| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties
|
Kadoya, Masato
|
|
2017
|
27 |
5 |
p. 477-480
|
artikel
|
| 2 |
Association of early onset myasthenia gravis in Newfoundland dogs with the canine major histocompatibility complex class I
|
Wolf, Zena
|
|
2017
|
27 |
5 |
p. 409-416
|
artikel
|
| 3 |
Concentric muscle involvement in POLG-related distal myopathy
|
Tasca, Giorgio
|
|
2017
|
27 |
5 |
p. 500-501
|
artikel
|
| 4 |
Corrigendum to “Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy” [Neuromuscular Disorders 26/9 (2016) 576–583]
|
Mercuri, Eugenio
|
|
2017
|
27 |
5 |
p. e1
|
artikel
|
| 5 |
Corrigendum to “Challenges in pediatric chronic inflammatory demyelinating polyneuropathy” [Neuromuscular Disorders 26/12 (2016) 817–824]
|
Haliloğlu, Göknur
|
|
2017
|
27 |
5 |
p. e3
|
artikel
|
| 6 |
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
|
D'Amico, Adele
|
|
2017
|
27 |
5 |
p. 447-451
|
artikel
|
| 7 |
Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients
|
Rouault, Françoise
|
|
2017
|
27 |
5 |
p. 428-438
|
artikel
|
| 8 |
Distal myopathy with ADSSL1 mutations in Korean patients
|
Park, Hyung Jun
|
|
2017
|
27 |
5 |
p. 465-472
|
artikel
|
| 9 |
Editorial Board
|
|
|
2017
|
27 |
5 |
p. CO2
|
artikel
|
| 10 |
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR
|
Stabley, Deborah L.
|
|
2017
|
27 |
5 |
p. 439-446
|
artikel
|
| 11 |
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement
|
Missaglia, Sara
|
|
2017
|
27 |
5 |
p. 481-486
|
artikel
|
| 12 |
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency
|
Schrank, Bertold
|
|
2017
|
27 |
5 |
p. 473-476
|
artikel
|
| 13 |
Matching pairs difficulty in children with spinal muscular atrophy type I
|
Polido, Graziela Jorge
|
|
2017
|
27 |
5 |
p. 419-427
|
artikel
|
| 14 |
Non-uniform muscle fat replacement along the proximodistal axis in Duchenne muscular dystrophy
|
Hooijmans, M.T.
|
|
2017
|
27 |
5 |
p. 458-464
|
artikel
|
| 15 |
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency
|
Levano, Soledad
|
|
2017
|
27 |
5 |
p. 492-499
|
artikel
|
| 16 |
Seronegative myasthenia gravis associated with malignant thymoma
|
Richards, Jason
|
|
2017
|
27 |
5 |
p. 417-418
|
artikel
|
| 17 |
The 100-meter timed test: Normative data in healthy males and comparative pilot outcome data for use in Duchenne muscular dystrophy clinical trials
|
Alfano, Lindsay N.
|
|
2017
|
27 |
5 |
p. 452-457
|
artikel
|
| 18 |
Update in NMD Announcement
|
|
|
2017
|
27 |
5 |
p. IV
|
artikel
|
| 19 |
Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature
|
Zambon, Alberto Andrea
|
|
2017
|
27 |
5 |
p. 487-491
|
artikel
|
Tijdschrift beschrijving