| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy
|
Koczok, Katalin
|
|
2018
|
28 |
2 |
p. 129-136
|
artikel
|
| 2 |
Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions
|
Battini, R.
|
|
2018
|
28 |
2 |
p. 122-128
|
artikel
|
| 3 |
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
|
Mercuri, Eugenio
|
|
2018
|
28 |
2 |
p. 103-115
|
artikel
|
| 4 |
Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation
|
Souza, Paulo Victor Sgobbi
|
|
2018
|
28 |
2 |
p. 169-172
|
artikel
|
| 5 |
Editorial Board
|
|
|
2018
|
28 |
2 |
p. CO2
|
artikel
|
| 6 |
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing
|
Zhu, Wenhua
|
|
2018
|
28 |
2 |
p. 154-157
|
artikel
|
| 7 |
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies
|
Scarpelli, Mauro
|
|
2018
|
28 |
2 |
p. 137-143
|
artikel
|
| 8 |
Low-level dystrophin expression attenuating the dystrophinopathy phenotype
|
Waldrop, Megan A.
|
|
2018
|
28 |
2 |
p. 116-121
|
artikel
|
| 9 |
Mitochondrial dysfunction in myotonic dystrophy type 1
|
Gramegna, Laura Ludovica
|
|
2018
|
28 |
2 |
p. 144-149
|
artikel
|
| 10 |
MuSK myasthenia gravis and pregnancy
|
Santos, Ernestina
|
|
2018
|
28 |
2 |
p. 150-153
|
artikel
|
| 11 |
Non invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective
|
Fiorentino, Giuseppe
|
|
2018
|
28 |
2 |
p. 193
|
artikel
|
| 12 |
Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective
|
Boussaid, Ghilas
|
|
2018
|
28 |
2 |
p. 194
|
artikel
|
| 13 |
Obituary – Professor Jaap Bethlem (1924–2017)
|
Jennekens, Frans
|
|
2018
|
28 |
2 |
p. 195-196
|
artikel
|
| 14 |
Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
|
Pogoryelova, Oksana
|
|
2018
|
28 |
2 |
p. 158-168
|
artikel
|
| 15 |
Severe persistent injection site reactions after subcutaneous 2′-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy
|
Domingos, Joana
|
|
2018
|
28 |
2 |
p. 176-177
|
artikel
|
| 16 |
231st ENMC International Workshop:
|
Eftimov, Filip
|
|
2018
|
28 |
2 |
p. 178-184
|
artikel
|
| 17 |
227th ENMC International Workshop:
|
Willmann, Raffaella
|
|
2018
|
28 |
2 |
p. 185-192
|
artikel
|
| 18 |
Tubular aggregates in congenital myasthenic syndrome
|
Feresiadou, Amalia
|
|
2018
|
28 |
2 |
p. 174-175
|
artikel
|
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