E-LIB Suche - Ergebnisse für: Deschauer, M.

1

Magnetic Resonance Imaging Characteristics of Retinal Vascu..:

Hedderich, D. M. ; Lummel, N. ; Deschauer, M....
Clinical Neuroradiology. 30 (2019) 2 - p. 229-236 , 2019

2

An integrative correlation of myopathology, phenotype and g..:

Kulessa, M. ; Weyer‐Menkhoff, I. ; Viergutz, L....
Neuropathology and Applied Neurobiology. 46 (2019) 4 - p. 359-374 , 2019

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

3

Expanding the phenotype of DNAJC3 mutations: A case with hy..:

Bublitz, S.K. ; Alhaddad, B. ; Synofzik, M....
Clinical Genetics. 92 (2017) 5 - p. 561-562 , 2017

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

4

Molekulargenetische Untersuchung von Patienten mit Mitochon..:

Schubert, Kathrin , 2016

Link: http://nbn-resolving.de/..

5

Neue Methoden für Zukunftswissen:

Deschauer, M.
TATuP - Zeitschrift für Technikfolgenabschätzung in Theorie und Praxis. 24 (2015) 3 - p. 125-128 , 2015

Link: https://doi.org/10.14512..

6

P39. Assigning pathogenicity to three novel mt-tRNA mutatio..:

Lehmann, D. ; Schubert, K. ; Joshi, P.R....
Clinical Neurophysiology. 126 (2015) 8 - p. e115 , 2015

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

7

Phenotypic spectrum of patients with MERRF and mutations in..:

Claeys, K. ; Altmann, J. ; Büchner, B....
Neuromuscular Disorders. 25 (2015) - p. S206 , 2015

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

8

Enzyme replacement therapy and antibodies in late-onset Pom..:

Schneider, I. ; Deschauer, M. ; Hanisch, F.
Molecular Genetics and Metabolism Reports. 1 (2014) - p. 232-234 , 2014

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

9

A.P.3:

Semmler, A.L. ; Sacconi, S. ; Bach, J.E....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 831 , 2014

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

10

Dissecting the mechanisms underlying the accumulation of mi..:

Campbell, G. ; Krishnan, K. J. ; Deschauer, M...
Human Molecular Genetics. 23 (2014) 17 - p. 4612-4620 , 2014

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

11

Altered localization, abnormal modification and loss of fun..:

Prause, J. ; Goswami, A. ; Katona, I....
Human Molecular Genetics. 22 (2013) 8 - p. 1581-1600 , 2013

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

12

Metabolische und mitochondriale Myopathien:

Vorgerd, M. ; Deschauer, M.
Zeitschrift für Rheumatologie. 72 (2013) 3 - p. 242-254 , 2013

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

13

Pain in adult patients with Pompe disease:

Güngör, D. ; Schober, A.K. ; Kruijshaar, M.E....
Molecular Genetics and Metabolism. 109 (2013) 4 - p. 371-376 , 2013

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

14

Diagnose und Therapie des Late-onset-Morbus-Pompe; Diagnosi..:

Schüller, A. ; Kornblum, C. ; Deschauer, M....
Der Nervenarzt. 84 (2013) 12 - p. 1467-1472 , 2013

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

15

Myofibrilläre Myopathie bei ZASP-Mutation Ala147Thr: Zwei F..:

Kraya, T. ; Kress, W. ; Stoevesant, D...
Der Nervenarzt. 84 (2012) 2 - p. 209-213 , 2012

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