nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Bone health measures in glucocorticoid-treated ambulatory boys with Duchenne muscular dystrophy
|
Tian, Cuixia |
|
2016 |
26 |
11 |
p. 760-767 8 p. |
artikel |
2 |
Book review
|
Krishnakumar, Deepa |
|
2016 |
26 |
11 |
p. 815- 1 p. |
artikel |
3 |
Developmental milestones in type I spinal muscular atrophy
|
De Sanctis, Roberto |
|
2016 |
26 |
11 |
p. 754-759 6 p. |
artikel |
4 |
Dysferlin mutations and mitochondrial dysfunction
|
Vincent, Amy E. |
|
2016 |
26 |
11 |
p. 782-788 7 p. |
artikel |
5 |
Editorial Board
|
|
|
2016 |
26 |
11 |
p. CO2- 1 p. |
artikel |
6 |
Focal myositis: A review
|
Devic, P. |
|
2016 |
26 |
11 |
p. 725-733 9 p. |
artikel |
7 |
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing
|
Das Bhowmik, Aneek |
|
2016 |
26 |
11 |
p. 809-814 6 p. |
artikel |
8 |
Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern
|
Polavarapu, Kiran |
|
2016 |
26 |
11 |
p. 768-774 7 p. |
artikel |
9 |
[No title]
|
Jungbluth, Heinz |
|
2016 |
26 |
11 |
p. 816- 1 p. |
artikel |
10 |
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions
|
de Fuenmayor-Fernández de la Hoz, Carlos Pablo |
|
2016 |
26 |
11 |
p. 749-753 5 p. |
artikel |
11 |
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
|
Natera-de Benito, D. |
|
2016 |
26 |
11 |
p. 789-795 7 p. |
artikel |
12 |
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
|
Ravenscroft, Gianina |
|
2016 |
26 |
11 |
p. 744-748 5 p. |
artikel |
13 |
Reduced neuronal density in the CA1 anterodorsal hippocampus of the mdx mouse
|
Miranda, Rubén |
|
2016 |
26 |
11 |
p. 775-781 7 p. |
artikel |
14 |
Sporadic inclusion body myositis misdiagnosed as idiopathic granulomatous myositis
|
Lavian, Monica |
|
2016 |
26 |
11 |
p. 741-743 3 p. |
artikel |
15 |
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease
|
Gallay, Laure |
|
2016 |
26 |
11 |
p. 801-804 4 p. |
artikel |
16 |
The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study
|
Ünver, Olcay |
|
2016 |
26 |
11 |
p. 796-800 5 p. |
artikel |
17 |
Thomsen disease with ptosis and abnormal MR findings
|
Mori, Yukiko |
|
2016 |
26 |
11 |
p. 805-808 4 p. |
artikel |
18 |
Treatment and outcomes in necrotising autoimmune myopathy: An Australian perspective
|
Ashton, Catherine |
|
2016 |
26 |
11 |
p. 734-740 7 p. |
artikel |