| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1
|
Hernandez-Lain, Aurelio
|
|
|
29 |
3 |
p. 247-250
|
article
|
| 2 |
Editorial Board
|
|
|
|
29 |
3 |
p. IFC
|
article
|
| 3 |
Mitochondrial DNA depletion in sporadic inclusion body myositis
|
Bhatt, Padmanabh S.
|
|
|
29 |
3 |
p. 242-246
|
article
|
| 4 |
6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR)
|
Vita, Gian Luca
|
|
|
29 |
3 |
p. 213-220
|
article
|
| 5 |
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy
|
Vorster, Nitamarie
|
|
|
29 |
3 |
p. 221-230
|
article
|
| 6 |
Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy
|
Amiñoso, Cinthia
|
|
|
29 |
3 |
p. 187-191
|
article
|
| 7 |
Respiratory dysfunction in myotonic dystrophy type 1: A systematic review
|
Hawkins, A.M.
|
|
|
29 |
3 |
p. 198-212
|
article
|
| 8 |
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
|
Pena, Loren D.M.
|
|
|
29 |
3 |
p. 167-186
|
article
|
| 9 |
Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease
|
Guevara-Campos, José
|
|
|
29 |
3 |
p. 192-197
|
article
|
| 10 |
236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1–3 June 2018
|
Wong, Sze Choong
|
|
|
29 |
3 |
p. 251-259
|
article
|
| 11 |
Various effects of AAV9-mediated βARKct gene therapy on the heart in dystrophin-deficient (mdx) mice and δ-sarcoglycan-deficient (Sgcd-/-) mice
|
Bauer, Ralf
|
|
|
29 |
3 |
p. 231-241
|
article
|
Journal description