nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
ANO5 mutations in the Dutch limb girdle muscular dystrophy population
|
van der Kooi, Anneke J. |
|
2013 |
23 |
6 |
p. 456-460 5 p. |
artikel |
2 |
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation
|
Neri, M. |
|
2013 |
23 |
6 |
p. 478-482 5 p. |
artikel |
3 |
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands
|
Stalpers, Xenia L. |
|
2013 |
23 |
6 |
p. 461-468 8 p. |
artikel |
4 |
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1
|
Basiri, Keivan |
|
2013 |
23 |
6 |
p. 469-472 4 p. |
artikel |
5 |
Early neurodevelopmental assessment in Duchenne muscular dystrophy
|
Pane, Marika |
|
2013 |
23 |
6 |
p. 451-455 5 p. |
artikel |
6 |
Editorial Board
|
|
|
2013 |
23 |
6 |
p. IFC- 1 p. |
artikel |
7 |
Extracellular magnesium and calcium reduce myotonia in ClC-1 inhibited rat muscle
|
Skov, Martin |
|
2013 |
23 |
6 |
p. 489-502 14 p. |
artikel |
8 |
Forty-five years to diagnosis
|
Erdmann, Jeanette |
|
2013 |
23 |
6 |
p. 503-505 3 p. |
artikel |
9 |
Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment
|
Kounis, Nicholas G. |
|
2013 |
23 |
6 |
p. 524-525 2 p. |
artikel |
10 |
[No title]
|
Orsucci, Daniele |
|
2013 |
23 |
6 |
p. 525- 1 p. |
artikel |
11 |
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
|
Pierson, Tyler Mark |
|
2013 |
23 |
6 |
p. 483-488 6 p. |
artikel |
12 |
191st ENMC International Workshop: Recent advances in oculopharyngeal muscular dystrophy research: From bench to bedside 8-10 June 2012, Naarden, The Netherlands
|
Raz, Vered |
|
2013 |
23 |
6 |
p. 516-523 8 p. |
artikel |
13 |
189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands
|
Rahman, Shamima |
|
2013 |
23 |
6 |
p. 506-515 10 p. |
artikel |
14 |
Vacuolar myopathy in an adult Warmblood horse
|
Massey, C.A. |
|
2013 |
23 |
6 |
p. 473-477 5 p. |
artikel |