E-LIB Suche - Ergebnisse für: Schottmann, Gudrun

1

Brain Iron and Metabolic Abnormalities in C19orf12 Mutation..:

Dusek, Petr ; Mekle, Ralf ; Skowronska, Marta...
Movement Disorders. 35 (2019) 1 - p. 142-150 , 2019

2

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, Birgit M. ; Mastantuono, Elisa ; Alston, Charlotte L....
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

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

3

Recessive mutation in EXOSC3 associates with mitochondrial ..:

Schottmann, Gudrun ; Picker-Minh, Sylvie ; Schwarz, Jana Marie...
Mitochondrion. 37 (2017) - p. 46-54 , 2017

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

4

Kyphoscoliosis peptidase (KY) mutation causes a novel conge..:

Straussberg, Rachel ; Schottmann, Gudrun ; Sadeh, Menachem...
Acta Neuropathologica. 132 (2016) 3 - p. 475-478 , 2016

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

5

A movement disorder with dystonia and ataxia caused by a mu..:

Schottmann, Gudrun ; Sarpong, Akosua ; Lorenz, Carmen...
Movement Disorders. 31 (2016) 11 - p. 1733-1739 , 2016

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

6

MORC2mutation causes severe spinal muscular atrophy-phenoty..:

Schottmann, Gudrun ; Wagner, Christiane ; Seifert, Franziska..
Brain. 139 (2016) 12 - p. e70-e70 , 2016

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

7

Deficiency of ECHS1 causes mitochondrial encephalopathy wit..:

Haack, Tobias B. ; Jackson, Christopher B. ; Murayama, Kei...
Annals of Clinical and Translational Neurology. 2 (2015) 5 - p. 492-509 , 2015

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

8

Recessive truncatingIGHMBP2mutations presenting as axonal s..:

Schottmann, Gudrun ; Jungbluth, Heinz ; Schara, Ulrike...
Neurology. 84 (2015) 5 - p. 523-531 , 2015

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

9

TRMT5 Mutations Cause a Defect in Post-transcriptional Modi..:

Powell, Christopher A. ; Kopajtich, Robert ; D'Souza, Aaron R....
The American Journal of Human Genetics. 97 (2015) 2 - p. 319-328 , 2015

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

10

Phenotypic spectrum of eleven patients and five novel MTFMT..:

Haack, Tobias B. ; Gorza, Matteo ; Danhauser, Katharina...
Molecular Genetics and Metabolism. 111 (2014) 3 - p. 342-352 , 2014

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

11

Hyperphosphatasia with mental retardation, brachytelephalan..:

Horn, Denise ; Schottmann, Gudrun ; Meinecke, Peter
European Journal of Medical Genetics. 53 (2010) 2 - p. 85-88 , 2010

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

12

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondri..:

Gusic, Mirjana ; Schottmann, Gudrun ; Feichtinger, René G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042493/. , 2020

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

13

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, Birgit M ; Mastantuono, Elisa ; Alston, Charlotte L...
info:eu-repo/semantics/altIdentifier/pmid/30025539. , 2018

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

14

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, Birgit M ; Mastantuono, Elisa ; Alston, Charlotte L...
https://mediatum.ub.tum.de/1510482. , 2018

Link: https://mediatum.ub.tum...

15

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, Birgit M ; Mastantuono, Elisa ; Alston, Charlotte L...
boreal:219940. , 2018

Link: http://hdl.handle.net/20..