| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins
|
Saito, F.
|
|
2004
|
14 |
2 |
p. 158-161
4 p.
|
artikel
|
| 2 |
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis
|
McFarland, Robert
|
|
2004
|
14 |
2 |
p. 162-166
5 p.
|
artikel
|
| 3 |
Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data
|
Leo, Rita Di
|
|
2004
|
14 |
2 |
p. 136-141
6 p.
|
artikel
|
| 4 |
Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study
|
Mercuri, E.
|
|
2004
|
14 |
2 |
p. 125-129
5 p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
2004
|
14 |
2 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy
|
Marston, Steven
|
|
2004
|
14 |
2 |
p. 167-174
8 p.
|
artikel
|
| 7 |
Increased resting energy expenditure in subjects with Emery-Dreifuss muscular dystrophy
|
Vaisman, N
|
|
2004
|
14 |
2 |
p. 142-146
5 p.
|
artikel
|
| 8 |
Instructions to authors
|
|
|
2004
|
14 |
2 |
p. 181-182
2 p.
|
artikel
|
| 9 |
Living with Myositis
|
Hutson, J
|
|
2004
|
14 |
2 |
p. 179-
1 p.
|
artikel
|
| 10 |
Macrophagic myofasciitis: an infantile Italian case
|
Di Muzio, A.
|
|
2004
|
14 |
2 |
p. 175-177
3 p.
|
artikel
|
| 11 |
Neuromuscular Disorders of Infancy, Childhood and Adolescence. A Clinician's Approach
|
Quinlivan, Ros
|
|
2004
|
14 |
2 |
p. 180-
1 p.
|
artikel
|
| 12 |
Parkinson's Disease and Movement Disorders
|
Gregory, Ralph
|
|
2004
|
14 |
2 |
p. 178-
1 p.
|
artikel
|
| 13 |
Pediatric Neurology (House Officer Series)
|
Jayawant, Sandeep
|
|
2004
|
14 |
2 |
p. 179-
1 p.
|
artikel
|
| 14 |
Peripheral Neuropathy A Practical Approach to Diagnosis and Management
|
Reilly, Mary M
|
|
2004
|
14 |
2 |
p. 178-
1 p.
|
artikel
|
| 15 |
Pilot trial of phenylbutyrate in spinal muscular atrophy
|
Mercuri, Eugenio
|
|
2004
|
14 |
2 |
p. 130-135
6 p.
|
artikel
|
| 16 |
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
|
Züchner, Stephan
|
|
2004
|
14 |
2 |
p. 147-157
11 p.
|
artikel
|
Tijdschrift beschrijving