nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity
|
Naume, Marie Mostue |
|
|
34 |
C |
p. 9-18 |
artikel |
2 |
Adolescent-onset multisystem proteinopathy due to a novel VCP variant
|
Soontrapa, Pannathat |
|
|
34 |
C |
p. 89-94 |
artikel |
3 |
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
|
Lehtokari, Vilma-Lotta |
|
|
34 |
C |
p. 32-40 |
artikel |
4 |
Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study
|
Bouman, Karlijn |
|
|
34 |
C |
p. 105-113 |
artikel |
5 |
Commentary from the Editor
|
Oldfors, Anders |
|
|
34 |
C |
p. 123-125 |
artikel |
6 |
Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio
|
Waldrop, Megan A |
|
|
34 |
C |
p. 41-48 |
artikel |
7 |
Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium
|
Dangouloff, Tamara |
|
|
34 |
C |
p. 61-67 |
artikel |
8 |
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
|
Martinez-Marin, Rafael Jenaro |
|
|
34 |
C |
p. 1-8 |
artikel |
9 |
Editorial Board
|
|
|
|
34 |
C |
p. IFC |
artikel |
10 |
ENMC Themed Call 2023-2024 Announcement
|
|
|
|
34 |
C |
p. I |
artikel |
11 |
Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey
|
Slipsager, Anna |
|
|
34 |
C |
p. 19-26 |
artikel |
12 |
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study
|
Coratti, Giorgia |
|
|
34 |
C |
p. 75-82 |
artikel |
13 |
HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
|
Carroll, Liam S |
|
|
34 |
C |
p. 27-31 |
artikel |
14 |
Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases
|
Bolano-Diaz, Carla |
|
|
34 |
C |
p. 54-60 |
artikel |
15 |
Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis
|
Zemorshidi, Fariba |
|
|
34 |
C |
p. 83-88 |
artikel |
16 |
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9
|
Quinlivan, Ros |
|
|
34 |
C |
p. 49-53 |
artikel |
17 |
Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy
|
Halseth, Madeline |
|
|
34 |
C |
p. 68-74 |
artikel |
18 |
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands
|
Abiusi, Emanuela |
|
|
34 |
C |
p. 114-122 |
artikel |
19 |
The 2024 version of the gene table of neuromuscular disorders (nuclear genome)
|
Benarroch, Louise |
|
|
34 |
C |
p. 126-170 |
artikel |
20 |
Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study
|
Trimmer, Rachel E. |
|
|
34 |
C |
p. 95-104 |
artikel |
21 |
WMS 2024 Congress Flyer
|
|
|
|
34 |
C |
p. II |
artikel |
22 |
WMS 2024 Congress information
|
|
|
|
34 |
C |
p. III |
artikel |
23 |
WMS General Information
|
|
|
|
34 |
C |
p. IV |
artikel |