read sequencing: The third generation of diagnostic testing for dystonia. Mov. Disord. 40, 1009-1019 (2025)
9.
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)
10.
Castellotti, B.* et al.: Paroxysmal non-kinesigenic dyskinesias associated with biallelic POLG variants: A case report. Mov. Disord., DOI: 10.1002/mds.30029 (2024)
11.
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)
12.
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)
13.
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)
14.
Laabs, B.H.* et al.: Genetic risk factors in isolated dystonia escape genome-wide association studies. Mov. Disord. 39, 2110-2116 (2024)
15.
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)
16.
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)
17.
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)
18.
Harrer, P. et al.: Epigenetic association analyses and risk prediction of RLS. Mov. Disord. 38, 1410-1418 (2023)
19.
Harrer, P. et al.: Dystonia linked to EIF4A2 haploinsufficiency: A disorder of protein translation dysfunction. Mov. Disord. 38, 1914-1924 (2023)
20.
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)
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