E-LIB Suche - Ergebnisse für: Cirak, S.

1

Clinical, electrophysiological and genetic characteristics ..:

Paketci, C. ; Karakaya, M. ; Edem, P....
Revue Neurologique. 176 (2020) 10 - p. 846-855 , 2020

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

2

FV 49 Fast-myosin myopathy as a rare cause of external opht..:

Wunderlich, G. ; Weis, J. ; Kreutzer, M....
Clinical Neurophysiology. 130 (2019) 8 - p. e143 , 2019

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

3

P.234Disruptive recessive TTN missense mutations cause a wi..:

Rees, M. ; Fukuzawa, A. ; Nikoopour, R....
Neuromuscular Disorders. 29 (2019) - p. S135 , 2019

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

4

Translational biochemistry for dystroglycanopathies:

Wang, H. ; Sprute, R. ; Daimagüler, H..
Neuromuscular Disorders. 27 (2017) - p. S109 , 2017

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

5

Severe form of recessive Charcot-Marie-Tooth disease with a..:

Bayram, A. ; Stumpfe, K. ; Wang, H....
Neuromuscular Disorders. 27 (2017) - p. S147 , 2017

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

6

Recessively-acting choline transporter mutations associated..:

Wang, H. ; Salter, S. ; Refai, O....
Neuromuscular Disorders. 27 (2017) - p. S220-S221 , 2017

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

7

Genetic Landscape of congenital myasthenic syndroms from Tu..:

Yiş, U. ; Becker, K. ; Kurul, S....
Neuromuscular Disorders. 27 (2017) - p. S221 , 2017

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

8

P 42 Congenital myasthenia in adult patients – a diagnostic..:

Ritter, C. ; Cirak, S. ; Abicht, A....
Clinical Neurophysiology. 128 (2017) 10 - p. e351 , 2017

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

9

Pediatric presentation of Marinesco–Sjögren syndrome with a..:

Kaçar Bayram, A. ; Bayram, N. ; Çırak, S....
Neuromuscular Disorders. 26 (2016) - p. S118 , 2016

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

10

Neuroimaging signatures of alpha-dystroglycanopathies (ADG)..:

Ardicli, D. ; Gocmen, R. ; Cirak, S....
Neuromuscular Disorders. 26 (2016) - p. S163-S164 , 2016

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

11

A new homozygous frameshifting mutation in SPEG causes mild..:

Kaçar Bayram, A. ; Per, H. ; Zorludemir, S....
Neuromuscular Disorders. 26 (2016) - p. S117-S118 , 2016

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

12

Congenital mirror movements in alpha-dystroglycanopathy (AD..:

Ardicli, D. ; Gocmen, R. ; Cirak, S....
Neuromuscular Disorders. 26 (2016) - p. S165 , 2016

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

13

DMD genotypes and loss of ambulation in the CINRG Duchenne ..:

Bello, L. ; Morgenroth, L. ; Gordish-Dressman, H....
Neuromuscular Disorders. 26 (2016) - p. S119 , 2016

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

14

WES revealed a de-novo missense mutation in the NALCN gene ..:

Karakaya, M. ; Kunde, V. ; Heller, R...
Neuromuscular Disorders. 25 (2015) - p. S277 , 2015

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

15

Discovery of biomarkers for LGMD2I:

Heredia, R. ; Hathout, Y. ; Moore, S...
Neuromuscular Disorders. 25 (2015) - p. S234 , 2015

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