| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A brief history of the congenital myopathies – the myopathological perspective
|
Goebel, Hans H.
|
|
|
33 |
12 |
p. 990-995
|
artikel
|
| 2 |
A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro
|
Ghirigato, Elena
|
|
|
33 |
12 |
p. 972-977
|
artikel
|
| 3 |
Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study
|
Maulet, Théo
|
|
|
33 |
12 |
p. 923-935
|
artikel
|
| 4 |
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
|
Bermejo-Guerrero, Laura
|
|
|
33 |
12 |
p. 983-987
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
33 |
12 |
p. IFC
|
artikel
|
| 6 |
ENMC Themed Call 2023-2024 Announcement
|
|
|
|
33 |
12 |
p. I
|
artikel
|
| 7 |
Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy
|
Vincenten, S.C.C.
|
|
|
33 |
12 |
p. 936-944
|
artikel
|
| 8 |
Executive functions and daily functioning in myotonic dystrophy type 1 ecological assessment with virtual reality
|
Garmendia, Joana
|
|
|
33 |
12 |
p. 917-922
|
artikel
|
| 9 |
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals
|
Noda, Yuko
|
|
|
33 |
12 |
p. 951-963
|
artikel
|
| 10 |
In Memoriam: Dr Martin S Schwartz MD (Baltimore) FRCP (London) 1941–2023
|
Swash, Michael
|
|
|
33 |
12 |
p. 996-997
|
artikel
|
| 11 |
Muscular phenotype description of abnormal THOC2 splicing
|
Dubucs, Charlotte
|
|
|
33 |
12 |
p. 978-982
|
artikel
|
| 12 |
Orthognathic surgery in RYR1-related congenital myopathy: a patient report
|
van der Kooi, Anneke J.
|
|
|
33 |
12 |
p. 988-989
|
artikel
|
| 13 |
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study
|
Vicino, Alex
|
|
|
33 |
12 |
p. 911-916
|
artikel
|
| 14 |
The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes
|
Kools, Joost
|
|
|
33 |
12 |
p. 964-971
|
artikel
|
| 15 |
The personal financial burden associated with idiopathic inflammatory myopathies
|
Hua, Catherine
|
|
|
33 |
12 |
p. 945-950
|
artikel
|
| 16 |
WMS 2024 Congress Flyer
|
|
|
|
33 |
12 |
p. II
|
artikel
|
| 17 |
WMS 2024 Congress information
|
|
|
|
33 |
12 |
p. III
|
artikel
|
| 18 |
WMS General Information
|
|
|
|
33 |
12 |
p. IV
|
artikel
|
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