| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy
|
Jeppesen, Tina Dysgaard
|
|
2014
|
24 |
2 |
p. 162-166
5 p.
|
article
|
| 2 |
Approach to the diagnosis of congenital myopathies
|
North, Kathryn N.
|
|
2014
|
24 |
2 |
p. 97-116
20 p.
|
article
|
| 3 |
Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy
|
Fan, Zheng
|
|
2014
|
24 |
2 |
p. 178-191
14 p.
|
article
|
| 4 |
Diaphragmatic dysfunction in Collagen VI myopathies
|
Quijano-Roy, S.
|
|
2014
|
24 |
2 |
p. 125-133
9 p.
|
article
|
| 5 |
Editorial Board
|
|
|
2014
|
24 |
2 |
p. IFC-
1 p.
|
article
|
| 6 |
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy
|
Komlósi, Katalin
|
|
2014
|
24 |
2 |
p. 156-161
6 p.
|
article
|
| 7 |
Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface
|
Webster, Richard
|
|
2014
|
24 |
2 |
p. 143-147
5 p.
|
article
|
| 8 |
Inflammatory myopathy with abundant macrophages (IMAM): The immunology revisited
|
Rinnenthal, Jan Leo
|
|
2014
|
24 |
2 |
p. 151-155
5 p.
|
article
|
| 9 |
Muscle-specific kinase antibody associated myasthenia gravis after bone marrow transplantation
|
Heidarzadeh, Zeinab
|
|
2014
|
24 |
2 |
p. 148-150
3 p.
|
article
|
| 10 |
[No title]
|
Brady, Stefen
|
|
2014
|
24 |
2 |
p. 193-
1 p.
|
article
|
| 11 |
[No title]
|
Scalco, Renata Siciliani
|
|
2014
|
24 |
2 |
p. 193-
1 p.
|
article
|
| 12 |
[No title]
|
Mazanti, Ingrid
|
|
2014
|
24 |
2 |
p. 192-
1 p.
|
article
|
| 13 |
Novel TPM3 mutation in a family with cap myopathy and review of the literature
|
Schreckenbach, T.
|
|
2014
|
24 |
2 |
p. 117-124
8 p.
|
article
|
| 14 |
Phosphorylase re-expression, increase in the force of contraction and decreased fatigue following notexin-induced muscle damage and regeneration in the ovine model of McArdle disease
|
Howell, J.McC.
|
|
2014
|
24 |
2 |
p. 167-177
11 p.
|
article
|
| 15 |
Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study
|
Kirschner, J.
|
|
2014
|
24 |
2 |
p. 134-142
9 p.
|
article
|
Journal description