PuSH - Publikationsserver des Helmholtz Zentrums München

Zeitschriften-Browsing

70 Datensätze gefunden.
Zum Exportieren der Ergebnisse bitte einloggen.
Alle Publikationen dieser Seite in den Korb legen
21.
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)
22.
Krenn, M.* ; Sommer, R.* ; Sycha, T.* & Zech, M.: GNAO1 haploinsufficiency associated with a mild delayed-onset dystonia phenotype. Mov. Disord. 37, 2464-2466 (2022)
23.
Neilson, D.E.* et al.: A novel variant of ATP5MC3 associated with both dystonia and spastic paraplegia. Mov. Disord. 37, 375-383 (2022)
24.
Škorvánek, M.* et al.: Adult-onset neurodegeneration in nucleotide excision repair disorders: More common than expected. Mov. Disord. 37, 2323-2324 (2022)
25.
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)
26.
Straka, I.* ; Švantnerová, J.* & Zech, M.: Reply to letter: Neurodevelopmental gene-related dystonia: A pediatric case with NAA15 variant. Mov. Disord. 37:2322 (2022)
27.
Janzen, A.* et al.: Rapid eye movement sleep behavior disorder: Abnormal cardiac image and progressive abnormal metabolic brain pattern. Mov. Disord., DOI: 10.1002/mds.28859 (2021)
28.
Kogan, R.V.* et al.: Four‐year follow‐up of [18F]fluorodeoxyglucose positron emission tomography–based Parkinson disease–related pattern expression in 20 patients with isolated rapid eye movement sleep behavior disorder shows prodromal progression. Mov. Disord. 36, 230-235 (2021)
29.
Maass, F.* et al.: Cerebrospinal fluid iron-ferritin ratio as a potential progression marker for parkinson's disease. Mov. Disord. 36, 2967-2969 (2021)
30.
Ostrozovičová, M.* et al.: A recurrent VPS16 p.Arg187* nonsense variant in early-onset generalized dystonia. Mov. Disord. 36, 1984-1985 (2021)
31.
Salminen, A.V. et al.: Consensus guidelines on rodent models of restless legs syndrome. Mov. Disord. 36, 558-569 (2021)
32.
Shadrin, A.A.* et al.: Shared genetics of multiple system atrophy and inflammatory bowel disease. Mov. Disord. 36, 449-459 (2021)
33.
Winter, B.* et al.: NR4A2 and dystonia with dopa responsiveness. Mov. Disord. 36, 2203-2204 (2021)
34.
Zech, M. et al.: Scoring algorithm-based genomic testing in dystonia: A prospective validation study. Mov. Disord. 36, 959-1964 (2021)
35.
Zech, M. et al.: A neurodevelopmental disorder with dystonia and chorea resulting from clustering CAMK4 variants. Mov. Disord. 36, 520-521 (2021)
36.
Zech, M. et al.: Biallelic AOPEP loss-of-function variants cause progressive dystonia with prominent limb involvement. Mov. Disord., DOI: 10.1002/mds.28804 (2021)
37.
Hopfner, F.* et al.: Rare variants in specific lysosomal genes are associated with Parkinson's disease. Mov. Disord. 35, 1245-1248 (2020)
38.
Kishore, A.* et al.: Understanding the role of genetic variability in LRRK2 in Indian population. Mov. Disord. 34, 496-505 (2019)
39.
Kübler, D.* et al.: Widespread microglial activation in multiple system atrophy. Mov. Disord. 34, 564-568 (2019)
40.
Salminen, A.V. et al.: Reply to: A note on rotigotine for restless legs syndrome after renal transplantation. Mov. Disord. 34, 152-153 (2019)