| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
|
Balci, Burcu
|
|
2005
|
15 |
4 |
p. 271-275
5 p.
|
artikel
|
| 2 |
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
|
Deschauer, Marcus
|
|
2005
|
15 |
4 |
p. 311-315
5 p.
|
artikel
|
| 3 |
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)
|
Tajsharghi, Homa
|
|
2005
|
15 |
4 |
p. 299-302
4 p.
|
artikel
|
| 4 |
IFC: Editorial Board
|
|
|
2005
|
15 |
4 |
p. co2-
1 p.
|
artikel
|
| 5 |
Instructions to Authors
|
|
|
2005
|
15 |
4 |
p. 328-329
2 p.
|
artikel
|
| 6 |
Mitochondrial encephalomyopathies: an update
|
DiMauro, Salvatore
|
|
2005
|
15 |
4 |
p. 276-286
11 p.
|
artikel
|
| 7 |
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
|
Lobrinus, J.A.
|
|
2005
|
15 |
4 |
p. 293-298
6 p.
|
artikel
|
| 8 |
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy
|
Mercuri, Eugenio
|
|
2005
|
15 |
4 |
p. 303-310
8 p.
|
artikel
|
| 9 |
[No title]
|
van Gijn, J.
|
|
2005
|
15 |
4 |
p. 326-327
2 p.
|
artikel
|
| 10 |
[No title]
|
van Gijn, J.
|
|
2005
|
15 |
4 |
p. 326-
1 p.
|
artikel
|
| 11 |
Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1)
|
Winblad, S.
|
|
2005
|
15 |
4 |
p. 287-292
6 p.
|
artikel
|
| 12 |
The genes encoding for D4Z4 binding proteins HMGB2, YY1, NCL, and MYOD1 are excluded as candidate genes for FSHD1B
|
Bastress, K.L.
|
|
2005
|
15 |
4 |
p. 316-320
5 p.
|
artikel
|
| 13 |
129th ENMC International Workshop: Clinical Trials for Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Multifocal Motor Neuropathy, 27th October 2004, Schiphol airport, The Netherlands
|
Hughes, Richard
|
|
2005
|
15 |
4 |
p. 321-325
5 p.
|
artikel
|
| 14 |
Walker–Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin
|
Muntoni, Francesco
|
|
2005
|
15 |
4 |
p. 269-270
2 p.
|
artikel
|
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