| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches
|
Eggermann, Thomas
|
|
2008
|
18 |
2 |
p. 146-149
4 p.
|
artikel
|
| 2 |
Apolipoprotein ε alleles in sporadic inclusion body myositis: A reappraisal
|
Needham, Merrilee
|
|
2008
|
18 |
2 |
p. 150-152
3 p.
|
artikel
|
| 3 |
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family
|
Pica, Emmanuel C.
|
|
2008
|
18 |
2 |
p. 178-182
5 p.
|
artikel
|
| 4 |
Danon disease: A novel Lamp-2 gene mutation in a family with four affected members
|
Tuñón, T.
|
|
2008
|
18 |
2 |
p. 167-174
8 p.
|
artikel
|
| 5 |
Dropped head syndrome as prominent clinical feature in MuSK-positive Myasthenia Gravis with thymus hyperplasia
|
Spengos, Konstantinos
|
|
2008
|
18 |
2 |
p. 175-177
3 p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
2008
|
18 |
2 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Forthcoming meetings
|
|
|
2008
|
18 |
2 |
p. III-
1 p.
|
artikel
|
| 8 |
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy
|
D’Amico, Adele
|
|
2008
|
18 |
2 |
p. 153-155
3 p.
|
artikel
|
| 9 |
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy
|
Siala, Olfa
|
|
2008
|
18 |
2 |
p. 137-145
9 p.
|
artikel
|
| 10 |
Marinesco–Sjogren syndrome, Fanfare, and more
|
Merlini, Luciano
|
|
2008
|
18 |
2 |
p. 185-188
4 p.
|
artikel
|
| 11 |
Menstrual blood-derived progenitor cells as a novel cell therapy for DMD - too valuable to be discarded?
|
|
|
2008
|
18 |
2 |
p. 190-191
2 p.
|
artikel
|
| 12 |
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis
|
Huehne, Kathrin
|
|
2008
|
18 |
2 |
p. 159-166
8 p.
|
artikel
|
| 13 |
Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK
|
Kakourou, Georgia
|
|
2008
|
18 |
2 |
p. 131-136
6 p.
|
artikel
|
| 14 |
Severe sensorimotor neuropathy after intake of highest dosages of vitamin B6
|
Gdynia, Hans-Jürgen
|
|
2008
|
18 |
2 |
p. 156-158
3 p.
|
artikel
|
| 15 |
Spinal muscular atrophy: Where does survival motor neuron (SMN) protein live these days?
|
|
|
2008
|
18 |
2 |
p. 189-190
2 p.
|
artikel
|
| 16 |
Update in Neuromuscular Disorders
|
|
|
2008
|
18 |
2 |
p. 192-
1 p.
|
artikel
|
| 17 |
WMS online application
|
|
|
2008
|
18 |
2 |
p. I-
1 p.
|
artikel
|
| 18 |
WMS - 13th International Congress
|
|
|
2008
|
18 |
2 |
p. II-
1 p.
|
artikel
|
| 19 |
X-linked myotubular myopathy and chylothorax
|
Smets, Koenraad
|
|
2008
|
18 |
2 |
p. 183-184
2 p.
|
artikel
|
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