| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum
|
Cruz, Simao
|
|
2016
|
3 |
2 |
p. 267-274
|
artikel
|
| 2 |
Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus
|
Bouhy, Delphine
|
|
2016
|
3 |
2 |
p. 183-200
|
artikel
|
| 3 |
Enhancement of Satellite Cell Transplantation Efficiency by Leukemia Inhibitory Factor
|
Ito, N.
|
|
2016
|
3 |
2 |
p. 201-207
|
artikel
|
| 4 |
“Get the Balance Right”: Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders
|
Castets, Perrine
|
|
2016
|
3 |
2 |
p. 127-155
|
artikel
|
| 5 |
GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology
|
Papadimas, G.K.
|
|
2016
|
3 |
2 |
p. 283-288
|
artikel
|
| 6 |
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy
|
Rudolf, Gabrielle
|
|
2016
|
3 |
2 |
p. 275-281
|
artikel
|
| 7 |
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
|
Marey, Isabelle
|
|
2016
|
3 |
2 |
p. 227-245
|
artikel
|
| 8 |
N-terminal α Dystroglycan (αDG-N): A Potential Serum Biomarker for Duchenne Muscular Dystrophy
|
Crowe, Kelly E.
|
|
2016
|
3 |
2 |
p. 247-260
|
artikel
|
| 9 |
Patient Reported Falls and Balance Confidence in Individuals with Charcot-Marie-Tooth Disease
|
Eichinger, Katy
|
|
2016
|
3 |
2 |
p. 289-292
|
artikel
|
| 10 |
Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico
|
Ramos, Edwardo
|
|
2016
|
3 |
2 |
p. 261-266
|
artikel
|
| 11 |
Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders
|
Buchkremer, Stephan
|
|
2016
|
3 |
2 |
p. 169-181
|
artikel
|
| 12 |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases
|
Punetha, Jaya
|
|
2016
|
3 |
2 |
p. 209-225
|
artikel
|
| 13 |
Therapeutic Potential of Tricyclo-DNA antisense oligonucleotides
|
Goyenvalle, Aurelie
|
|
2016
|
3 |
2 |
p. 157-167
|
artikel
|
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