E-LIB Suche - Ergebnisse für: Männikkö, R

1

Associations between weight loss history and factors relate..:

Halali, F. ; Lapveteläinen, A. ; Aittola, K....
International Journal of Obesity. 46 (2022) 5 - p. 935-942 , 2022

Link: https://doi.org/10.1038/..

2

Excitability properties of mouse and human skeletal muscle ..:

Suetterlin, K.J. ; Männikkö, R. ; Matthews, E....
Neuromuscular Disorders. 32 (2022) 4 - p. 347-357 , 2022

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

3

Clinical and genetic spectrum of a Chinese cohort with SCN4..:

Sun, J. ; Luo, S. ; Suetterlin, K.J....
Neuromuscular Disorders. 31 (2021) 9 - p. 829-838 , 2021

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

4

MYASTHENIA & RELATED DISORDERS:

Palmio, J. ; Mannikko, R. ; Udd, B.
Neuromuscular Disorders. 30 (2020) - p. S58 , 2020

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

5

Ataluren increases functional expression of R894X mutant sk..:

Suetterlin, K. ; Matthews, E. ; Männikkö, R..
Neuromuscular Disorders. 28 (2018) - p. S29 , 2018

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

6

Improving genetic diagnosis and counselling for patients wi..:

Suetterlin, K. ; Sud, R. ; Burge, J....
Neuromuscular Disorders. 27 (2017) - p. S34 , 2017

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

7

Hypokalaemic periodic paralysis due to a novel ATP1A2 mutat..:

Matthews, E. ; Zanoteli, E. ; Scalco, R.S....
Neuromuscular Disorders. 27 (2017) - p. S33 , 2017

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

8

Recessive SCN4A loss of function in congenital myasthenic s..:

Thor, M.G. ; Hanna, M.G. ; Muntoni, F..
Neuromuscular Disorders. 27 (2017) - p. S34-S35 , 2017

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

9

Large scale validation of functional expression of ClC-1 va..:

Suetterlin, K. ; Sud, R. ; Burge, J....
Neuromuscular Disorders. 27 (2017) - p. S165 , 2017

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

10

Congenital myopathy with selective muscle atrophy, necklace..:

Gonorazky, H. ; Marshall, C. ; Hazrati, L....
Neuromuscular Disorders. 26 (2016) - p. S193 , 2016

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

11

Pharmacological and electrophysiological characterization o..:

Mannikko, R ; Bridgland‐Taylor, M H ; Pye, H...
British Journal of Pharmacology. 172 (2015) 12 - p. 3112-3125 , 2015

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

12

Recessive loss-of-function SCN4A mutations associated with ..:

Zaharieva, I. ; Thor, M. ; Oates, E....
Neuromuscular Disorders. 25 (2015) - p. S275-S276 , 2015

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

13

P46 Functional investigation of a novel mutation causing a ..:

Gardiner, A.R. ; Mannikko, R. ; Schorge, S...
Neuromuscular Disorders. 24 (2014) - p. S19 , 2014

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

14

P44 Mutations of the same S4 arginine residue in NaV1.4 can..:

Thor, M.G. ; Durran, S. ; Matthews, E....
Neuromuscular Disorders. 24 (2014) - p. S18-S19 , 2014

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

15

P43 Functional characterisation of the novel CLC-1 variants..:

Suetterlin, K. ; Hanna, M.G. ; Männikkö, R.
Neuromuscular Disorders. 24 (2014) - p. S18 , 2014

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