| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair
|
Strang-Karlsson, Sonja
|
|
2018
|
28 |
7 |
p. 614-618
|
artikel
|
| 2 |
Editorial Board
|
|
|
2018
|
28 |
7 |
p. IFC
|
artikel
|
| 3 |
Female dystrophinopathy: Review of current literature
|
Ishizaki, Masatoshi
|
|
2018
|
28 |
7 |
p. 572-581
|
artikel
|
| 4 |
High urinary ferritin reflects myoglobin iron evacuation in DMD patients
|
Rouillon, Jérémy
|
|
2018
|
28 |
7 |
p. 564-571
|
artikel
|
| 5 |
Meeting report of the “Regulatory Exchange Matters” session at the 5th International TREAT-NMD Conference:
|
Aartsma-Rus, Annemieke
|
|
2018
|
28 |
7 |
p. 619-623
|
artikel
|
| 6 |
Myotonia congenita in a Labrador Retriever with truncated CLCN1
|
Quitt, Pia R.
|
|
2018
|
28 |
7 |
p. 597-605
|
artikel
|
| 7 |
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant
|
Latimer, Caitlin S.
|
|
2018
|
28 |
7 |
p. 606-609
|
artikel
|
| 8 |
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function
|
Pane, Marika
|
|
2018
|
28 |
7 |
p. 582-585
|
artikel
|
| 9 |
Skin cells for use in an alternate diagnostic method for Duchenne muscular dystrophy
|
Tyers, Lynn
|
|
2018
|
28 |
7 |
p. 553-563
|
artikel
|
| 10 |
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen
|
Kumutpongpanich, Theerawat
|
|
2018
|
28 |
7 |
p. 610-613
|
artikel
|
| 11 |
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
|
Savarese, Marco
|
|
2018
|
28 |
7 |
p. 586-591
|
artikel
|
| 12 |
Uniparental disomy unveils a novel recessive mutation in POMT2
|
Brun, Brianna N.
|
|
2018
|
28 |
7 |
p. 592-596
|
artikel
|
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