| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender
|
Raymond, Kateri
|
|
2017
|
27 |
7 |
p. 673-682
10 p.
|
artikel
|
| 2 |
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy
|
Zaum, Ann-Kathrin
|
|
2017
|
27 |
7 |
p. 631-634
4 p.
|
artikel
|
| 3 |
Deterioration in gait and functional ambulation in children and adolescents with Charcot–Marie–Tooth disease over 12 months
|
Kennedy, Rachel
|
|
2017
|
27 |
7 |
p. 658-666
9 p.
|
artikel
|
| 4 |
Dramatic elevation in urinary amino terminal titin fragment excretion quantified by immunoassay in Duchenne muscular dystrophy patients and in dystrophin deficient rodents
|
Robertson, Alan S.
|
|
2017
|
27 |
7 |
p. 635-645
11 p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
2017
|
27 |
7 |
p. CO2-
1 p.
|
artikel
|
| 6 |
Expanding the phenotypic spectrum associated with mutations of DYNC1H1
|
Beecroft, Sarah J.
|
|
2017
|
27 |
7 |
p. 607-615
9 p.
|
artikel
|
| 7 |
Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA
|
Hoffman, E.P.
|
|
2017
|
27 |
7 |
p. 693-701
9 p.
|
artikel
|
| 8 |
HLA and age of onset in myasthenia gravis
|
Santos, Ernestina
|
|
2017
|
27 |
7 |
p. 650-654
5 p.
|
artikel
|
| 9 |
John McCormack Howell (1932–2017)
|
Kakulas, Byron A.
|
|
2017
|
27 |
7 |
p. 702-703
2 p.
|
artikel
|
| 10 |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations
|
Balcin, Hasan
|
|
2017
|
27 |
7 |
p. 627-630
4 p.
|
artikel
|
| 11 |
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation
|
Alhamidi, Maisoon
|
|
2017
|
27 |
7 |
p. 619-626
8 p.
|
artikel
|
| 12 |
Novel truncating variant in DNA2-related congenital onset myopathy and ptosis suggests genotype–phenotype correlation
|
Phowthongkum, P.
|
|
2017
|
27 |
7 |
p. 616-618
3 p.
|
artikel
|
| 13 |
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease
|
García-Sobrino, Tania
|
|
2017
|
27 |
7 |
p. 667-672
6 p.
|
artikel
|
| 14 |
Selective or predominant triceps muscle weakness in African–American patients with myasthenia gravis
|
Abraham, Alon
|
|
2017
|
27 |
7 |
p. 646-649
4 p.
|
artikel
|
| 15 |
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France
|
Marsolier, Justine
|
|
2017
|
27 |
7 |
p. 683-692
10 p.
|
artikel
|
| 16 |
Transient neonatal myasthenia gravis due to a mother with ocular onset of anti-muscle specific kinase myasthenia gravis
|
Lee, Ju-Yeun
|
|
2017
|
27 |
7 |
p. 655-657
3 p.
|
artikel
|
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