| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle
|
Malfatti, Edoardo
|
|
2016
|
26 |
10 |
p. 681-687
7 p.
|
artikel
|
| 2 |
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
|
Todeschini, Alice
|
|
2016
|
26 |
10 |
p. 662-665
4 p.
|
artikel
|
| 3 |
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
|
Ng, Yi Shiau
|
|
2016
|
26 |
10 |
p. 702-705
4 p.
|
artikel
|
| 4 |
Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report
|
Hendriksen, Jos G.M.
|
|
2016
|
26 |
10 |
p. 659-661
3 p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
2016
|
26 |
10 |
p. CO2-
1 p.
|
artikel
|
| 6 |
Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort
|
Boussaïd, Ghilas
|
|
2016
|
26 |
10 |
p. 666-674
9 p.
|
artikel
|
| 7 |
Histological effects of givinostat in boys with Duchenne muscular dystrophy
|
Bettica, Paolo
|
|
2016
|
26 |
10 |
p. 643-649
7 p.
|
artikel
|
| 8 |
Identifying evidence of cardio-renal syndrome in patients with Duchenne muscular dystrophy using cystatin C
|
Villa, Chet R.
|
|
2016
|
26 |
10 |
p. 637-642
6 p.
|
artikel
|
| 9 |
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
|
Seferian, Andreea M.
|
|
2016
|
26 |
10 |
p. 712-716
5 p.
|
artikel
|
| 10 |
Mitochondrial dysfunction in myofibrillar myopathy
|
Vincent, Amy E.
|
|
2016
|
26 |
10 |
p. 691-701
11 p.
|
artikel
|
| 11 |
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions
|
Tincheva, Savina
|
|
2016
|
26 |
10 |
p. 675-680
6 p.
|
artikel
|
| 12 |
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M
|
Koo, Benjamin
|
|
2016
|
26 |
10 |
p. 688-690
3 p.
|
artikel
|
| 13 |
Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy
|
Mankodi, Ami
|
|
2016
|
26 |
10 |
p. 650-658
9 p.
|
artikel
|
| 14 |
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands
|
Richard, Isabelle
|
|
2016
|
26 |
10 |
p. 717-724
8 p.
|
artikel
|
| 15 |
Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients
|
Milley, Gyorgy Mate
|
|
2016
|
26 |
10 |
p. 706-711
6 p.
|
artikel
|
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