E-LIB Suche - Ergebnisse für: Evila, A.

1

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy ..:

Jonson, P. H. ; Palmio, J. ; Johari, M....
European Journal of Neurology. 25 (2018) 5 - p. 790-794 , 2018

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

2

Targeted next-generation sequencing as a diagnostic tool in..:

Lehtinen, S. ; Penttilä, S. ; Suominen, T....
Neuromuscular Disorders. 26 (2016) - p. S162 , 2016

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

3

The genetic panorama in titin gene by re-sequencing project:

Savarese, M. ; Evila, A. ; Torella, A....
Neuromuscular Disorders. 26 (2016) - p. S113 , 2016

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

4

Targeted next-generation sequencing reveals novel TTN mutat..:

Evilä, A. ; Penttilä, S. ; Hackman, P..
Neuromuscular Disorders. 25 (2015) - p. S282-S283 , 2015

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

5

A novel mutation in DNAJB6 causes LGMD1D in two French fami..:

Jonson, P. ; Evilä, A. ; Stojkovic, T....
Neuromuscular Disorders. 25 (2015) - p. S236 , 2015

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

6

A.P.4:

Vihola, A. ; Palmio, J. ; Tasca, G....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 831-832 , 2014

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

7

G.P.20:

Evila, A. ; Udd, B. ; Hackman, P.
Neuromuscular Disorders. 24 (2014) 9-10 - p. 800 , 2014

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

8

G.P.17:

Hackman, P. ; Evilä, A. ; Udd, B.
Neuromuscular Disorders. 24 (2014) 9-10 - p. 799 , 2014

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

9

G.P.283:

Palmio, J.M.M. ; Evilä, A. ; Jonson, P.H....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 902 , 2014

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

10

P.15.8 Hereditary myopathy with early respiratory failure (..:

Palmio, J. ; Evila, A. ; Tasca, G....
Neuromuscular Disorders. 23 (2013) 9-10 - p. 820-821 , 2013

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

11

P.3.11 Atypical phenotypes in titinopathies explained by se..:

Evila, A. ; Vihola, A. ; Sarparanta, J....
Neuromuscular Disorders. 23 (2013) 9-10 - p. 758-759 , 2013

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

12

G.P.35 Identical TTN gene A-band mutation causing HMERF occ..:

Palmio, J.M. ; Evilä, A. ; Kärppä, M....
Neuromuscular Disorders. 22 (2012) 9-10 - p. 818-819 , 2012

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

13

Eight new mutations and the expanding phenotype variability..:

Penttilä, S. ; Palmio, J. ; Suominen, T....
Neurology. 78 (2012) 12 - p. 897-903 , 2012

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

14

G.O.1 Welander distal myopathy is caused by a mutated RNA b..:

Hackman, P. ; Sarparanta, J. ; Lehtinen, S....
Neuromuscular Disorders. 22 (2012) 9-10 - p. 873 , 2012

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

15

IL2 effect on T lymphocyte phenotype of PBPC from healthy d..:

Baptista, M.J. ; Almeida, A.J. ; Roncon, S....
European Journal of Cancer. 37 (2001) - p. S97 , 2001

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