| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies
|
Schartner, Vanessa
|
|
2019
|
6 |
3 |
p. 289-305
|
artikel
|
| 2 |
A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy
|
Bardakjian, Tanya
|
|
2019
|
6 |
3 |
p. 385-387
|
artikel
|
| 3 |
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset
|
Gillespie, Meredith K.
|
|
|
6 |
3 |
p. 333-339
|
artikel
|
| 4 |
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks
|
Prasad, Madhavi
|
|
2019
|
6 |
3 |
p. 341-347
|
artikel
|
| 5 |
AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort
|
Al-Zaidy, Samiah A.
|
|
2019
|
6 |
3 |
p. 307-317
|
artikel
|
| 6 |
Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats
|
van der Plas, Ellen
|
|
2019
|
6 |
3 |
p. 321-332
|
artikel
|
| 7 |
Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy
|
van der Heul, A.M.B.
|
|
2019
|
6 |
3 |
p. 361-368
|
artikel
|
| 8 |
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family
|
Yiş, Uluç
|
|
2019
|
6 |
3 |
p. 377-384
|
artikel
|
| 9 |
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens
|
Widrick, Jeffrey J.
|
|
2019
|
6 |
3 |
p. 271-287
|
artikel
|
| 10 |
Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway
|
Annexstad, Ellen Johanne
|
|
2019
|
6 |
3 |
p. 349-359
|
artikel
|
| 11 |
Ocular Weakness in Myasthenia Gravis: Changes in Affected Muscles are a Distinct Clinical Feature
|
de Meel, Robert H.P.
|
|
2019
|
6 |
3 |
p. 369-376
|
artikel
|
| 12 |
“The Times They Are a-Changin’.” In reply to El-Zaidy et al.: AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort
|
Servais, Laurent
|
|
2019
|
6 |
3 |
p. 319-320
|
artikel
|
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