| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease
|
Wesolowska, Maria
|
|
2015
|
2 |
4 |
p. 409-419
|
artikel
|
| 2 |
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy
|
Kiiski, K.
|
|
2015
|
2 |
4 |
p. 433-438
|
artikel
|
| 3 |
An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy
|
Vest, Katherine E.
|
|
2015
|
2 |
4 |
p. 439-446
|
artikel
|
| 4 |
Author Index Volume 2 (2015)
|
|
|
2015
|
2 |
4 |
p. 471-476
|
artikel
|
| 5 |
Comparison of Experimental Protocols of Physical Exercise for mdx Mice and Duchenne Muscular Dystrophy Patients
|
Hyzewicz, Janek
|
|
2015
|
2 |
4 |
p. 325-342
|
artikel
|
| 6 |
Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview
|
van den Engel-Hoek, Lenie
|
|
2015
|
2 |
4 |
p. 357-369
|
artikel
|
| 7 |
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein
|
Cacheux, Marine
|
|
2015
|
2 |
4 |
p. 421-432
|
artikel
|
| 8 |
Genome Editing Gene Therapy for Duchenne Muscular Dystrophy
|
Hotta, Akitsu
|
|
2015
|
2 |
4 |
p. 343-355
|
artikel
|
| 9 |
Mammalian Mss51 is a Skeletal Muscle-Specific Gene Modulating Cellular Metabolism
|
Moyer, Adam L.
|
|
2015
|
2 |
4 |
p. 371-385
|
artikel
|
| 10 |
MicroRNA and mRNA Expression Changes in Steroid Naïve and Steroid Treated DMD Patients
|
Liu, Da Zhi
|
|
2015
|
2 |
4 |
p. 387-396
|
artikel
|
| 11 |
Night Activity Reduction is a Signature Physiological Biomarker for Duchenne Muscular Dystrophy Dogs
|
Hakim, Chady H.
|
|
2015
|
2 |
4 |
p. 397-407
|
artikel
|
| 12 |
Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children
|
Catteruccia, Michela
|
|
2015
|
2 |
4 |
p. 453-462
|
artikel
|
| 13 |
Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative?
|
Montes, Jacqueline
|
|
2015
|
2 |
4 |
p. 463-470
|
artikel
|
| 14 |
The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study
|
Johnson, Nicholas E.
|
|
2015
|
2 |
4 |
p. 447-452
|
artikel
|
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