| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis
|
Kapoor, Mahima
|
|
2019
|
6 |
2 |
p. 189-199
|
artikel
|
| 2 |
Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy
|
Khan, Navid
|
|
2019
|
6 |
2 |
p. 213-225
|
artikel
|
| 3 |
Implementing a Global Expanded Access Program (EAP) for Infantile-Onset Spinal Muscular Atrophy (Type I): Understanding the Imperative, Impact and Challenges
|
Yong, Jonathan
|
|
2019
|
6 |
2 |
p. 227-231
|
artikel
|
| 4 |
Intra-Rater Reliability and Concurrent Validity of Quantified Muscle Testing for Maximal Knee Extensors Strength in Men with Myotonic Dystrophy Type 1
|
Roussel, Marie-Pier
|
|
2019
|
6 |
2 |
p. 233-240
|
artikel
|
| 5 |
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)
|
Lin, Hsin-Pin
|
|
2019
|
6 |
2 |
p. 259-261
|
artikel
|
| 6 |
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
|
Tao, Feifei
|
|
2019
|
6 |
2 |
p. 201-211
|
artikel
|
| 7 |
MuscleViz: Free Open-Source Software for Muscle Weakness Visualization
|
Wittenbach, Jason D.
|
|
2019
|
6 |
2 |
p. 263-266
|
artikel
|
| 8 |
Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation
|
Kanagawa, Motoi
|
|
2019
|
6 |
2 |
p. 175-187
|
artikel
|
| 9 |
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
|
Westra, Dineke
|
|
2019
|
6 |
2 |
p. 241-258
|
artikel
|
| 10 |
Spinal Stenosis in Familial Transthyretin Amyloidosis
|
Carr, A.S.
|
|
2019
|
6 |
2 |
p. 267-270
|
artikel
|
Tijdschrift beschrijving