E-LIB Suche - Ergebnisse für: Senderek, J.

1

Demyelinating Charcot–Marie–Tooth neuropathy associated wit..:

Safka Brozkova, D. ; Stojkovic, T. ; Haberlová, J....
European Journal of Neurology. 27 (2020) 12 - p. 2568-2574 , 2020

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

2

Novel SBF2 mutations and clinical spectrum of Charcot‐Marie..:

Laššuthová, P. ; Vill, K. ; Erdem‐Ozdamar, S....
Clinical Genetics. 94 (2018) 5 - p. 467-472 , 2018

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

3

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA:

Munell, F. ; Gomez-Andrés, D. ; Costa Comellas, L....
Neuromuscular Disorders. 28 (2018) - p. S52 , 2018

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

4

Molecular characterization of congenital myasthenic syndrom..:

Natera-de Benito, D. ; Töpf, A. ; Vilchez, J.J....
Neuromuscular Disorders. 27 (2017) 12 - p. 1087-1098 , 2017

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

5

Autosomal recessive myopathy associated with cataracts and ..:

Roos, A. ; Senderek, J. ; Cox, D....
Neuromuscular Disorders. 27 (2017) - p. S110 , 2017

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

6

Extension of the phenotype of biallelic loss‐of‐function mu..:

Braunisch, M.C. ; Gallwitz, H. ; Abicht, A....
Clinical Genetics. 93 (2017) 2 - p. 255-265 , 2017

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

7

Next generation sequencing technologies in the genetic diag..:

Topf, A. ; Azuma, Y. ; Gorokhova, S....
Neuromuscular Disorders. 27 (2017) - p. S196-S197 , 2017

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

8

A 3'-UTR mutation creates a microRNA target site in the GFP..:

Dusl, M. ; Senderek, J. ; Muller, J. S....
Human Molecular Genetics. 24 (2015) 12 - p. 3418-3426 , 2015

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

9

Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: ..:

Rudnik‐Schöneborn, S. ; Tölle, D. ; Senderek, J....
Clinical Genetics. 89 (2015) 1 - p. 34-43 , 2015

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

10

P967: Two novel HSJ1 mutations in a cohort of distal heredi..:

Gess, B. ; Schirmacher, A. ; Auer-Grumbach, M...
Clinical Neurophysiology. 125 (2014) - p. S305 , 2014

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

11

P5.20 Limb Girdle Congenital Myasthenia Syndrome associated..:

Colomer, J. ; Nascimento, A. ; Ortez, C....
Neuromuscular Disorders. 21 (2011) 9-10 - p. 729-730 , 2011

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

12

P26 Pyridostigmine-responsive limb-girdle congenital myasth..:

Müller, J. ; Senderek, J. ; Dusl, M....
Neuromuscular Disorders. 21 (2011) - p. S13-S14 , 2011

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

13

The p.P56S mutation in the VAPB gene is not due to a single..:

Funke, AD ; Esser, M ; Krüttgen, A...
Clinical Genetics. 77 (2010) 3 - p. 302-303 , 2010

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

14

Proteasomal inhibition alters the trafficking of the neurot..:

Moises, T. ; Wüller, S. ; Saxena, S....
Biochemical and Biophysical Research Communications. 387 (2009) 2 - p. 360-364 , 2009

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

15

P065 Clinical and genetic heterogeneity in Marinesco Sjögre..:

Yis, U. ; Cirak, S. ; Senderek, J....
European Journal of Paediatric Neurology. 13 (2009) - p. S41 , 2009

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