| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study
|
Hashizume, Atsushi
|
|
2015
|
25 |
7 |
p. 554-562
9 p.
|
article
|
| 2 |
Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy
|
Healy, E.G.
|
|
2015
|
25 |
7 |
p. 589-592
4 p.
|
article
|
| 3 |
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy
|
Kraeva, N.
|
|
2015
|
25 |
7 |
p. 567-576
10 p.
|
article
|
| 4 |
Editorial Board
|
|
|
2015
|
25 |
7 |
p. CO2-
1 p.
|
article
|
| 5 |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
|
Savarese, Marco
|
|
2015
|
25 |
7 |
p. 533-541
9 p.
|
article
|
| 6 |
Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease
|
Gorman, Gráinne S.
|
|
2015
|
25 |
7 |
p. 563-566
4 p.
|
article
|
| 7 |
Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, October 16, 2013
|
Gagnon, Cynthia
|
|
2015
|
25 |
7 |
p. 603-616
14 p.
|
article
|
| 8 |
Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease
|
Crescimanno, G.
|
|
2015
|
25 |
7 |
p. 542-547
6 p.
|
article
|
| 9 |
SIL1-related Marinesco–Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder
|
Byrne, Susan
|
|
2015
|
25 |
7 |
p. 585-588
4 p.
|
article
|
| 10 |
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort
|
Gutiérrez-Rivas, E.
|
|
2015
|
25 |
7 |
p. 548-553
6 p.
|
article
|
| 11 |
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands
|
Finkel, Richard
|
|
2015
|
25 |
7 |
p. 593-602
10 p.
|
article
|
| 12 |
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation
|
Walter, Maggie C.
|
|
2015
|
25 |
7 |
p. 577-584
8 p.
|
article
|
Journal description