| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy
|
Van den Bergh, P.Y.K.
|
|
2017
|
27 |
11 |
p. 1043-1046
4 p.
|
artikel
|
| 2 |
A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy
|
Harris, Elizabeth
|
|
2017
|
27 |
11 |
p. 1009-1017
9 p.
|
artikel
|
| 3 |
Book review
|
Dean, Andrew
|
|
2017
|
27 |
11 |
p. 1073-
1 p.
|
artikel
|
| 4 |
Clinical heterogeneity in Andersen-Tawil syndrome
|
Totomoch-Serra, Armando
|
|
2017
|
27 |
11 |
p. 1074-1075
2 p.
|
artikel
|
| 5 |
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
|
Abath Neto, Osorio
|
|
2017
|
27 |
11 |
p. 975-985
11 p.
|
artikel
|
| 6 |
Corrigendum to “22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd–7th October 2017” [Neuromuscular Disorders 27S2 (2017) S51–S270]
|
Rendu, J.
|
|
2017
|
27 |
11 |
p. e1-
1 p.
|
artikel
|
| 7 |
Editorial Board
|
|
|
2017
|
27 |
11 |
p. CO2-
1 p.
|
artikel
|
| 8 |
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome
|
Vengalil, Seena
|
|
2017
|
27 |
11 |
p. 986-996
11 p.
|
artikel
|
| 9 |
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide
|
Reza, Mojgan
|
|
2017
|
27 |
11 |
p. 1054-1064
11 p.
|
artikel
|
| 10 |
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease
|
Inal-Gültekin, Güldal
|
|
2017
|
27 |
11 |
p. 997-1008
12 p.
|
artikel
|
| 11 |
Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup
|
Matsumoto, Masaaki
|
|
2017
|
27 |
11 |
p. 1023-1028
6 p.
|
artikel
|
| 12 |
Reduced renal function in patients with Myotonic Dystrophy type 1 and the association to CTG expansion and other potential risk factors for chronic kidney disease
|
Aldenbratt, Annika
|
|
2017
|
27 |
11 |
p. 1038-1042
5 p.
|
artikel
|
| 13 |
Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects
|
Lencioni, Tiziana
|
|
2017
|
27 |
11 |
p. 1029-1037
9 p.
|
artikel
|
| 14 |
The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure
|
Sansone, Valeria A.
|
|
2017
|
27 |
11 |
p. 1047-1053
7 p.
|
artikel
|
| 15 |
230th ENMC International Workshop:
|
Pruppers, Mariëlle H.J.
|
|
2017
|
27 |
11 |
p. 1065-1072
8 p.
|
artikel
|
| 16 |
Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy
|
Wu, Liang
|
|
2017
|
27 |
11 |
p. 1018-1022
5 p.
|
artikel
|
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