E-LIB Suche - Ergebnisse für: Soehn, Anne S.

1

Hypomorphic mutations in POLR3A are a frequent cause ofspor..:

Minnerop, Martina ; Kurzwelly, Delia ; Wagner, Holger...
Brain. 140 (2017) 6 - p. 1561-1578 , 2017

Link: https://doi.org/10.1093/..

2

Uniparental disomy of chromosome 16 unmasks recessive mutat..:

Soehn, Anne S. ; Rattay, Tim W. ; Beck-Wödl, Stefanie...
Neurology. 87 (2016) 2 - p. 186-191 , 2016

Link: https://doi.org/10.1212/..

3

Autosomal recessive spastic ataxia of Charlevoix Saguenay (..:

Synofzik, Matthis ; Soehn, Anne S ; Gburek-Augustat, Janina...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. 41 , 2013

Link: https://doi.org/10.1186/..

4

The Guanine Nucleotide Exchange Factor Kalirin-7 Is a Novel..:

Tsai, Yu-Chun ; Riess, Olaf ; Soehn, Anne S...
PLoS ONE. 7 (2012) 12 - p. e51999 , 2012

Link: https://doi.org/10.1371/..

5

Genetic analysis of polymorphisms in the kalirin gene for a..:

Tsai, Yu-Chun ; Metzger, Silke ; Riess, Olaf..
BMC Medical Genetics. 13 (2012) 1 - p. , 2012

Link: https://doi.org/10.1186/..

6

Genetic analysis of coding SNPs in blood-brain barrier tran..:

Funke, Claudia ; Soehn, Anne S. ; Tomiuk, Juergen..
Journal of Neural Transmission. 116 (2009) 4 - p. 443-450 , 2009

Link: https://doi.org/10.1007/..

7

Periphilin is a novel interactor of synphilin-1, a protein ..:

Soehn, Anne S. ; Franck, Thomas ; Biskup, Saskia...
neurogenetics. 11 (2009) 2 - p. 203-215 , 2009

Link: https://doi.org/10.1007/..

8

Genetic analysis of heme oxygenase-1 (HO-1) in German Parki..:

Funke, Claudia ; Tomiuk, Juergen ; Riess, Olaf..
Journal of Neural Transmission. 116 (2009) 7 - p. 853-859 , 2009

Link: https://doi.org/10.1007/..

9

Periphilin is strongly expressed in the murine nervous syst..:

Soehn, Anne S. ; Pham, Thu-Trang ; Schaeferhoff, Karin...
genesis. 47 (2009) 10 - p. 697-707 , 2009

Link: https://doi.org/10.1002/..

10

The proteasomal subunit S6 ATPase is a novel synphilin‐1 in..:

Marx, Frank P. ; Soehn, Anne S. ; Berg, Daniela...
The FASEB Journal. 21 (2007) 8 - p. 1759-1767 , 2007

Link: https://doi.org/10.1096/..

11

Development and adult morphology of the eye lens in the zeb..:

Dahm, Ralf ; Schonthaler, Helia B. ; Soehn, Anne S...
Experimental Eye Research. 85 (2007) 1 - p. 74-89 , 2007

Link: https://doi.org/10.1016/..

12

Defining diagnostic cutoffs in neurological patients for se..:

Rattay, Tim W ; Rautenberg, Maren ; Soehn, Anne S...
Scientific Reports, volume 10, issue: 1. , 2020

Link: https://hdl.handle.net/1..

13

Hypomorphic mutations in POLR3A are a frequent cause of spo..:

Minnerop, Martina ; Kurzwelly, Delia ; Wagner, Holger...
https://aperta.ulakbim.gov.tr/record/45131. , 2017

Link: https://aperta.ulakbim.g..

14

Uniparental disomy of chromosome 16 unmasks recessive mutat..:

Soehn, Anne S ; Rattay, Tim W ; Beck-Wödl, Stefanie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940069/. , 2016

Link: http://www.ncbi.nlm.nih...

15

Uniparental disomy of chromosome 16 unmasks recessive mutat..:

Soehn, Anne S ; Rattay, Tim W ; Beck-Wödl, Stefanie...
Reproducció del document publicat a: https://doi.org/10.1212/WNL.0000000000002843. , 2016

Link: http://hdl.handle.net/24..