nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients
|
Humphrey, Emma L. |
|
2015 |
25 |
1 |
p. 32-42 11 p. |
artikel |
2 |
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
|
Baranello, Giovanni |
|
2015 |
25 |
1 |
p. 55-59 5 p. |
artikel |
3 |
A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease
|
Lehmann, Diana |
|
2015 |
25 |
1 |
p. 81-84 4 p. |
artikel |
4 |
Assessment of ventricular function in mouse models of muscular dystrophy: A comparison of MRI with conductance catheter
|
Blain, Alison M. |
|
2015 |
25 |
1 |
p. 24-31 8 p. |
artikel |
5 |
Becoming a back-up carer: Parenting sons with Duchenne muscular dystrophy transitioning into adulthood
|
Yamaguchi, Miku |
|
2015 |
25 |
1 |
p. 85-93 9 p. |
artikel |
6 |
Book review
|
Tuohy, Orla |
|
2015 |
25 |
1 |
p. 109- 1 p. |
artikel |
7 |
Commentary from the Editor
|
Dubowitz, Victor |
|
2015 |
25 |
1 |
p. 1-4 4 p. |
artikel |
8 |
Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits
|
Azuma, Yoshiteru |
|
2015 |
25 |
1 |
p. 60-69 10 p. |
artikel |
9 |
Editorial Board
|
|
|
2015 |
25 |
1 |
p. CO2- 1 p. |
artikel |
10 |
Efficacy of intravenous immunoglobulin for treatment of Lambert–Eaton myasthenic syndrome without anti-presynaptic P/Q-type voltage-gated calcium channel antibodies: A case report
|
Okada, Akinori |
|
2015 |
25 |
1 |
p. 70-72 3 p. |
artikel |
11 |
European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene
|
Haas, Manuel |
|
2015 |
25 |
1 |
p. 5-13 9 p. |
artikel |
12 |
Implantation of a left ventricular assist device as a destination therapy in Duchenne muscular dystrophy patients with end stage cardiac failure: Management and lessons learned
|
Iodice, Francesca |
|
2015 |
25 |
1 |
p. 19-23 5 p. |
artikel |
13 |
Internalized capillaries in skeletal muscle biopsy
|
Hawlik, Andreas |
|
2015 |
25 |
1 |
p. 94-95 2 p. |
artikel |
14 |
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy
|
Lynn, Stephen |
|
2015 |
25 |
1 |
p. 96-105 10 p. |
artikel |
15 |
Myotonic discharges discriminate chloride from sodium muscle channelopathies
|
Drost, Gea |
|
2015 |
25 |
1 |
p. 73-80 8 p. |
artikel |
16 |
[No title]
|
Scott, Kirsten M. |
|
2015 |
25 |
1 |
p. 108- 1 p. |
artikel |
17 |
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies
|
Meilleur, Katherine G. |
|
2015 |
25 |
1 |
p. 43-54 12 p. |
artikel |
18 |
Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy
|
De Sanctis, Roberto |
|
2015 |
25 |
1 |
p. 14-18 5 p. |
artikel |
19 |
Yukio Fukuyama, MD (1928–2014)
|
Osawa, Makiko |
|
2015 |
25 |
1 |
p. 106-107 2 p. |
artikel |