E-LIB Suche - Ergebnisse für: Gruber-Sedlmayr, U.

1

Epileptic phenotypes, electroclinical features and clinical..:

Haberlandt, E. ; Ensslen, M. ; Gruber-Sedlmayr, U....
European Journal of Paediatric Neurology. 21 (2017) 3 - p. 457-464 , 2017

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

2

P65 – 2865: Basal ganglia inflammation and a severe dystoni..:

Gruber-Sedlmayr, U. ; Pfurtscheller, K. ; Ulreich, R....
European Journal of Paediatric Neurology. 19 (2015) - p. S112 , 2015

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

3

The burden of pneumococcal meningitis in Austrian children ..:

Klobassa, D. S. ; Zoehrer, B. ; Paulke-Korinek, M....
European Journal of Pediatrics. 173 (2014) 7 - p. 871-878 , 2014

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

4

Differences and similarities in the evolution of morphologi..:

Pichler, A. ; Enzinger, C. ; Fuchs, S....
Multiple Sclerosis Journal. 19 (2012) 2 - p. 167-172 , 2012

Link: https://doi.org/10.1177/..

5

A splice site variant in the sodium channel geneSCN1Aconfer..:

Schlachter, K. ; Gruber-Sedlmayr, U. ; Stogmann, E....
Neurology. 72 (2009) 11 - p. 974-978 , 2009

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

6

Natural clusters of tuberous sclerosis complex (TSC)-associ..:

De Vries P. J ; Belousova E ; Benedik M. P...
info:eu-repo/semantics/altIdentifier/pmid/32873244. , 2020

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

7

Newly Diagnosed and Growing Subependymal Giant Cell Astrocy..:

Jansen, AC ; Belousova, E ; Benedik, MP...
https://discovery.ucl.ac.uk/id/eprint/10080432/1/fneur-10-00821.pdf. , 2019

Link: https://discovery.ucl.ac..

8

Treatment Patterns and Use of Resources in Patients With Tu..:

Marques, R ; Belousoye, E ; Benedik, MP...
https://discovery.ucl.ac.uk/id/eprint/10086259/1/fneur-10-01144.pdf. , 2019

Link: https://discovery.ucl.ac..

9

Clinical Characteristics of Subependymal Giant Cell Astrocy..:

Jansen, AC ; Belousova, E ; Benedik, MP...
https://discovery.ucl.ac.uk/id/eprint/10078137/7/O%27Callaghan_Clinical%20Characteristics%20of%20Subependymal%20Giant%20Cell%20Astrocytoma%20in%20Tuberous%20Sclerosis%20Complex_VoR.pdf. , 2019

Link: https://discovery.ucl.ac..

10

TSC-associated neuropsychiatric disorders (TAND): findings ..:

de Vries P. J ; Belousova E ; Benedik M. P...
info:eu-repo/semantics/altIdentifier/pmid/30201051. , 2018

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

11

Evaluation of Presumably Disease Causing SCN1A Variants in ..:

Lal, D ; Reinthaler, EM ; Dejanovici, B...
Lal , D , Reinthaler , EM , Dejanovici , B , May , P , Thiele , H , Lehesjoki , AE , Schwarz , G , Riesch , E , Ikram , A , Duijn , C , Uitterlinden , A , Hofman , B , Steinbock , H , Gruber-Sedlmayr , U , Neophytou , B , Zara , F , Hahn , A , Gormley , P , Becker , F , Weber , YG , Cilio , MR , Kunz , WS , Krause , R , Zimprich , F , Lemke , JR , Nurnberg , P , Sander , T , Lerche , H & Neubauer , BA 2016 , ' Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes ' , PLoS One (print) , vol. 11 , no. 3 . https://doi.org/10.1371/journal.pone.0150426. , 2016

Link: https://pure.eur.nl/en/p..

12

Evaluation of presumably disease causing SCN1A variants in ..:

Lal D ; Reinthaler E.M ; Dejanovic B...
Lal D., Reinthaler E.M., Dejanovic B., May P., Thiele H., Lehesjoki A.-E., Schwarz G., Riesch E., Ikram M.A., Van Duijn C.M., Uitterlinden A.G., Hofman A., Steinböck H., Gruber-Sedlmayr U., Neophytou B., Zara F., Hahn A., Gormley P., Becker F., Weber Y.G., Cilio M.R., Kunz W.S., Krause R., Zimprich F., Lemke J.R., Nürnberg P., Sander T., Lerche H., Neubauer B.A., Palotie A., Ruppert A.-K., Suls A., Siren A., Koeleman B., Haberlandt E., Ronen G.M., Caglayan H., Hjalgrim H., Muhle H., Schulz H., Helbig I., Altmüller J., Geldner J., Schubert J., Jabbari K., Everett K., Feucht M., Balestri M., Nothnagel M., Striano P., Møller R.S., Nabbout R., Balling R., Baulac S., Bianchi A., La Neve A., Minetti C., Giuseppe C. (2016). Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes. PLoS ONE 11 (3) : e0150426. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0150426. , 2016

Link: https://scholarbank.nus...

13

Evaluation of presumably disease causing SCN1A variants in ..:

Lal, D ; Reinthaler, E.M ; Dejanovic, B...
http://edoc.mdc-berlin.de/20679/1/20679oa.pdf. , 2016

Link: http://edoc.mdc-berlin.d..

14

Clinical and neuroradiological differences of paediatric ac..:

Baumann, M ; Sahin, K ; Lechner, C...
https://mediatum.ub.tum.de/1421689. , 2014

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

15

16p11.2 600 kb Duplications confer risk for typical and aty..:

Reinthaler, E.M ; Lal, D ; Lebon, S...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddu306. , 2014

Link: https://serval.unil.ch/n..