E-LIB Suche - Ergebnisse für: Ohlenbusch, Andreas

1

A novel remitting leukodystrophy associated with a variant ..:

Gizak, Agnieszka ; Diegmann, Susann ; Dreha-Kulaczewski, Steffi...
Brain Communications. 3 (2021) 2 - p. , 2021

2

Sulthiame impairs mitochondrial function in vitro and may t..:

Reinert, Marie-Christine ; Pacheu-Grau, David ; Catarino, Claudia B....
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

3

Evidence of pathogenicity for the leaky splice variant c.10..:

Schröder, Simone ; Wieland, Britta ; Ohlenbusch, Andreas...
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2971-2975 , 2020

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

4

Comparative analysis of alternating hemiplegia of childhood..:

Lazarov, Elinor ; Hillebrand, Merle ; Schröder, Simone...
Neurobiology of Disease. 143 (2020) - p. 105012 , 2020

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

5

Severe neonatal multiple sulfatase deficiency presenting wi..:

Schlotawa, Lars ; Dierks, Thomas ; Christoph, Sophie...
JIMD Reports. 49 (2019) 1 - p. 48-52 , 2019

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

6

"Vanishing white matter disease" im Erwachsenenalter:

Buggle, Florian ; Ciric, Elizabeta ; Boujan, Timan...
Der Nervenarzt. 90 (2019) 8 - p. 840-842 , 2019

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

7

Expanding the genetic cause of multiple sulfatase deficienc..:

Jaszczuk, Ilona ; Schlotawa, Lars ; Dierks, Thomas...
Molecular Genetics and Metabolism. 121 (2017) 3 - p. 252-258 , 2017

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

8

Splice variants of the endonucleases XPF and XPG contain re..:

Lehmann, Janin ; Schubert, Steffen ; Seebode, Christina...
Oncotarget. 9 (2017) 1 - p. 1012-1027 , 2017

Link: https://doi.org/10.18632..

9

A unique chromosomal in‐frame deletion identified among sev..:

Schubert, Steffen ; Rieper, Petra ; Ohlenbusch, Andreas...
Photodermatology, Photoimmunology & Photomedicine. 32 (2016) 5-6 - p. 276-283 , 2016

Link: https://doi.org/10.1111/..

10

A novel ATP1A3 mutation with unique clinical presentation:

Rosewich, Hendrik ; Baethmann, Martina ; Ohlenbusch, Andreas..
Journal of the Neurological Sciences. 341 (2014) 1-2 - p. 133-135 , 2014

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

11

Phenotypic overlap of alternating hemiplegia of childhood a..:

Rosewich, Hendrik ; Weise, Dagmar ; Ohlenbusch, Andreas..
Neurology. 83 (2014) 9 - p. 861-863 , 2014

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

12

The expanding clinical and genetic spectrum of ATP1A3-relat..:

Rosewich, Hendrik ; Ohlenbusch, Andreas ; Huppke, Peter...
Neurology. 82 (2014) 11 - p. 945-955 , 2014

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

13

Alternating hemiplegia of childhood and rapid-onset dystoni..:

Rosewich, Hendrik ; Thiele, Holger ; Ohlenbusch, Andreas...
Molecular and Cellular Pediatrics. 1 (2014) Suppl 1 - p. A15 , 2014

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

14

Functional and molecular genetic analyses of nine newly ide..:

Schäfer, Annika ; Gratchev, Alexei ; Seebode, Christina...
Experimental Dermatology. 22 (2013) 7 - p. 486-489 , 2013

Link: https://doi.org/10.1111/..

15

Acute onset of adult Alexander disease:

Schmidt, Holger ; Kretzschmar, Benedikt ; Lingor, Paul...
Journal of the Neurological Sciences. 331 (2013) 1-2 - p. 152-154 , 2013

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