| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs
|
Shelton, G. Diane
|
|
2019
|
6 |
4 |
p. 485-501
|
artikel
|
| 2 |
A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies
|
Waldrop, Megan
|
|
2019
|
6 |
4 |
p. 467-473
|
artikel
|
| 3 |
Caregiver Burden and Related Factors Among Caregivers of Patients with Myotonic Dystrophy Type 1
|
Kurauchi, Go
|
|
2019
|
6 |
4 |
p. 527-536
|
artikel
|
| 4 |
Defects in Axonal Transport in Inherited Neuropathies
|
Beijer, Danique
|
|
2019
|
6 |
4 |
p. 401-419
|
artikel
|
| 5 |
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation
|
Hu, Ying
|
|
2019
|
6 |
4 |
p. 475-483
|
artikel
|
| 6 |
Low Appendicular Lean Mass Index and Associations with Metabolic and Demographic Parameters in Wheelchair Athletes with Spinal Cord Injury
|
Fernndez, Shirley Steffany Muñoz
|
|
2019
|
6 |
4 |
p. 517-525
|
artikel
|
| 7 |
One Year of Newborn Screening for SMA – Results of a German Pilot Project
|
Vill, Katharina
|
|
2019
|
6 |
4 |
p. 503-515
|
artikel
|
| 8 |
Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study
|
Walter, Maggie C.
|
|
2019
|
6 |
4 |
p. 453-465
|
artikel
|
| 9 |
The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies
|
Lamacie, Mariana M.
|
|
2019
|
6 |
4 |
p. 389-399
|
artikel
|
| 10 |
The Dog Model in the Spotlight: Legacy of a Trustful Cooperation
|
Barthélémy, Inès
|
|
2019
|
6 |
4 |
p. 421-451
|
artikel
|
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