| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs
|
Edel, L
|
|
|
31 |
4 |
p. 300-309
|
artikel
|
| 2 |
Editorial Board
|
|
|
|
31 |
4 |
p. IFC
|
artikel
|
| 3 |
Functional analysis of a novel POLĪ³A mutation associated with a severe perinatal mitochondrial encephalomyopathy
|
Darin, Niklas
|
|
|
31 |
4 |
p. 348-358
|
artikel
|
| 4 |
Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3
|
Djordjevic, Stefan A.
|
|
|
31 |
4 |
p. 291-299
|
artikel
|
| 5 |
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
|
Schirwani, Schaida
|
|
|
31 |
4 |
p. 359-366
|
artikel
|
| 6 |
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment
|
Battini, R
|
|
|
31 |
4 |
p. 319-327
|
artikel
|
| 7 |
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
|
Moore, Ursula
|
|
|
31 |
4 |
p. 265-280
|
artikel
|
| 8 |
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients
|
Brugnoni, Raffaella
|
|
|
31 |
4 |
p. 336-347
|
artikel
|
| 9 |
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen
|
MacCannell, Drew
|
|
|
31 |
4 |
p. 310-318
|
artikel
|
| 10 |
Prevalence of atrial fibrillation in myotonic dystrophy type 1: A systematic review
|
Russo, Vincenzo
|
|
|
31 |
4 |
p. 281-290
|
artikel
|
| 11 |
Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy
|
O'Dowd, Dawn N.
|
|
|
31 |
4 |
p. 328-335
|
artikel
|
| 12 |
The risks of using non-specific outcome measures to capture activities of daily living in myotonic dystrophy type 2
|
Hamadeh, Tatiana
|
|
|
31 |
4 |
p. 367-368
|
artikel
|
| 13 |
The risks of using non-specific outcome measures to capture activities of daily living in myotonic dystrophy type 2 - Response
|
On behalf of all authors:,
|
|
|
31 |
4 |
p. 369
|
artikel
|
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