| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy
|
Messina, Sonia
|
|
|
29 |
12 |
p. 940-950
|
article
|
| 2 |
Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype
|
Scarpini, Gaia
|
|
|
29 |
12 |
p. 979
|
article
|
| 3 |
Book review
|
Krishnakumar, Dr. Deepa
|
|
|
29 |
12 |
p. 977
|
article
|
| 4 |
Book review
|
Wills, Adrian
|
|
|
29 |
12 |
p. 978
|
article
|
| 5 |
Early onset facioscapulohumeral muscular dystrophy – Long-term follow-up of a patient with total facial diplegia
|
Rudnik-Schöneborn, Sabine
|
|
|
29 |
12 |
p. 973-976
|
article
|
| 6 |
Editorial Board
|
|
|
|
29 |
12 |
p. IFC
|
article
|
| 7 |
Evaluation of gait in Duchenne Muscular Dystrophy: Relation of 3D gait analysis to clinical assessment
|
Romano, Alberto
|
|
|
29 |
12 |
p. 920-929
|
article
|
| 8 |
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency
|
Hedberg-Oldfors, Carola
|
|
|
29 |
12 |
p. 951-960
|
article
|
| 9 |
GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics
|
Gomez, Gaurav
|
|
|
29 |
12 |
p. 961-967
|
article
|
| 10 |
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants
|
Jones, Hannah F
|
|
|
29 |
12 |
p. 913-919
|
article
|
| 11 |
Late-onset Pompe disease associated with polyneuropathy
|
Lamartine S.Monteiro, M.
|
|
|
29 |
12 |
p. 968-972
|
article
|
| 12 |
Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy
|
Mori-Yoshimura, Madoka
|
|
|
29 |
12 |
p. 930-939
|
article
|
| 13 |
The 2020 version of the gene table of neuromuscular disorders (nuclear genome)
|
Benarroch, Louise
|
|
|
29 |
12 |
p. 980-1018
|
article
|
Journal description