nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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. |
artikel |
2 |
Approach to the diagnosis of congenital myopathies
|
North, Kathryn N. |
|
2014 |
24 |
2 |
p. 97-116 20 p. |
artikel |
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. |
artikel |
4 |
Diaphragmatic dysfunction in Collagen VI myopathies
|
Quijano-Roy, S. |
|
2014 |
24 |
2 |
p. 125-133 9 p. |
artikel |
5 |
Editorial Board
|
|
|
2014 |
24 |
2 |
p. IFC- 1 p. |
artikel |
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. |
artikel |
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. |
artikel |
8 |
Inflammatory myopathy with abundant macrophages (IMAM): The immunology revisited
|
Rinnenthal, Jan Leo |
|
2014 |
24 |
2 |
p. 151-155 5 p. |
artikel |
9 |
Muscle-specific kinase antibody associated myasthenia gravis after bone marrow transplantation
|
Heidarzadeh, Zeinab |
|
2014 |
24 |
2 |
p. 148-150 3 p. |
artikel |
10 |
[No title]
|
Brady, Stefen |
|
2014 |
24 |
2 |
p. 193- 1 p. |
artikel |
11 |
[No title]
|
Scalco, Renata Siciliani |
|
2014 |
24 |
2 |
p. 193- 1 p. |
artikel |
12 |
[No title]
|
Mazanti, Ingrid |
|
2014 |
24 |
2 |
p. 192- 1 p. |
artikel |
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. |
artikel |
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. |
artikel |
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. |
artikel |