| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A SCN4A mutation causing paramyotonia congenita
|
Palma, Carmen
|
|
2017
|
27 |
12 |
p. 1123-1125
|
artikel
|
| 2 |
Corrigendum to ‘Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient’ [Neuromuscular Disorders 27 (2017) 856–860]
|
Ikenberg, Elena
|
|
2017
|
27 |
12 |
p. e1
|
artikel
|
| 3 |
Different profiles of upper limb function in four types of neuromuscular disorders
|
Bergsma, Arjen
|
|
2017
|
27 |
12 |
p. 1115-1122
|
artikel
|
| 4 |
Early onset facioscapulohumeral dystrophy – a systematic review using individual patient data
|
Goselink, Rianne J.M.
|
|
2017
|
27 |
12 |
p. 1077-1083
|
artikel
|
| 5 |
Editorial Board
|
|
|
2017
|
27 |
12 |
p. CO2
|
artikel
|
| 6 |
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience
|
Messina, Sonia
|
|
2017
|
27 |
12 |
p. 1084-1086
|
artikel
|
| 7 |
International Workshop:
|
Mancuso, Michelangelo
|
|
2017
|
27 |
12 |
p. 1126-1137
|
artikel
|
| 8 |
Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy
|
van der Sluijs, B.M.
|
|
2017
|
27 |
12 |
p. 1099-1105
|
artikel
|
| 9 |
Molecular characterization of congenital myasthenic syndromes in Spain
|
Natera-de Benito, D.
|
|
2017
|
27 |
12 |
p. 1087-1098
|
artikel
|
| 10 |
Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution
|
Murillo-Melo, N.M.
|
|
2017
|
27 |
12 |
p. 1106-1114
|
artikel
|
| 11 |
221st ENMC International Workshop:
|
Reilly, Mary M.
|
|
2017
|
27 |
12 |
p. 1138-1142
|
artikel
|
| 12 |
211th ENMC International Workshop:
|
Quinlivan, Ros
|
|
2017
|
27 |
12 |
p. 1143-1151
|
artikel
|
| 13 |
The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)
|
Bonne, Gisèle
|
|
2017
|
27 |
12 |
p. 1152-1183
|
artikel
|
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