| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
AChR myasthenia gravis switching to MuSK or double antibody positive myasthenia gravis in two children and literature review
|
Lu, Yaru
|
|
|
30 |
7 |
p. 534-538
|
artikel
|
| 2 |
An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd
|
Li, Honghao
|
|
|
30 |
7 |
p. 562-565
|
artikel
|
| 3 |
Confounding clinical presentation and different disease progression in CMT4B1
|
Guimarães-Costa, Raquel
|
|
|
30 |
7 |
p. 576-582
|
artikel
|
| 4 |
Double seropositivity for AChR and MuSK autoantibodies in myasthenia gravis
|
Zhu, Mingqin
|
|
|
30 |
7 |
p. 533
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
30 |
7 |
p. IFC
|
artikel
|
| 6 |
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency
|
Barcia, Giulia
|
|
|
30 |
7 |
p. 593-598
|
artikel
|
| 7 |
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood
|
Pizzamiglio, Chiara
|
|
|
30 |
7 |
p. 566-571
|
artikel
|
| 8 |
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism
|
Keller, Natalie
|
|
|
30 |
7 |
p. 583-589
|
artikel
|
| 9 |
Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies
|
Raja Rayan, Dipa L
|
|
|
30 |
7 |
p. 539-545
|
artikel
|
| 10 |
MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report
|
Parada-Garza, Juan Didier
|
|
|
30 |
7 |
p. 590-592
|
artikel
|
| 11 |
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants
|
Ma, Maxwell T.
|
|
|
30 |
7 |
p. 572-575
|
artikel
|
| 12 |
Mutation spectrum and health status in skeletal muscle channelopathies in Japan
|
Sasaki, Ryogen
|
|
|
30 |
7 |
p. 546-553
|
artikel
|
| 13 |
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant
|
Avila-Smirnow, Daniela
|
|
|
30 |
7 |
p. 554-561
|
artikel
|
| 14 |
Oral bisphosphonate treatment in patients with Duchenne muscular dystrophy on long term glucocorticoid therapy
|
Tian, Cuixia
|
|
|
30 |
7 |
p. 599-610
|
artikel
|
| 15 |
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome
|
Al-Muhaizea, Mohammad A.
|
|
|
30 |
7 |
p. 611-615
|
artikel
|
| 16 |
1st Sitting Workshop for neuromuscular disorders Denmark, 30 September - 1 October 2019
|
de Groot, Imelda JM
|
|
|
30 |
7 |
p. 616-619
|
artikel
|
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